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
ZNF236	7776	broad.mit.edu	37	18	74625730	74625730	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74625730G>A	ENST00000253159.8	+	18	3129	c.2931G>A	c.(2929-2931)aaG>aaA	p.K977K	ZNF236_ENST00000320610.9_Silent_p.K979K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	977					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGCTTTAAGAAGTCCAGCC	0.488000													26	58					0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23052734	23052734	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23052734G>A	ENST00000437912.2	-	4	1411	c.114C>T	c.(112-114)ctC>ctT	p.L38L	NIPA1_ENST00000337435.4_Silent_p.L113L|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000561183.1_Silent_p.L38L			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	113					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTTCCTTCAGGAGATAGGAAG	0.418000													37	60					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20832975	20832975	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:20832975T>A	ENST00000359062.3	+	16	3236	c.3196T>A	c.(3196-3198)Ttc>Atc	p.F1066I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1066	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)	AAAGAAGACTTTCAAAAGGAG	0.358000													14	22					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100389828	100389828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:100389828G>T	ENST00000341170.4	-	2	399	c.17C>A	c.(16-18)tCa>tAa	p.S6*	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	6										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTGGTCTGGTGAAGTGGAAGA	0.388000													70	41					3.71514e-35	3.81218e-35	1	1	0
IGHV3-30	28439	broad.mit.edu	37	14	106791212	106791212	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106791212G>A	ENST00000390613.2	-	0	223																											CATAGCTACTGAAGGTGAATC	0.567000													5	93					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061079	111061079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111061079G>A	ENST00000369771.2	-	1	718	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	111						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTCCCAGGAGAGTCTCTGGG	0.473000													35	48					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68896789	68896789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:68896789G>A	ENST00000262340.5	-	13	1462	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	470			P -> L (in LCA2).		visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACAAAGATGGGTTCTGATGG	0.388000													30	44					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14309	14309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrM:14309C>T	ENST00000361681.2	-	1	364	c.365G>A	c.(364-366)gGa>gAa	p.G122E						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TTATTCAGCTTCCTACACTAT	0.463000													7	0					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134250268	134250268	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:134250268G>A	ENST00000423958.1	+	1	36	c.36G>A	c.(34-36)aaG>aaA	p.K12K	AKR1B15_ENST00000457545.2_Intron			C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	0							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CAAAAGCCAAGATGCCCATTG	0.488000													42	49					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47860907	47860907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47860907G>A	ENST00000359568.5	+	43	9640	c.9533G>A	c.(9532-9534)gGg>gAg	p.G3178E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3178	Interaction with NEK2.				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)					GCCCATTTGGGGGTATTTCCT	0.428000													16	63					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866170	208866170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:208866170G>A	ENST00000457206.1	-	2	621	c.194C>T	c.(193-195)tCc>tTc	p.S65F	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S65F|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S65F			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	65					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGCCCAGGGAGGTGACATT	0.498000													36	57					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	33					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366772	23366772	+	Silent	SNP	C	C	T	rs141889317		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23366772C>T	ENST00000343070.2	+	4	914	c.738C>T	c.(736-738)atC>atT	p.I246I	SCNN1B_ENST00000307331.5_Silent_p.I291I|SCNN1B_ENST00000568085.1_Silent_p.I246I|SCNN1B_ENST00000568923.1_Silent_p.I219I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	246					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCAGATGATCCTGGCCTGCC	0.607000													43	59					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684589	108684589	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:108684589C>T	ENST00000218006.2	-	7	1983	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	564	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.A564A(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTCATAAATCGCTATGTTGG	0.403000													70	23					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118535096	118535096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:118535096G>A	ENST00000336338.5	-	36	5419	c.5354C>T	c.(5353-5355)tCc>tTc	p.S1785F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1785						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TACCTTAAGGGAAACCTGCAG	0.443000													35	51					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37541212	37541212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:37541212G>A	ENST00000432825.2	-	2	602	c.554C>T	c.(553-555)aCg>aTg	p.T185M	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCAGGCTGGCGTGAAGACGAG	0.552000													25	115					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668335	59668335	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:59668335C>T	ENST00000521764.1	-	1	228	c.207G>A	c.(205-207)caG>caA	p.Q69Q		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	69					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CACTCCGACTCTGTTTTGCTT	0.473000													90	249					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137813993	137813993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:137813993C>T	ENST00000409968.1	+	3	321	c.143C>T	c.(142-144)cCg>cTg	p.P48L	THSD7B_ENST00000413152.2_Missense_Mutation_p.P17L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P48L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTAGGTCCGTGGGGAAGG	0.468000													22	53					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366589	40366589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:40366589C>T	ENST00000406785.1	-	7	2578	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D828N|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D797N|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D797N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D797N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D833N|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D828N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D833N|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D797N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D825N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCACAGAATCTTTCAGGCCA	0.483000													20	33					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511009	4511009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4511009G>A	ENST00000301286.3	-	3	2920	c.2921C>T	c.(2920-2922)gCt>gTt	p.A974V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	974	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATAAGCACAGCCTTGGAGGC	0.612000													27	28					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113835141	113835141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113835141C>T	ENST00000257549.4	-	6	604	c.482G>A	c.(481-483)gGg>gAg	p.G161E		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	161					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCGATGGCCCCCGGCTTTTC	0.677000													40	89					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81176591	81176591	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81176591C>T	ENST00000394685.3	+	7	1112	c.693C>T	c.(691-693)atC>atT	p.I231I	KIAA1199_ENST00000220244.3_Silent_p.I231I|KIAA1199_ENST00000356249.5_Silent_p.I231I			Q8WUJ3	K1199_HUMAN	KIAA1199	231										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						ATGGCAGGATCCTTTCTGTTG	0.478000													46	74					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706956	96706956	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:96706956G>A	ENST00000542454.2	+	3	3298	c.210G>A	c.(208-210)ggG>ggA	p.G70G	BDKRB2_ENST00000554311.1_Silent_p.G97G|BDKRB2_ENST00000539359.1_Silent_p.G70G|BDKRB2_ENST00000306005.3_Silent_p.G97G|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	97					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCTACCTGGGGAACCTGGCCG	0.607000													86	92					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20553675	20553675	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:20553675G>A	ENST00000202677.6	-	21	2887	c.2745C>T	c.(2743-2745)atC>atT	p.I915I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	915					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCCCCCCGGCGATTATACTAC	0.478000													17	23					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248481	50248481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50248481G>A	ENST00000246801.3	-	7	1247	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	TSKS_ENST00000358830.3_Missense_Mutation_p.R189W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	389							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATCCGCCCGACCTCGCAGC	0.682000													42	39					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75171635	75171635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:75171635C>T	ENST00000342232.4	-	3	1283	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	415					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGGTAGAAATCAGGTGACAGC	0.562000													58	56					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120924358	120924358	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:120924358C>T	ENST00000422003.2	+	4	560	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TBCEL_ENST00000529397.1_Silent_p.S124S	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	124						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTGCTGGGTCCTTCTCTGGGG	0.453000													23	48					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707903	26707903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26707903G>A	ENST00000529632.2	+	8	2047	c.1851G>A	c.(1849-1851)tgG>tgA	p.W617*	SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.W390*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.W617*|SEZ6L_ENST00000403121.1_Nonsense_Mutation_p.W390*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.W617*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.W617*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.W617*	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	617	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCCATACTGGAATGACACAG	0.592000													50	137					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133002	48133002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48133002C>T	ENST00000405493.2	-	24	2468	c.2259G>A	c.(2257-2259)tgG>tgA	p.W753*	RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.W753*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.W795*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.W795*|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.W686*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.W753*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	753					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCCGGTGGTTCCATGAGGGAT	0.602000													23	27					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55798066C>T	ENST00000313555.1	+	1	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTTCAAATTCCCATGTATTA	0.338000													11	24					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085304	167085304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167085304G>A	ENST00000375387.4	-	22	4446	c.4106C>T	c.(4105-4107)tCc>tTc	p.S1369F	SCN9A_ENST00000409672.1_Missense_Mutation_p.S1357F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1368F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1369F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1368						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)	AAAACATTCGGAACGATTTGG	0.403000													95	165					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830357	147830357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:147830357C>T	ENST00000513335.1	-	6	498	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	TTC29_ENST00000325106.4_Missense_Mutation_p.R74Q|TTC29_ENST00000398886.4_Missense_Mutation_p.R100Q			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	74							binding	p.R74Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATAACCATCTCGCAGCATGTC	0.493000													4	23					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306834	126306834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126306834G>A	ENST00000525144.2	-	12	1673	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.T475I|KIRREL3_ENST00000525704.2_Missense_Mutation_p.T475I	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	475	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCCCTCCTCGGTGCTGATGGT	0.632000													7	14					0	0	1	0	0
SFTA2	389376	broad.mit.edu	37	6	30899508	30899508	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30899508G>A	ENST00000359086.3	-	2	204	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	42						extracellular region				lung(2)	2						CCAGGAAGCTGGACTCATAGG	0.502000													37	68					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483316	41483316	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:41483316G>A	ENST00000359345.1	-	2	3524	c.948C>T	c.(946-948)gtC>gtT	p.V316V	SLFNL1_ENST00000439569.2_Silent_p.V316V|SLFNL1_ENST00000397197.2_Silent_p.V316V|SLFNL1_ENST00000372611.1_Silent_p.V257V|SLFNL1_ENST00000302946.8_Silent_p.V316V|SLFNL1_ENST00000372613.2_Silent_p.V316V	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	316							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCTTGAGGGGGACGCTGGTCT	0.597000													33	105					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50691550	50691550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50691550G>A	ENST00000355832.5	-	9	1912	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	612	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCAACATCTCGAATTAGTTTC	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)					24	44					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676889	137676889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137676889G>A	ENST00000371817.3	+	30	2953	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	847	Triple-helical 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)		AGGCCCAAAGGGTCGCGGAGG	0.627000													23	25					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473800	52473800	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:52473800G>A	ENST00000219746.9	-	7	1352	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	TOX3_ENST00000407228.3_Silent_p.L351L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	356					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			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGTTGAGAAGGAGAGAGGATG	0.527000													26	90					0	0	1	0	0
COA5	493753	broad.mit.edu	37	2	99220616	99220616	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:99220616G>A	ENST00000328709.3	-	2	224	c.138C>T	c.(136-138)taC>taT	p.Y46Y	COA5_ENST00000409997.1_Silent_p.Y46Y|COA5_ENST00000483527.1_5'UTR	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	46																	AAGAGTTGCAGTATCCTTCCT	0.338000													28	71					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921212	39921212	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39921212G>A	ENST00000393931.3	-	6	1135	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	JUP_ENST00000393930.1_Silent_p.S339S|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.S339S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	339					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGGACACACGGATAGCACCT	0.592000													67	135					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88401667	88401667	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:88401667C>T	ENST00000418378.1	-	10	2245	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	SPARCL1_ENST00000282470.6_Silent_p.K558K|SPARCL1_ENST00000503414.1_Silent_p.K433K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	558					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTAAATTTTCTTGACCTGGG	0.403000													20	29					0	0	1	0	0
TMEM218	219854	broad.mit.edu	37	11	124967576	124967576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:124967576G>A	ENST00000455225.1	-	4	925	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	TMEM218_ENST00000529583.1_Missense_Mutation_p.L92F|TMEM218_ENST00000532407.1_Missense_Mutation_p.L92F|TMEM218_ENST00000279968.4_Missense_Mutation_p.L92F|TMEM218_ENST00000527766.1_Missense_Mutation_p.L92F|TMEM218_ENST00000532156.1_3'UTR|TMEM218_ENST00000527271.1_Missense_Mutation_p.L92F|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_3'UTR|TMEM218_ENST00000531909.1_Missense_Mutation_p.L92F|TMEM218_ENST00000526175.1_Missense_Mutation_p.L92F|TMEM218_ENST00000528724.1_Missense_Mutation_p.L118F			A2RU14	TM218_HUMAN	transmembrane protein 218	92						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGCCTCCAAGGAAGATGGCA	0.433000													9	17					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573399	19573399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:19573399G>A	ENST00000341998.2	-	6	1358	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	SLC24A2_ENST00000286344.3_Missense_Mutation_p.P416S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	433					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTTGTACAGGTTCTGAAGCA	0.418000													17	98					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15540484	15540484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:15540484G>A	ENST00000357607.2	+	7	714	c.526G>A	c.(526-528)Gca>Aca	p.A176T	BMX_ENST00000342014.6_Missense_Mutation_p.A176T|BMX_ENST00000348343.6_Missense_Mutation_p.A176T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	176					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GATACCTCGGGCAGTTCCTGT	0.438000													102	54					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76359011	76359011	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76359011C>T	ENST00000312916.7	+	14	2461	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	693					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CTGAAAACTTCCCAGAAACTA	0.413000													10	56					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409767	69409767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69409767C>T	ENST00000303714.4	+	16	1650	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	443					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCTTCTTCCCCCCGGAAGTGG	0.428000									Familial Infantile Hemangioma				30	71					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36116662	36116662	+	Missense_Mutation	SNP	G	G	A	rs139593449		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36116662G>A	ENST00000249044.2	+	2	103	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	35					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGTAATCTACGGAGGTGAGGT	0.507000													8	35					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797981	55797981	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55797981G>A	ENST00000313555.1	+	1	87	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CACTGTTCTTGGTATTCCTTC	0.328000													15	35					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28763257	28763257	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28763257C>T	ENST00000422425.2	+	12	800	c.756C>T	c.(754-756)tgC>tgT	p.C252C	PLB1_ENST00000327757.5_Silent_p.C241C	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	241	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGTAATTGCTCAGAGGAGA	0.622000													24	30					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108835	46108835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46108835G>A	ENST00000321037.4	+	3	1103	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	291						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCCCTCATATGAATGTTTATC	0.328000													16	29					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262447	167262447	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167262447G>A	ENST00000409855.1	-	25	4818	c.4692C>T	c.(4690-4692)ctC>ctT	p.L1564L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1564					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGCCATGGGGAGGTCCAAAG	0.443000													49	103					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493622	128493622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128493622C>T	ENST00000325888.8	+	38	6569	c.6308C>T	c.(6307-6309)aCc>aTc	p.T2103I	FLNC_ENST00000346177.6_Missense_Mutation_p.T2070I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2103					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACTGCCCCACCGAGCCCGGC	0.582000													22	86					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273406	139273406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139273406G>A	ENST00000298532.2	-	21	3241	c.2873C>T	c.(2872-2874)cCc>cTc	p.P958L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	958	Pro-rich.				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)		GGCTGCCGCGGGGGCCCCAGG	0.662000													9	8					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959331	45959331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45959331G>A	ENST00000400375.1	-	1	747	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	235	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGGCGGCAGAGGAGGGACACG	0.687000													32	131					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625348	73625348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:73625348C>T	ENST00000317905.5	-	16	2314	c.2155G>A	c.(2155-2157)Ggc>Agc	p.G719S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.G692S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	719					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAGCGCTGCCTCCAGGGACC	0.682000								Other identified genes with known or suspected DNA repair function					10	26					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111951182	111951182	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111951182A>G	ENST00000377617.3	-	11	2178	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R	ATXN2_ENST00000550104.1_Missense_Mutation_p.W673R|ATXN2_ENST00000542287.2_Missense_Mutation_p.W408R|ATXN2_ENST00000535949.1_Missense_Mutation_p.W384R|ATXN2_ENST00000389153.4_Missense_Mutation_p.W408R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	673	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATGACCACGTTCCCCCC	0.502000													30	78					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320150	79320150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79320150G>A	ENST00000428286.1	-	8	7163	c.5963C>T	c.(5962-5964)gCc>gTc	p.A1988V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2347V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2347					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCCCACGAGGCTTCAGATGA	0.463000													95	51					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34089037	34089037	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:34089037C>T	ENST00000373381.4	-	36	5831	c.5655G>A	c.(5653-5655)caG>caA	p.Q1885Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.Q758Q|CSMD2_ENST00000373377.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1845	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTCCCAGTTCTGCTCTGTCA	0.502000													23	63					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81052115	81052115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:81052115C>T	ENST00000571814.1	+	3	1426	c.485C>T	c.(484-486)cCc>cTc	p.P162L	METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.P244L|METRNL_ENST00000570778.1_Missense_Mutation_p.P162L			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	244						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GAGCCGGTGCCCGAGGGTGAC	0.652000													45	54					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108818259C>T	ENST00000232603.5	-	6	451	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_ENST00000483760.1_Silent_p.T123T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343000													14	39					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55849824	55849824	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55849824C>T	ENST00000373965.2	-	17	2333		c.e17-1		PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395445.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATCAGTTGCCTTCAGAGAGA	0.348000										HNSCC(58;0.16)			10	49					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065438	145065438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145065438C>T	ENST00000313269.5	+	2	325	c.47C>T	c.(46-48)cCc>cTc	p.P16L	GRINA_ENST00000395068.4_Missense_Mutation_p.P16L	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	16	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACTATCCTCCCCCCAACCCT	0.627000													32	46					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210857019C>T	ENST00000367007.4	-	11	2662	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S	KCNH1_ENST00000271751.4_Silent_p.S858S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000													38	98					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102800	168102800	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168102800T>C	ENST00000409195.1	+	9	4987	c.4898T>C	c.(4897-4899)gTt>gCt	p.V1633A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1633A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1411A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1458					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						AAGGGAAATGTTAATTTGACT	0.328000													18	18					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948085	5948085	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5948085C>T	ENST00000378896.3	+	9	1256	c.879C>T	c.(877-879)atC>atT	p.I293I	MCM8_ENST00000265187.4_Silent_p.I293I|MCM8_ENST00000378883.1_Silent_p.I293I|MCM8_ENST00000378886.2_Silent_p.I293I	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	293					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTTTAGAATCCAGGAATTGA	0.388000													31	39					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103323718	103323718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:103323718G>A	ENST00000520539.1	-	20	3031	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	UBR5_ENST00000220959.4_Missense_Mutation_p.P809S|UBR5_ENST00000521922.1_Missense_Mutation_p.P803S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	809					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)			AGAATAATGGGAGATTCCTAT	0.358000													24	61					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383374	152383374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152383374C>T	ENST00000271835.3	-	3	246	c.184G>A	c.(184-186)Gat>Aat	p.D62N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	62	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCTTCATCCAGCAGACGC	0.542000													35	36					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426716	212426716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:212426716G>A	ENST00000342788.4	-	20	2709	c.2399C>T	c.(2398-2400)cCc>cTc	p.P800L	ERBB4_ENST00000436443.1_Missense_Mutation_p.P800L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P790L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	800	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGCCATGGGGCATAAGTTG	0.507000										TSP Lung(8;0.080)			46	94					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74922121	74922121	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:74922121G>A	ENST00000262144.6	-	22	2422	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	764										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGGCCCAAAGGGGTTTGGTA	0.468000													13	38					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820648	55820648	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820648T>C	ENST00000328314.3	+	1	611	c.611T>C	c.(610-612)cTt>cCt	p.L204P		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGTTTACTCTTATATCCACT	0.383000													9	19					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656819	7656819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7656819C>T	ENST00000299492.4	+	14	1619	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P299S|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P253S|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P268S	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	411					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTGTTAGAACCCAAGGTACA	0.398000													20	42					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144354740	144354740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144354740C>T	ENST00000262995.4	+	3	891	c.464C>T	c.(463-465)tCt>tTt	p.S155F	GAB1_ENST00000262994.4_Missense_Mutation_p.S155F|GAB1_ENST00000505913.1_Missense_Mutation_p.S52F	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	155					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483000													39	61					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809164	57809164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57809164G>A	ENST00000281282.5	+	9	2668	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	864						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAAGGCGAAGGAAACGCTGAA	0.547000													15	27					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463260	62463260	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:62463260G>T	ENST00000430451.2	+	1	720	c.523_splice	c.e1+1	p.V175_splice	SYT16_ENST00000446982.2_Splice_Site_p.V175_splice	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	175				V -> I (in Ref. 1; BAC76810).						central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAAAAAGCAAGGTAAGCTAGC	0.383000													50	38					2.74695e-27	2.814e-27	1	1	0
FNIP1	96459	broad.mit.edu	37	5	131132539	131132539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:131132539G>A	ENST00000514667.1	-	1	137	c.76C>T	c.(76-78)Cca>Tca	p.P26S	FNIP1_ENST00000510461.1_Missense_Mutation_p.P26S|FNIP1_ENST00000511848.1_Missense_Mutation_p.P26S|FNIP1_ENST00000307968.7_Missense_Mutation_p.P26S|FNIP1_ENST00000307954.8_Missense_Mutation_p.P26S					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCGCAATCTGGGTCCCGGGCG	0.721000													3	2					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643395	98643395	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:98643395A>G	ENST00000288985.7	+	2	629	c.324A>G	c.(322-324)cgA>cgG	p.R108R	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	108					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TCCCAAACCGAAAATTTCCAT	0.323000													25	16					0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968449	72968449	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72968449G>A	ENST00000311755.3	-	3	790	c.267C>T	c.(265-267)acC>acT	p.T89T						HIG1 hypoxia inducible domain family, member 2B																		TGGCTGCAATGGTGAAGCCCT	0.577000													12	15					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276579	108276579	+	Splice_Site	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:108276579C>G	ENST00000520734.1	-	7	891	c.605_splice	c.e7-1	p.R202_splice	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Splice_Site_p.R201_splice			Q15389	ANGP1_HUMAN	angiopoietin 1	402					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTAAATACAACCTGAAGTCAA	0.383000													25	37					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:17496474G>A	ENST00000302539.4	-	2	374	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_ENST00000389817.3_Silent_p.F83F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000													28	59					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138400	203138400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:203138400C>T	ENST00000255416.4	-	8	1268	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	404	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCTCGGACACTGCAGAACAA	0.632000													9	39					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98524852	98524852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:98524852C>T	ENST00000359863.4	+	23	3247	c.3038C>T	c.(3037-3039)cCa>cTa	p.P1013L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P1013L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P1012L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1013					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGACACTCCAGCCCGGAAG	0.537000													31	103					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896460	75896460	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75896460G>A	ENST00000355264.4	-	3	686	c.375C>T	c.(373-375)acC>acT	p.T125T	AP3M1_ENST00000372745.1_Silent_p.T125T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	125					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	p.T125T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TGTTAGATTCGGTAGCCAGTG	0.358000													9	28					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587294	55587294	+	Silent	SNP	C	C	T	rs145410438		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55587294C>T	ENST00000333976.4	+	1	209	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63F(1)		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)				TGTACTTTTTCCTCAGCCAAC	0.418000													60	117					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343452	38343452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:38343452C>T	ENST00000374618.3	+	5	578	c.400C>T	c.(400-402)Cct>Tct	p.P134S	ZNF33A_ENST00000458705.2_Missense_Mutation_p.P133S|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.P140S|ZNF33A_ENST00000307441.9_Missense_Mutation_p.P133S	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGTTCTTTTCCTTCCAGAAA	0.323000													20	87					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22429332	22429332	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:22429332C>T	ENST00000240123.7	+	19	2228	c.1845C>T	c.(1843-1845)acC>acT	p.T615T	SORBS3_ENST00000428103.1_Silent_p.T273T	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	615	Binds to SOS.|SH3 3.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TACACTGGACCCCGTGAGTAC	0.607000													24	71					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6909015	6909015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:6909015G>A	ENST00000419673.2	+	16	1827	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.G696E|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G532E|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G537E	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	519					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GAAATTGGAGGAAATATAGGT	0.259000													14	55					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28763259	28763259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28763259C>T	ENST00000422425.2	+	12	802	c.758C>T	c.(757-759)tCa>tTa	p.S253L	PLB1_ENST00000327757.5_Missense_Mutation_p.S242L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	242	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGTAATTGCTCAGAGGAGACC	0.622000													24	29					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026230	79026230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026230C>T	ENST00000446378.2	+	2	1673	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	548	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGCCCTTCCCACCACATAT	0.433000													52	44					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116310980	116310980	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:116310980A>G	ENST00000261448.5	-	1	422	c.183T>C	c.(181-183)tcT>tcC	p.S61S	CASQ2_ENST00000456138.2_Silent_p.S61S	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	61					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)		CCTTATCTGAAGACACCGGCT	0.468000													76	119					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420585	11420585	+	RNA	SNP	G	G	A	rs71057716		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11420585G>A	ENST00000381842.3	-	0	635				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637000													135	408					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049390	161049390	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161049390G>A	ENST00000368012.3	-	2	731	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	143	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGCACTCGGAGCCGCAGCC	0.667000													14	17					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430749	43430749	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43430749C>T	ENST00000446844.3	-	0	918				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGGCTCTGACCATTTAGCCAC	0.468000													91	298					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536586	4536586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:4536586G>A	ENST00000570836.1	-	11	1369	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	ALOX15_ENST00000574640.1_Missense_Mutation_p.H386Y|ALOX15_ENST00000545513.1_Missense_Mutation_p.H447Y|ALOX15_ENST00000293761.3_Missense_Mutation_p.H425Y			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	425	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)	AGCTGCACGTGGCCTCCCCCA	0.582000													17	10					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812855	31812855	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:31812855C>T	ENST00000334067.3	+	1	259	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	70						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGCCAGATCCTATCAGACAT	0.517000													45	97					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30197997	30197997	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30197997G>A	ENST00000397771.2	-	15	1731	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	ASCC2_ENST00000307790.3_Silent_p.D518D|ASCC2_ENST00000542393.1_Silent_p.D442D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTAGGTTGCGGTCCAGCTGGC	0.637000													7	5					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568815	5568815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:5568815C>T	ENST00000331789.5	-	3	531	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	114					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TCGCGGTTGGCCTTGGGGTTC	0.642000													31	58					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067374	62067374	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:62067374G>A	ENST00000404929.1	-	3	776	c.765C>T	c.(763-765)tcC>tcT	p.S255S	FAM161A_ENST00000405894.3_Silent_p.S255S	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	255					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAGATTTCATGGACTCTTCTT	0.378000													19	39					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063009	194063009	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:194063009G>A	ENST00000323830.3	-	2	512	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CPN2_ENST00000429275.1_Silent_p.F141F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	141					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGGTGCTGGAAAAGACCCT	0.602000													42	16					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967947	88967947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:88967947C>T	ENST00000268679.4	-	2	665	c.269G>A	c.(268-270)gGg>gAg	p.G90E	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.G29E|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.G90E|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.G29E|CBFA2T3_ENST00000448839.1_Intron	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	90	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGTGTGGCCCCCTGGGATGC	0.687000			T	RUNX1	AML								10	40					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117679003	117679003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117679003G>T	ENST00000368508.3	-	24	4016	c.3818C>A	c.(3817-3819)tCa>tAa	p.S1273*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.S1268*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1273					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTATTGTTGAATTCCTATT	0.284000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	24					7.87624e-14	7.96462e-14	1	1	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684626	50684626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50684626G>A	ENST00000446044.1	+	12	1584	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.E330K	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	330					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCACTGGGACGAAGTCAAGGT	0.602000													3	11					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058526	97058526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:97058526G>A	ENST00000326771.2	+	6	963	c.583G>A	c.(583-585)Gat>Aat	p.D195N	FHL5_ENST00000541107.1_Missense_Mutation_p.D195N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	195	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTGTAGGAAAGATCTCTGTGA	0.448000													55	146					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													3	30					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266376	266376	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:266376C>T	ENST00000419098.1	-	4	280	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328000													6	23					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432466	26432466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:26432466G>A	ENST00000265944.5	+	21	2518	c.2352G>A	c.(2350-2352)atG>atA	p.M784I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	784	Myosin head-like.				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						AAAAGCCAATGGGTTTACTTT	0.388000													11	42					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647000													4	378					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18242180	18242180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:18242180G>A	ENST00000229002.2	-	2	244	c.38C>T	c.(37-39)tCt>tTt	p.S13F	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Intron|RERGL_ENST00000541632.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	13	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.S13F(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AACAGAAACAGATTTCTCATT	0.333000													6	16					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12090088	12090088	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12090088G>A	ENST00000235332.4	+	8	1018	c.849G>A	c.(847-849)gtG>gtA	p.V283V	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	283										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGCGCAGGGTGAGCATCCCGC	0.667000													29	45					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400639	11400639	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:11400639G>A	ENST00000227756.4	-	4	1179	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGCCCACATTGAACTCCACGT	0.597000													7	20					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57735982	57735982	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57735982G>A	ENST00000360716.3	+	6	860	c.639G>A	c.(637-639)ctG>ctA	p.L213L	CCDC135_ENST00000394337.4_Silent_p.L213L|CCDC135_ENST00000336825.8_Intron			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	213						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACGGCTCGCTGGACCTGTGCC	0.582000													11	77					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27109596	27109596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:27109596C>T	ENST00000380036.4	+	1	450	c.8C>T	c.(7-9)tCt>tTt	p.S3F	TEK_ENST00000519097.1_Missense_Mutation_p.S3F|TEK_ENST00000406359.4_Missense_Mutation_p.S3F	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	3					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGCATGGACTCTTTAGCCAGC	0.403000													65	91					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201047153	201047153	+	Silent	SNP	G	G	A	rs9333651		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201047153G>A	ENST00000362061.3	-	11	1699	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	CACNA1S_ENST00000367338.3_Silent_p.Y491Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	491					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGACATGAAGTACTGGCGCA	0.577000													80	111					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941042	191941042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:191941042G>A	ENST00000392320.2	-	4	597	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	STAT4_ENST00000358470.4_Missense_Mutation_p.H95Y	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	95					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATTTCCATGAAATTTTCCC	0.328000													19	50					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498687	46498687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46498687G>A	ENST00000263284.2	+	2	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AATCAGAAGCGAGAACGCCGG	0.607000													5	11					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48719898	48719898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:48719898G>A	ENST00000316623.5	-	58	7525	c.7070C>T	c.(7069-7071)cCc>cTc	p.P2357L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2357	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.P2357L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGGTGACGGGGTTCCTGTT	0.542000													26	53					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020830	5020830	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5020830T>C	ENST00000321543.1	+	1	618	c.618T>C	c.(616-618)atT>atC	p.I206I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTAGTCATTGCCACACTAG	0.433000													10	49					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521498	64521498	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:64521498T>A	ENST00000355086.3	+	20	3058	c.2534T>A	c.(2533-2535)tTa>tAa	p.L845*	SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.L782*|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.L822*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	845					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GACGGCTATTTAGCCAGGTAA	0.592000													25	43					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169353714	169353714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169353714G>A	ENST00000511577.1	-	12	1655	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	DDX60L_ENST00000505890.1_Missense_Mutation_p.P470S|DDX60L_ENST00000260184.7_Missense_Mutation_p.P470S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	470							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGAACAACCGGATCATCACTG	0.333000													6	16					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796622	57796622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:57796622C>T	ENST00000309042.7	+	4	1912	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	533	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTACATGGTCCTGTGAATGAT	0.373000													12	20					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861689	14861689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14861689G>A	ENST00000285046.5	+	1	1221	c.1111G>A	c.(1111-1113)Ggt>Agt	p.G371S	FGD5_ENST00000543601.1_Missense_Mutation_p.G130S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	371					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						ATCAGCGAAAGGTTTAGAATC	0.562000													20	49					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56342132	56342132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:56342132C>A	ENST00000309964.4	-	6	596	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.E116*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.E116*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	116	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GGACATACCTCTAACATTAAT	0.358000													7	34					1.12685e-05	1.13277e-05	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36342239	36342239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36342239C>T	ENST00000378910.5	-	3	321	c.322G>A	c.(322-324)Gag>Aag	p.E108K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E108K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	108	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCATACTCCGCGTCATCG	0.647000													4	13					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33065796	33065796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:33065796G>A	ENST00000307363.5	-	11	1234	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000399402.3_Missense_Mutation_p.P334S|GLB1_ENST00000445488.2_Missense_Mutation_p.P412S|GLB1_ENST00000307377.8_Missense_Mutation_p.P233S	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	364					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGAGGGATAGGACCTTCTGGT	0.318000													8	13					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036376	21036376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21036376G>A	ENST00000381545.3	+	13	1741	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E508K|LST3_ENST00000540229.1_Missense_Mutation_p.E508K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E508K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	508	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAGTTGTGTGGAAGTAACTGG	0.318000													30	47					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628957	48628957	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:48628957C>T	ENST00000006658.6	+	13	1782	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.F494F|SPATA20_ENST00000356488.4_Silent_p.F538F	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	538					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTGCCAAGTTCCTGAAGCGGC	0.612000													43	118					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278781	152278781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152278781C>T	ENST00000368799.1	-	3	8616	c.8581G>A	c.(8581-8583)Gct>Act	p.A2861T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2861	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGGAAGCTTCATGGTGA	0.577000									Ichthyosis				230	651					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13435174	13435174	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:13435174G>A	ENST00000278174.5	-	6	956	c.711C>T	c.(709-711)atC>atT	p.I237I	BTBD10_ENST00000528120.1_Silent_p.I189I|BTBD10_ENST00000530907.1_Silent_p.I245I	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	237	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CAGGACAACGGATTATTCCTG	0.338000													12	40					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012582	55012582	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:55012582C>T	ENST00000371336.3	+	2	600	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CASS4_ENST00000434344.1_Silent_p.F133F|CASS4_ENST00000360314.3_Silent_p.F133F	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	133					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTATGAATTCCCCGACCCTC	0.572000													68	137					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173432	47173432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:47173432C>T	ENST00000447411.1	-	9	885	c.679G>A	c.(679-681)Gga>Aga	p.G227R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G227R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	227					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGAGAAAATCCACTGGTATAG	0.348000													38	99					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23423648	23423648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:23423648C>T	ENST00000519973.1	+	2	436	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	80					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GAGTCCAGATCCCAAAGCCCA	0.478000													25	28					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629674	9629674	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:9629674C>T	ENST00000382492.2	-	1	789	c.471G>A	c.(469-471)agG>agA	p.R157R	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	157					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAAAATTTCCTTAGGAAGT	0.398000													8	55					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161071386C>T	ENST00000447678.1	-	3	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LPA_ENST00000316300.5_Missense_Mutation_p.E65K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000													91	177					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613212	179613212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179613212C>T	ENST00000360870.5	-	46	14137	c.13915G>A	c.(13915-13917)Gaa>Aaa	p.E4639K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	753	Ig-like 26.						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)			TCCTGCTGTTCCCTAGTTTCT	0.373000													31	98					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38234401	38234401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:38234401G>A	ENST00000558158.1	+	9	668	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMCO5A_ENST00000319669.4_Missense_Mutation_p.E172K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E172K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E172K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	172						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAGTACCAGGAAACGTTGAA	0.368000													44	94					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918103	51918103	+	Silent	SNP	C	C	T	rs145601049	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51918103C>T	ENST00000356298.5	-	8	1706	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Silent_p.Q472Q|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000339313.5_Silent_p.Q530Q	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	530					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGATCCACTCTGGGCCCCAT	0.657000													60	64					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890163	7890163	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7890163G>A	ENST00000542353.1	-	5	733	c.243C>T	c.(241-243)agC>agT	p.S81S	CLEC4C_ENST00000354629.5_Silent_p.S50S|CLEC4C_ENST00000360345.3_Silent_p.S81S|CLEC4C_ENST00000540085.1_Silent_p.S50S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	81					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGGCAGCAGCTCCAATCTT	0.368000													32	54					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034436	58034436	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:58034436T>C	ENST00000395079.2	-	1	1296	c.895A>G	c.(895-897)Aac>Gac	p.N299D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAAAGGCAGTTCCTGGTAAGA	0.498000													32	77					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057043	180057043	+	Silent	SNP	G	G	A	rs140192529		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180057043G>A	ENST00000261937.6	-	5	654	c.576C>T	c.(574-576)ctC>ctT	p.L192L	FLT4_ENST00000502649.1_Silent_p.L192L|FLT4_ENST00000393347.3_Silent_p.L192L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	192	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGACACGAGCATGCCCC	0.642000													13	86					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421744	50421744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50421744C>T	ENST00000435965.1	-	6	708	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E179K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E110K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E179K|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E179K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E179K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E179K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E179K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	179					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GACCCCCTTTCCACATCCTCA	0.542000													123	207					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412559	154412559	+	Silent	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:154412559T>G	ENST00000414028.2	+	3	1166	c.1116T>G	c.(1114-1116)acT>acG	p.T372T	OPRM1_ENST00000520708.1_Silent_p.T272T|OPRM1_ENST00000229768.5_Silent_p.T372T|OPRM1_ENST00000337049.4_Silent_p.T372T|OPRM1_ENST00000522236.1_Silent_p.T272T|OPRM1_ENST00000330432.7_Silent_p.T372T|OPRM1_ENST00000428397.2_Silent_p.T372T|OPRM1_ENST00000435918.2_Silent_p.T372T|OPRM1_ENST00000518759.1_Silent_p.T291T|OPRM1_ENST00000452687.2_Silent_p.T372T|OPRM1_ENST00000522555.1_Silent_p.T272T|OPRM1_ENST00000434900.2_Silent_p.T465T|OPRM1_ENST00000419506.2_Silent_p.T372T|OPRM1_ENST00000360422.4_Silent_p.T372T|OPRM1_ENST00000524163.1_Silent_p.T372T	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	372					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GTCAGAACACTAGAGACCACC	0.418000													31	44					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436827	66436827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66436827G>A	ENST00000341529.3	+	12	2258	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	CDH5_ENST00000539168.1_Missense_Mutation_p.E143K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	704					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGGCCCGGGGAGATGGCAGC	0.716000													18	9					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37431144	37431144	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37431144C>T	ENST00000378621.3	+	1	323	c.21C>T	c.(19-21)ttC>ttT	p.F7F	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Silent_p.F7F	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	7							catalytic activity			lung(4)|pancreas(1)	5						AGCGCTGCTTCGCCAATCGCT	0.677000													15	5					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224630	248224630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248224630C>T	ENST00000359959.3	+	1	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCATGTTCCTATGGCCGG	0.502000													55	20					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515726	47515726	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47515726G>A	ENST00000371901.3	+	12	1660	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	CYP4X1_ENST00000538609.1_Silent_p.L469L	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	470						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.L470L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATTGCCTTGATTCTGCTCC	0.443000													41	111					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623479	143623479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143623479C>T	ENST00000517894.1	+	28	4778	c.3884C>T	c.(3883-3885)cCc>cTc	p.P1295L	BAI1_ENST00000323289.5_Missense_Mutation_p.P1295L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1295					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCCGCTATCCCGGCGGGCCC	0.642000													19	46					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968870	5968870	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5968870C>T	ENST00000329564.6	+	1	301	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGCTTCCCTGCCTGCT	0.532000													45	106					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121868129	121868129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:121868129C>T	ENST00000377071.4	-	23	4045	c.3973G>A	c.(3973-3975)Ggg>Agg	p.G1325R	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G693R|RNF34_ENST00000392464.2_Silent_p.P452P|KDM2B_ENST00000536437.1_3'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1325					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTACTTGCCCAAACTGGACA	0.463000													33	112					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663144	49663144	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49663144C>T	ENST00000249601.4	-	6	989	c.693G>A	c.(691-693)ctG>ctA	p.L231L	ARHGAP22_ENST00000417247.2_Silent_p.L141L|ARHGAP22_ENST00000417912.2_Silent_p.L247L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000435790.2_Silent_p.L237L|ARHGAP22_ENST00000374172.1_Silent_p.L122L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	231	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						GGTACAGCTTCAGCAGGGAGG	0.662000													8	34					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932281	21932281	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:21932281A>T	ENST00000328843.6	+	78	12798	c.12767A>T	c.(12766-12768)gAa>gTa	p.E4256V	DNAH11_ENST00000409508.3_Missense_Mutation_p.E4249V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4256					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTACAGAAGAAAAGGTAGAG	0.398000									Kartagener syndrome				3	5					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132683752	132683752	+	Silent	SNP	C	C	T	rs61745417		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:132683752C>T	ENST00000328957.8	-	9	1463	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	GALNT9_ENST00000535228.1_Silent_p.A239A|GALNT9_ENST00000397325.2_Silent_p.A122A|GALNT9_ENST00000541995.1_Silent_p.A122A	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	488	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGTAGAGGATCGCCCGGTCGC	0.647000													40	51					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60779115	60779115	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60779115C>T	ENST00000583600.1	-	12	2774	c.2490G>A	c.(2488-2490)tcG>tcA	p.S830S	MARCH10_ENST00000311269.5_Silent_p.S792S|MARCH10_ENST00000582358.1_5'UTR|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.S792S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	792							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCCCAACTCCGAATCTGGAA	0.587000													64	168					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55078355	55078355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:55078355G>A	ENST00000302250.2	-	5	764	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.P202S	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	202						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GTAGCCTTGGGATACTTCTCC	0.567000													37	59					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121530221	121530221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:121530221C>T	ENST00000305949.1	+	19	2422	c.2377C>T	c.(2377-2379)Cca>Tca	p.P793S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	793	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)			TCCATTGGTTCCAATTCCTAG	0.388000													40	46					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94128596	94128596	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:94128596C>T	ENST00000282020.4	+	5	1035	c.777C>T	c.(775-777)atC>atT	p.I259I	GRID2_ENST00000510992.1_Silent_p.I164I|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	259					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCACTGGATCATTATAAATG	0.328000													27	65					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916786	149916786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:149916786G>A	ENST00000369135.3	-	12	1796	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	501					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTAGCCACAGAATCTGCTCT	0.562000													141	173					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806092	3806092	+	Missense_Mutation	SNP	C	C	T	rs143641818		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:3806092C>T	ENST00000440314.2	-	4	547	c.74G>A	c.(73-75)gGg>gAg	p.G25E	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.G25E|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G25E	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	25					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCTCCACTCCCCTTTGGCCC	0.602000													18	30					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535704	69535704	+	Silent	SNP	C	C	T	rs149099509	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69535704C>T	ENST00000338206.5	-	1	642	c.633G>A	c.(631-633)agG>agA	p.R211R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	211					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TATTTTTTATCCTCTCCATGA	0.338000													42	96					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543548	4543548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4543548G>A	ENST00000228837.2	-	3	503	c.460C>T	c.(460-462)Caa>Taa	p.Q154*		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	154					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CATTCTTCTTGGAAGCTGGGC	0.532000													53	141					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451458	48451458	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48451458C>T	ENST00000358536.4	-	32	5903	c.5634G>A	c.(5632-5634)gaG>gaA	p.E1878E	PLXNB1_ENST00000448774.2_Silent_p.E489E|PLXNB1_ENST00000358459.4_Silent_p.E1695E|PLXNB1_ENST00000456774.1_Silent_p.E1695E|PLXNB1_ENST00000296440.6_Silent_p.E1878E	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1878					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATGCCCCCCTCATCTACAT	0.692000													20	40					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968324	64968324	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:64968324A>G	ENST00000399262.2	-	10	3323	c.3105T>C	c.(3103-3105)ttT>ttC	p.F1035F	JMJD1C_ENST00000399251.1_Silent_p.F816F|JMJD1C_ENST00000402544.1_Silent_p.F816F|JMJD1C_ENST00000542921.1_Silent_p.F853F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1035					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTAGTTGTAAAGGGAGCAA	0.418000													55	98					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009090	46009090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46009090G>A	ENST00000296137.2	-	8	1941	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	FYCO1_ENST00000535325.1_Missense_Mutation_p.S579F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	579					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTGCAGACTGGAGTTCACAGG	0.632000													35	77					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131469628	131469628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131469628C>T	ENST00000291906.4	+	6	1172	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	260					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTGCGGGCTGCGGTGCCTGGA	0.612000													3	48					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785460	111785460	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111785460G>A	ENST00000261726.6	+	22	3946	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1264						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						CTGACTCTGAGACTGAGGACC	0.632000													35	58					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53150371	53150371	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:53150371C>T	ENST00000376352.2	+	13	1329	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	STXBP4_ENST00000434978.2_Silent_p.I352I	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	374						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGAAGTGATCCGTCTGTTAG	0.443000													49	111					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735241	43735241	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:43735241C>T	ENST00000360835.3	-	2	215	c.88_splice	c.e2-1	p.G30_splice	SCUBE1_ENST00000290460.7_Splice_Site_p.G30_splice	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	30					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTCGACTGACCCTGTGGGTAG	0.592000													22	44					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945320	4945320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:4945320C>T	ENST00000345988.2	-	11	1273	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	PPL_ENST00000590782.2_Missense_Mutation_p.R393Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	395					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGGAGTCTCCCGGCGGTACTT	0.612000													10	53					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807934	2807934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2807934C>T	ENST00000301740.8	+	4	1052	c.503C>T	c.(502-504)cCc>cTc	p.P168L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	168						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGAGCCTCCCAAACCTTAC	0.478000													6	60					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442126	41442126	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:41442126G>A	ENST00000599198.1	+	0	350					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCTGGCCGGGGAAAAATCGTC	0.607000													24	27					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784013	151784013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:151784013G>A	ENST00000255262.3	-	1	827	c.662C>T	c.(661-663)tCc>tTc	p.S221F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	221					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAATAGGAAGGAGGTGACCTG	0.537000													71	69					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154191521	154191521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154191521C>T	ENST00000338700.5	+	2	130	c.65C>T	c.(64-66)cCa>cTa	p.P22L	TRIM2_ENST00000437508.2_5'UTR|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	0						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCCGGCCCCCCATGTCAGTGG	0.488000													29	104					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472946	52472946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52472946G>A	ENST00000231721.2	-	13	1498	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	500	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCTTTTGACAGAGATCTCCAT	0.622000													82	162					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337652	19337652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19337652C>T	ENST00000252575.5	+	7	1473	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	477					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)			GACCCTATGCCTAGGAGAAGG	0.662000													6	41					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108160067	108160067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108160067C>T	ENST00000273353.3	-	24	2812	c.2756G>A	c.(2755-2757)tGg>tAg	p.W919*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	919						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						TTTAATCAGCCACTCGCACTG	0.498000													36	68					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762824	20762824	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:20762824A>G	ENST00000404938.2	+	21	3259	c.2607A>G	c.(2605-2607)gaA>gaG	p.E869E	ABCB5_ENST00000258738.6_Silent_p.E424E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	424					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAAGCAAGAACTTAAGCATG	0.368000													10	38					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320170	247320170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:247320170G>A	ENST00000340684.6	-	4	706	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.H252Y|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GCCTTTATATGTCCTTGCAAG	0.433000													32	80					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448428	25448428	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25448428C>T	ENST00000424208.1	+	0	2163				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTAAAAATCATTCTCAAAA	0.502000													102	209					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385509	69385509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:69385509G>A	ENST00000288025.3	-	1	203	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.S42F	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	50					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GTGCCTCCTGGAGGTATCATG	0.522000													29	118					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590918	234590918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234590918C>T	ENST00000373426.3	+	1	335	c.335C>T	c.(334-336)tCa>tTa	p.S112L	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTAACAAGTTCATCCAATGGT	0.398000													20	85					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24881255	24881255	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:24881255A>G	ENST00000347898.3	+	4	863	c.241A>G	c.(241-243)Agt>Ggt	p.S81G	SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000569071.1_Missense_Mutation_p.S17G|SLC5A11_ENST00000567758.1_Missense_Mutation_p.S81G|SLC5A11_ENST00000424767.2_Missense_Mutation_p.S81G|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.S17G|SLC5A11_ENST00000539472.1_Missense_Mutation_p.S17G|SLC5A11_ENST00000449109.2_Missense_Mutation_p.S17G	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	81					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAATGTTGGAAGTGGACATTT	0.498000													12	63					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785554	113785554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113785554C>T	ENST00000327407.2	-	5	507	c.400G>A	c.(400-402)Gga>Aga	p.G134R	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	80					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGGGCTGTCCTGATGTGGTG	0.468000													19	45					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013314	49013314	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49013314G>A	ENST00000600059.1	-	3	554	c.327C>T	c.(325-327)tcC>tcT	p.S109S	LMTK3_ENST00000270238.3_Silent_p.S138S					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCATTGGCAGGGAGACCTCAG	0.622000													7	40					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031365	112031365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:112031365C>T	ENST00000369716.4	-	3	872	c.739G>A	c.(739-741)Gat>Aat	p.D247N	ADORA3_ENST00000369717.4_Missense_Mutation_p.D166N	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					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)	TCTGTAAAATCCATGTCATCC	0.532000													15	28					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290895	5290895	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5290895A>T	ENST00000380237.1	-	4	448	c.104T>A	c.(103-105)gTt>gAt	p.V35D	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V35D			P02100	HBE_HUMAN	hemoglobin, epsilon 1	35					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGGTAAACAACGAGGAG	0.458000													16	19					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892485	18892485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:18892485C>T	ENST00000380548.4	+	26	5081	c.4742C>T	c.(4741-4743)tCc>tTc	p.S1581F	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.S282F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1581	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTGGGATCTCCACCCCTGTG	0.622000													9	11					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638133	12638133	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12638133G>C	ENST00000339282.7	-	4	985	c.789C>G	c.(787-789)gaC>gaG	p.D263E	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AACTGGGGCGGTCAAAGGCTT	0.398000													43	48					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100450	3100450	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3100450G>A	ENST00000336577.4	+	4	801	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	188					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TCGACGGGTTGGGGGGCACCC	0.602000													35	22					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48148370	48148370	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:48148370A>C	ENST00000381501.3	-	12	1210	c.1053T>G	c.(1051-1053)aaT>aaG	p.N351K	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	351					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGTGGGTGCATTCTTCCCTT	0.398000													37	132					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542979	28542979	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28542979G>A	ENST00000452236.2	-	3	2120	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	501	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F501F(1)		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						ACATCTGAATGAACCACAAAA	0.433000													50	106					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301614	113301614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:113301614C>T	ENST00000297405.5	-	57	9372	c.9128G>A	c.(9127-9129)gGa>gAa	p.G3043E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2973E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3003E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2874E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3043	Sushi 21.					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						AGGTTGTGATCCACTCCAATG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	96					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552989	106552989	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:106552989C>T	ENST00000369096.4	+	5	1188	c.954C>T	c.(952-954)atC>atT	p.I318I	PRDM1_ENST00000369091.2_Silent_p.I282I|PRDM1_ENST00000369089.3_Silent_p.I184I	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	318					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTACGGGATCGAGAGACCCA	0.607000			"""D, N, Mis, F, S"""		DLBCL								44	93					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49707169	49707169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:49707169G>A	ENST00000303221.5	-	3	460	c.245C>T	c.(244-246)tCt>tTt	p.S82F	EMB_ENST00000508934.1_Intron|EMB_ENST00000514111.1_Missense_Mutation_p.S32F|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	82	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATTTACATTAGAAGGCCTTTC	0.328000													16	66					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074056	8074056	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:8074056G>A	ENST00000377482.5	-	4	826	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	201					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CACACCCACGGAAGCTTCGCC	0.443000													21	26					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87759716	87759716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:87759716G>A	ENST00000398204.4	+	10	1090	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	ADAM22_ENST00000398209.3_Missense_Mutation_p.R256Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.R256Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAACATCGGCTTTCCGTT	0.368000													28	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064771	9064771	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9064771C>A	ENST00000397910.4	-	3	22878	c.22675G>T	c.(22675-22677)Gca>Tca	p.A7559S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7561	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						ACAGTGTTTGCTTCTGTGGCT	0.493000													43	44					4.64027e-19	4.71724e-19	1	1	0
IL1RL2	8808	broad.mit.edu	37	2	102842385	102842385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:102842385G>A	ENST00000264257.2	+	9	1145	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	IL1RL2_ENST00000539491.1_Missense_Mutation_p.G340E|IL1RL2_ENST00000441515.2_Missense_Mutation_p.G222E|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	340					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TACTTGATAGGAGGGCTTATC	0.343000													8	19					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903898	70903898	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:70903898C>T	ENST00000413157.2	-	13	2102	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	ADD2_ENST00000355733.3_Intron|ADD2_ENST00000430656.1_Silent_p.G557G|ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron	NM_017482.3	NP_059516.2	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AACACGTTTCCCCGCCAGTCA	0.632000													10	27					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407847	50407847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:50407847C>T	ENST00000217086.4	-	2	1286	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	392					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTATCAGTCCCAAAAACCTT	0.562000													38	82					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3227431	3227431	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:3227431C>T	ENST00000355072.5	+	57	7954	c.7809C>T	c.(7807-7809)ccC>ccT	p.P2603P		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2603					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGATCAACCCCGAGCGGGAGC	0.642000													4	31					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171607853	171607853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171607853C>T	ENST00000037502.5	-	2	673	c.614G>A	c.(613-615)tGg>tAg	p.W205*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	205					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTCCAAATTCCACGTAGAAAC	0.428000													37	98					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993113	113993113	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113993113G>A	ENST00000429538.3	-	9	1139	c.945C>T	c.(943-945)tcC>tcT	p.S315S	PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000348715.5_Intron|AC016683.6_ENST00000437551.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	315	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCTAGAACTGGACACCTCGG	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis						19	30					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130763803	130763803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:130763803C>T	ENST00000276708.4	-	10	1809	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	310						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAAGGGTTCCTCTATTCTT	0.478000													24	69					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934337	176934337	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176934337G>A	ENST00000367654.2	-	9	1597	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	ASTN1_ENST00000367657.3_Silent_p.D520D|ASTN1_ENST00000361833.2_Silent_p.D520D|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.D520D			O14525	ASTN1_HUMAN	astrotactin 1	528					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAAAACCAGGTCAAAGCCTC	0.433000													45	80					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108397	21108397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:21108397G>A	ENST00000377122.4	-	20	2407	c.2011C>T	c.(2011-2013)Ccg>Tcg	p.P671S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	671					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTATCTCCGGGGTCATGCTT	0.423000													54	188					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701899	181701899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:181701899G>A	ENST00000526775.1	+	19	2785	c.2620G>A	c.(2620-2622)Gac>Aac	p.D874N	CACNA1E_ENST00000357570.5_Missense_Mutation_p.D844N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D825N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D893N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D893N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D874N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D500N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	893					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGAAACTGTGACCCGACTCA	0.677000													27	53					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961513	73961513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:73961513G>A	ENST00000373468.1	-	3	3530	c.2879C>T	c.(2878-2880)tCt>tTt	p.S960F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S960F			Q5QGS0	K2022_HUMAN	KIAA2022	960					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGTCATCAGATGGGAGTTG	0.433000													93	30					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413331	178413331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:178413331C>T	ENST00000231188.5	-	8	2102	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V642M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	642					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTCAGCCACCATGAGGAAG	0.652000													17	12					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710953	140710953	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140710953T>A	ENST00000517417.1	+	1	702	c.702T>A	c.(700-702)gaT>gaA	p.D234E	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D234E	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGATGCAAATGACA	0.498000													8	41					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175863	57175863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57175863G>A	ENST00000537055.2	-	2	935	c.704C>T	c.(703-705)tCg>tTg	p.S235L		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						TATCAGGGACGAGCGGTTGCG	0.697000													27	25					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771924	157771924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:157771924C>T	ENST00000358292.3	-	5	718	c.667G>A	c.(667-669)Gat>Aat	p.D223N	FCRL1_ENST00000491942.1_Missense_Mutation_p.D223N|FCRL1_ENST00000368176.3_Missense_Mutation_p.D223N|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCAGCACATCCTCCACTGCA	0.592000													37	41					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108102576	108102576	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108102576C>T	ENST00000273353.3	-	41	5748	c.5691_splice	c.e41-1	p.E1898_splice		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1898						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						GCTTGTGTTTCCtataaaaat	0.328000													14	33					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315655	25315655	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25315655C>T	ENST00000549804.2	+	0	678				SNORD116-8_ENST00000384365.1_RNA|SNHG14_ENST00000551077.1_RNA																							TACCGTCGTTCTCATCGGAAC	0.493000													81	133					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102465482	102465482	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102465482G>A	ENST00000260228.2	-	7	972	c.960C>T	c.(958-960)ttC>ttT	p.F320F	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	320	Hemopexin-like 1.				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)		GCCGTCTCCAGAAAATCCTAT	0.418000													13	24					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271985	1271985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:1271985G>A	ENST00000234798.4	-	6	773	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	257	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R257C(1)		liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GCAGGGACACGAGTGTAGACT	0.672000													29	24					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67206955	67206955	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:67206955G>A	ENST00000371037.4	+	24	2377	c.2299_splice	c.e24-1	p.G767_splice	SGIP1_ENST00000435165.2_Splice_Site_p.G272_splice|SGIP1_ENST00000371035.3_Splice_Site_p.G557_splice|SGIP1_ENST00000371036.3_Splice_Site_p.G569_splice|SGIP1_ENST00000371039.1_Splice_Site_p.G570_splice|SGIP1_ENST00000237247.6_Splice_Site_p.G798_splice	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	767					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTTTTTTAGGGGTGGGTTCT	0.383000													17	50					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121238874	121238874	+	Missense_Mutation	SNP	G	G	A	rs146111884		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121238874G>A	ENST00000264233.5	-	9	1440	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	438	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCCAAGACCCGAATGAGACCT	0.398000								DNA polymerases (catalytic subunits)					38	81					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37541213	37541213	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:37541213T>A	ENST00000432825.2	-	2	601	c.553A>T	c.(553-555)Acg>Tcg	p.T185S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CAGGCTGGCGTGAAGACGAGG	0.557000													24	117					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987468	35987468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35987468C>T	ENST00000490799.1	-	2	370	c.17G>A	c.(16-18)aGg>aAg	p.R6K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R6K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R6K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	6					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATGGCGCTCCTCTCTAGTTG	0.423000													11	25					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931745	115931745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:115931745C>T	ENST00000238256.3	-	26	3361	c.3244G>A	c.(3244-3246)Gaa>Aaa	p.E1082K		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1082					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGTGCTACTTCCCTGACACAG	0.582000													102	64					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550496	8550496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8550496G>A	ENST00000348943.3	+	15	1299	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	HNRNPM_ENST00000325495.4_Missense_Mutation_p.G395E	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	395					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGTGGAGGTGGAGGAAGCGTC	0.622000													84	95					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646249	101646249	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101646249C>T	ENST00000342239.3	-	13	3589	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	DNMBP_ENST00000324109.4_Silent_p.K1142K|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Silent_p.K78K|DNMBP_ENST00000543621.1_Silent_p.K388K			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1142	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTCTTGTCCTTTAGCTTTT	0.527000													47	88					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60559994	60559994	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:60559994T>C	ENST00000373886.3	+	13	1770	c.1766T>C	c.(1765-1767)cTt>cCt	p.L589P	BICC1_ENST00000263103.1_Missense_Mutation_p.L215P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	589					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACTTCATCACTTGGAGAAAAA	0.398000													16	24					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023795	32023795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32023795G>A	ENST00000375244.3	-	24	8501	c.8300C>T	c.(8299-8301)aCc>aTc	p.T2767I	TNXB_ENST00000375247.2_Missense_Mutation_p.T2767I			P22105	TENX_HUMAN	tenascin XB	2825	Fibronectin type-III 19.				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						GTACTGCACGGTGAAGGAGTC	0.677000													27	76					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087738	92087738	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:92087738T>A	ENST00000298047.6	+	1	2477	c.2460T>A	c.(2458-2460)aaT>aaA	p.N820K	FAT3_ENST00000409404.2_Missense_Mutation_p.N820K|FAT3_ENST00000541502.1_Missense_Mutation_p.N820K|FAT3_ENST00000525166.1_Missense_Mutation_p.N670K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	820	Cadherin 7.				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)				TGACCATCAATGTGGAGGATG	0.408000										TCGA Ovarian(4;0.039)			18	28					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113994189	113994189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113994189G>A	ENST00000429538.3	-	8	1081	c.887C>T	c.(886-888)cCc>cTc	p.P296L	PAX8_ENST00000263334.5_Missense_Mutation_p.P296L|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.P296L|AC016683.6_ENST00000437551.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	296					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCCACCACGGGGTAGGTCTG	0.687000			T	PPARG	follicular thyroid		Thyroid dysgenesis						3	7					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494239	111494239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111494239G>A	ENST00000369763.4	-	2	1657	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTCTCCATCTGGGAAGATTTA	0.403000													68	209					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509256	105509256	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:105509256G>A	ENST00000276654.5	-	5	1632	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	LRP12_ENST00000424843.2_Silent_p.L489L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	508					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)			ATGCTATGACGAGTAACAGGC	0.458000													17	48					0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86708573	86708573	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:86708573G>A	ENST00000256897.4	-	1	263	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000504878.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	13					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CCTCGCTGGAGAAGGTCCAGT	0.572000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					18	34					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5529770	5529770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:5529770G>A	ENST00000453700.3	-	5	2191	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	692									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCAGTGGCTCGAGACGTCCTG	0.617000													8	11					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732417	155732417	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:155732417C>T	ENST00000159060.2	-	11	1488	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	462							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)		GCTCACTCATCCGTGTTTCCA	0.428000													22	41					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240122	3240122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:3240122G>A	ENST00000217939.6	-	5	3758	c.3604C>T	c.(3604-3606)Cct>Tct	p.P1202S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1202						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)				CAAGCTGTAGGAACCAGAGAA	0.463000													53	12					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152026	48152026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:48152026C>T	ENST00000418331.2	+	8	1725	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	PTPRJ_ENST00000440289.2_Missense_Mutation_p.S458F	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	458	Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCAGTTTCTGACTTCCGA	0.463000													22	52					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47581731G>A	ENST00000285039.7	-	2	344	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	15	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453000													36	56					0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112375546	112375546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:112375546C>T	ENST00000361714.1	+	1	85	c.40C>T	c.(40-42)Cac>Tac	p.H14Y	WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000230529.5_5'UTR|WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000604763.1_5'UTR			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGGGTGGCTCCACGGTCCCAG	0.607000													65	141					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622102	156622102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156622102G>A	ENST00000329117.4	+	8	1696	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	BCAN_ENST00000361588.5_Missense_Mutation_p.E454K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	454	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAAGGCATTggaggaagaaga	0.517000													17	53					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2380991	2380991	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2380991A>G	ENST00000202625.2	+	7	951	c.890A>G	c.(889-891)aAc>aGc	p.N297S	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.N297S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	297					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTCGTGTCCAACTTCAACTCA	0.617000													36	67					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193774	152193774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152193774C>T	ENST00000368801.2	-	3	406	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	111					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTTGTTCCTCTTGGTGC	0.418000													55	54					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141884533	141884533	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:141884533T>C	ENST00000392993.2	-	16	1672	c.1521A>G	c.(1519-1521)gaA>gaG	p.E507E		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	507					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TCATTTCATATTCTTGACATT	0.363000													111	45					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117426628	117426628	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117426628T>C	ENST00000455858.2	+	7	1068	c.995T>C	c.(994-996)gTt>gCt	p.V332A	FBXW8_ENST00000309909.5_Missense_Mutation_p.V398A	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	398							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCCAACCAAGTTGCTTTTGGT	0.463000													61	122					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159568	94159568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:94159568G>A	ENST00000282020.4	+	8	1430	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	GRID2_ENST00000510992.1_Missense_Mutation_p.G296E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	391					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAGAAAATGGAGGCAATCCC	0.388000													40	63					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76342465	76342465	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76342465T>G	ENST00000312916.7	+	6	1546	c.1164T>G	c.(1162-1164)agT>agG	p.S388R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	388					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CCATTACCAGTGAAGGCAATG	0.373000													15	98					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326289	24326289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24326289G>A	ENST00000175238.6	+	7	672	c.589G>A	c.(589-591)Gat>Aat	p.D197N	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D197N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	197					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGCATCCATGATGAAAAGTA	0.313000													16	60					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422911	37422911	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37422911G>T	ENST00000374660.1	+	5	616	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V173F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V173F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	229						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						TCAGCAAAATGTTGACGTCTT	0.388000													69	114					1.74474e-33	1.78972e-33	1	1	0
TMC4	147798	broad.mit.edu	37	19	54675776	54675776	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54675776A>G	ENST00000376591.4	-	2	305	c.174T>C	c.(172-174)ccT>ccC	p.P58P	TMC4_ENST00000301187.4_Silent_p.P52P	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	58						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCCCCCCAAGGCAGCACCC	0.657000													15	56					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874481	39874481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:39874481C>T	ENST00000260356.5	+	3	320	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	52	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTGAAGGGCCCCGACCCTTCC	0.612000													36	55					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23653976	23653976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:23653976C>T	ENST00000305877.8	+	19	4026	c.3275C>T	c.(3274-3276)tCc>tTc	p.S1092F	BCR_ENST00000359540.3_Missense_Mutation_p.S1048F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1092	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACCGCGTGTCCGGTGTGGCC	0.652000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								25	57					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89061118	89061118	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:89061118G>A	ENST00000237612.3	-	2	575	c.30C>T	c.(28-30)atC>atT	p.I10I	ABCG2_ENST00000515655.1_Silent_p.I10I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	10					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTGACACTGGGATAAAAACTT	0.408000													11	21					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269346	150269346	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150269346A>C	ENST00000255945.2	+	3	363	c.188A>C	c.(187-189)aAa>aCa	p.K63T	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.K77T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	63							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTGCAGCAAAATCCATTACC	0.463000													23	64					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879777	39879777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39879777G>A	ENST00000221265.3	-	7	853	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PAF1_ENST00000595564.1_Nonsense_Mutation_p.Q165*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.Q165*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	175					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTGATCTGGCTATCCCTG	0.502000													68	113					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712866	95712866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:95712866G>A	ENST00000524717.1	-	5	4001	c.2717C>T	c.(2716-2718)cCt>cTt	p.P906L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	906					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGCATCATAGGGTTGTTTTG	0.408000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								32	72					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019659	41019659	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41019659G>A	ENST00000585538.1	+	0	498					NR_002773.1																						ACCTGCCCGGGAGGCACTGGC	0.657000													11	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438970	179438970	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179438970C>T	ENST00000589042.1	-	326	72113	c.71889G>A	c.(71887-71889)aaG>aaA	p.K23963K	TTN_ENST00000460472.2_Silent_p.K14898K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.K21395K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K15023K|TTN_ENST00000591111.1_Silent_p.K22322K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K15090K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22322	Fibronectin type-III 74.						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)			GAAGGTCTCTCTTTTCAACGA	0.398000													8	16					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908889	10908889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10908889G>A	ENST00000298232.7	-	22	1769	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	TPTE_ENST00000342420.5_Missense_Mutation_p.P448S|TPTE_ENST00000361285.4_Missense_Mutation_p.P486S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	486	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTATGTAGGAAGATTCTAA	0.264000													5	17					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101552103	101552103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101552103C>T	ENST00000536262.2	-	14	2192	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	545					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						CTGTTTTCTTCCTCCTGGAAA	0.343000													33	87					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37447020	37447020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:37447020C>T	ENST00000379826.4	-	3	787	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	SMAD9_ENST00000399275.2_Missense_Mutation_p.E149K|SMAD9_ENST00000350148.5_Missense_Mutation_p.E149K	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	149					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGGTTATATTCACTGTGTCTT	0.522000													31	29					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616136	92616136	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:92616136T>C	ENST00000298047.6	+	23	12531	c.12514T>C	c.(12514-12516)Ttc>Ctc	p.F4172L	FAT3_ENST00000409404.2_Missense_Mutation_p.F4172L|FAT3_ENST00000533797.1_Missense_Mutation_p.F507L|FAT3_ENST00000525166.1_Missense_Mutation_p.F4022L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4172					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)				GGTGGTTCTCTTCATAGTCTT	0.572000										TCGA Ovarian(4;0.039)			5	8					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828856	125828856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125828856C>T	ENST00000393434.2	-	20	2627	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E760K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E770K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E659K|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	760	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCAGTACTCCATCAGCTTC	0.622000													25	69					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575489	71575489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:71575489C>T	ENST00000304743.2	+	34	6916	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	PCNX_ENST00000238570.5_Missense_Mutation_p.S2085L|PCNX_ENST00000439984.3_Missense_Mutation_p.S2046L|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2157	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTCAGATATCGCTTCGAAAC	0.567000													3	52					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022919	11022919	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11022919G>A	ENST00000304623.8	-	17	3150	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	CTNND2_ENST00000458100.2_Silent_p.I554I|CTNND2_ENST00000359640.2_Silent_p.I929I|CTNND2_ENST00000511377.1_Silent_p.I896I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I650I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	987					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I987I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCAACTTCTCGATGCCACCGG	0.498000													30	42					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593843	123593843	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:123593843C>T	ENST00000340011.5	+	3	576	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SPAM1_ENST00000439500.1_Silent_p.F73F|SPAM1_ENST00000402183.2_Silent_p.F73F|SPAM1_ENST00000460182.1_Silent_p.F73F|SPAM1_ENST00000223028.7_Silent_p.F73F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	73					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGAGCCTCTTCTCTTTCATAG	0.433000													11	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469494	179469494	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179469494T>C	ENST00000589042.1	-	281	54546	c.54322A>G	c.(54322-54324)Agt>Ggt	p.S18108G	TTN_ENST00000460472.2_Missense_Mutation_p.S9043G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15540G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9168G|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16467G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9235G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16467	Fibronectin type-III 31.						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)			TTCTTCCTACTTGCATCACGT	0.388000													20	73					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309290	43309290	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:43309290G>A	ENST00000380486.3	-	14	2275	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	C2CD2_ENST00000329623.7_Silent_p.L523L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	678						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGTGCCTGGAGAGCAGCTTCT	0.577000													13	38					0	0	1	0	0
ADIRF	10974	broad.mit.edu	37	10	88730307	88730307	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:88730307G>T	ENST00000372013.3	+	3	552	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W		NM_006829.2	NP_006820.1			adipogenesis regulatory factor																		CACCTTCTCTGGGATTGGGAA	0.592000													6	17					5.18039e-06	5.211e-06	1	1	0
C3orf56	285311	broad.mit.edu	37	3	126915670	126915670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:126915670G>A	ENST00000398112.1	+	2	382	c.142G>A	c.(142-144)Gga>Aga	p.G48R		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TACCTGCTTGGGAGCCCAGCC	0.632000													8	15					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525829	41525829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:41525829C>T	ENST00000396942.1	-	39	5433	c.5350G>A	c.(5350-5352)Gag>Aag	p.E1784K	ANK1_ENST00000265709.8_Missense_Mutation_p.E1825K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1784K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1784K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1784K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1784K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1784K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1784	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCACCTGCTCTTCTTGGCCT	0.632000													33	74					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170315	207170315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207170315G>A	ENST00000374423.3	+	5	1449	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	355							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCCTTTTGGGAACAGAAGTG	0.388000													11	36					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884658	52884658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52884658C>T	ENST00000330722.6	-	4	964	c.896G>A	c.(895-897)aGa>aAa	p.R299K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	299	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATACAAGGCTCTCAGGAAGTT	0.483000													34	70					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168465650	168465650	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:168465650G>A	ENST00000283309.6	-	5	613	c.549C>T	c.(547-549)ttC>ttT	p.F183F	FRMD1_ENST00000440994.2_Silent_p.F115F|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	183	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCAGCAGGAAGTAGGCTT	0.657000													26	23					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890581	15890581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:15890581C>T	ENST00000375847.3	+	10	1660	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	DNAJC16_ENST00000375838.1_Missense_Mutation_p.P499L|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.P499L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	499					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAGTGCTTCCTGACCTGACC	0.552000													68	169					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158609037	158609037	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:158609037C>G	ENST00000424310.2	-	4	675	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	RNF145_ENST00000518802.1_Missense_Mutation_p.E136Q|RNF145_ENST00000520638.1_Missense_Mutation_p.E120Q|RNF145_ENST00000519865.1_Missense_Mutation_p.E106Q|RNF145_ENST00000521606.2_Missense_Mutation_p.E123Q|RNF145_ENST00000274542.2_Missense_Mutation_p.E134Q	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	106						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGCAAACTCCAGTTCACTC	0.328000													3	121					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582442	55582442	+	Missense_Mutation	SNP	C	C	T	rs145499180	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55582442C>T	ENST00000361849.3	-	34	5444	c.5050G>A	c.(5050-5052)Gaa>Aaa	p.E1684K	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1642K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1682K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1679K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1659K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1613K|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1682					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTTGAGTTCCACAGTTCTT	0.428000										HNSCC(58;0.16)			24	66					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822425	72822425	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72822425T>A	ENST00000268489.5	-	10	10422	c.9750A>T	c.(9748-9750)aaA>aaT	p.K3250N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K2336N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3250					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTTCCCCTTTCCCTTTGT	0.587000													48	147					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57496666	57496666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57496666G>A	ENST00000351747.2	-	5	500	c.320C>T	c.(319-321)cCt>cTt	p.P107L	DNAH12_ENST00000311202.6_Missense_Mutation_p.P107L|DNAH12_ENST00000389536.4_Missense_Mutation_p.P107L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	107	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						AGGTACTAAAGGACTACTTTC	0.353000													20	40					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338074	72338074	+	Splice_Site	SNP	G	G	A	rs77828767		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:72338074G>A	ENST00000333850.3	+	3	397	c.255_splice	c.e3-1	p.E86_splice	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	86	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTTTCCACAGGAAAAACGTGT	0.423000													29	53					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045727	53045727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53045727C>T	ENST00000309680.3	-	1	221	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	67	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGTCCCTCCAAGGCCAAC	0.622000													16	59					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51723610	51723610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:51723610G>A	ENST00000293636.1	-	7	657	c.617C>T	c.(616-618)tCt>tTt	p.S206F		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	206	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GGGGCCCCCAGAGTCACCCTG	0.547000													34	93					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739578	44739578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44739578G>A	ENST00000313040.7	+	6	1200	c.995G>A	c.(994-996)gGa>gAa	p.G332E	ZNF227_ENST00000391961.2_Missense_Mutation_p.G281E|ZNF227_ENST00000589005.1_Missense_Mutation_p.G281E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TGCGGCAAGGGATTCAGTAGC	0.393000													30	50					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758905	55758905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55758905C>T	ENST00000343399.3	+	1	11	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATGAGAAATTCCACAGCAGTA	0.323000													27	77					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125873441	125873441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125873441C>T	ENST00000393434.2	-	6	1025	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G236R|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G226R|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G226R|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G125R|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.G51R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	226					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G226W(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTCGTTCCCGCGGATCCAG	0.617000													92	104					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269224	63269224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:63269224G>A	ENST00000322893.7	-	9	1913	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P549S|KCNH5_ENST00000394968.1_Missense_Mutation_p.P491S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	549					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)		CGAAAAGCAGGATGTTCATTA	0.493000													33	30					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008626	142008626	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142008626G>A	ENST00000390387.3	+	0	146																											TGGTCACACAGATGGGAAACG	0.423000													10	62					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358285	72358285	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:72358285G>T	ENST00000441259.1	-	3	1352	c.1192C>A	c.(1192-1194)Cat>Aat	p.H398N	PRF1_ENST00000373209.2_Missense_Mutation_p.H398N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	398	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCTGAGCCATGGCACACACAC	0.687000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				6	22					0.0167234	0.0167672	1	1	0
PLAGL1	5325	broad.mit.edu	37	6	144263313	144263313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:144263313C>T	ENST00000360537.2	-	5	2553	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PLAGL1_ENST00000444202.1_Missense_Mutation_p.E214K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E214K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E162K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E214K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E162K|PLAGL1_ENST00000437412.1_Missense_Mutation_p.E162K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E214K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E214K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E214K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	214					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGCAAGCTCTCTTTCATCAGC	0.547000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	111					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699026	49699026	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:49699026T>A	ENST00000303221.5	-	6	1078	c.863A>T	c.(862-864)aAa>aTa	p.K288I	EMB_ENST00000508934.1_Missense_Mutation_p.K234I|EMB_ENST00000514111.1_Missense_Mutation_p.K238I	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	288						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGCTTCTTTTTCTTTTGTGT	0.323000													25	21					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80672816	80672816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:80672816G>A	ENST00000458043.2	+	25	2777	c.2771G>A	c.(2770-2772)cGa>cAa	p.R924Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.R924Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCGTTTGTCGACGAGGAATG	0.358000													59	121					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681198	3681198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:3681198C>T	ENST00000250693.1	+	3	550	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	150					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)	CACCACTTCTCCTTCAAGACA	0.667000													17	55					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99870699	99870699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:99870699C>T	ENST00000409679.1	-	2	169	c.25G>A	c.(25-27)Gga>Aga	p.G9R	LYG2_ENST00000409238.1_Missense_Mutation_p.G9R|LYG2_ENST00000333017.2_Missense_Mutation_p.G9R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	9					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GCAATTAGTCCCCAAAACACC	0.418000													33	58					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170782	100170782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:100170782C>T	ENST00000317233.4	-	23	3785	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	AFF3_ENST00000409579.1_Missense_Mutation_p.E1209K|AFF3_ENST00000409236.1_Missense_Mutation_p.E1184K|AFF3_ENST00000356421.2_Missense_Mutation_p.E1209K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1184					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						CCTCGGTTTTCCTTGGCCAGG	0.622000													48	85					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342489	60342489	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60342489G>A	ENST00000581291.1	-	0	1664																				breast(2)|kidney(1)|lung(2)	5						TGCCCTGGTCGGAATCAGTGC	0.622000													39	175					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234835194	234835194	+	Silent	SNP	G	G	A	rs149800225	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234835194G>A	ENST00000324695.4	+	2	52	c.12G>A	c.(10-12)cgG>cgA	p.R4R	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	4						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTCCTTTCGGGCAGCCAGGC	0.527000													37	71					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299120	54299120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54299120C>T	ENST00000324134.6	-	9	3259	c.3091G>A	c.(3091-3093)Gtc>Atc	p.V1031I	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.V974I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V1032I|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000351894.4_Missense_Mutation_p.V919I|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1031					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACCAGAGGACTCGGAGTTTG	0.552000													11	24					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9000234	9000234	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9000234C>T	ENST00000299698.7	+	15	1953	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.L100L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	435						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGTGTGCGCTCCGGGCGGTGG	0.612000													80	133					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138957149	138957149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138957149G>A	ENST00000288561.8	+	9	1678	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	UBN2_ENST00000473989.2_Missense_Mutation_p.E560K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	560										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATACCAGGAGGACTGCCA	0.393000													119	137					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965945	69965945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:69965945C>T	ENST00000299293.2	+	9	970	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	FRS2_ENST00000397997.2_Missense_Mutation_p.P154S|FRS2_ENST00000550389.1_Missense_Mutation_p.P154S|FRS2_ENST00000549921.1_Missense_Mutation_p.P154S	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	154					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCCGATATCCCTCATTTGG	0.478000													38	56					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850624	216850624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:216850624G>A	ENST00000391890.3	-	4	714	c.197C>T	c.(196-198)cCt>cTt	p.P66L	ESRRG_ENST00000361525.3_Missense_Mutation_p.P66L|ESRRG_ENST00000408911.3_Missense_Mutation_p.P89L|ESRRG_ENST00000366940.2_Missense_Mutation_p.P66L|ESRRG_ENST00000366937.1_Missense_Mutation_p.P94L|ESRRG_ENST00000493748.1_Missense_Mutation_p.P66L|ESRRG_ENST00000360012.3_Missense_Mutation_p.P66L|ESRRG_ENST00000493603.1_Missense_Mutation_p.P66L|ESRRG_ENST00000463665.1_Missense_Mutation_p.P66L|ESRRG_ENST00000361395.2_Missense_Mutation_p.P66L|ESRRG_ENST00000487276.1_Missense_Mutation_p.P66L|ESRRG_ENST00000359162.2_Missense_Mutation_p.P66L|ESRRG_ENST00000366938.2_Missense_Mutation_p.P66L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	89					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCCAGGATAGGAGCAGAAGG	0.537000													57	90					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673799	120673799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:120673799G>A	ENST00000273666.6	+	3	473	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G68S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G68S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	68					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)		AGTTCGGCATGGTTTTCCTCA	0.378000													34	40					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885171	24885171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24885171C>T	ENST00000382554.3	+	9	4534	c.4216C>T	c.(4216-4218)Cct>Tct	p.P1406S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1406					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCTCCACTCCCTCACCCAAG	0.582000													47	52					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42874187	42874187	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:42874187C>T	ENST00000025301.2	+	8	1480	c.1305C>T	c.(1303-1305)cgC>cgT	p.R435R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	435					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTCTCCTCGCCCAGTGAAGG	0.468000													116	60					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13090813	13090813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13090813G>A	ENST00000399002.2	+	7	1155	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R294Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	294					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGCCAGCCTCGAACCCGCAGA	0.443000													23	73					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121301985	121301985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:121301985C>T	ENST00000297848.3	+	34	4486	c.4216C>T	c.(4216-4218)Cca>Tca	p.P1406S	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1311S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1406S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1406	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATCAAGAGGACCAGGTGGAAA	0.428000													72	53					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070248	35070248	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:35070248C>T	ENST00000382002.5	-	7	1089	c.663G>A	c.(661-663)gcG>gcA	p.A221A	PRLR_ENST00000342362.5_Silent_p.A120A|PRLR_ENST00000542609.1_Silent_p.A221A|PRLR_ENST00000310101.5_Silent_p.A221A|PRLR_ENST00000231423.3_Silent_p.A221A|PRLR_ENST00000397391.3_Silent_p.A150A|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Silent_p.A221A|PRLR_ENST00000513753.1_Silent_p.A221A|PRLR_ENST00000511486.1_Silent_p.A120A	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	221	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAATGAAGGTCGCTGGACTCC	0.403000													27	23					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207700202	207700202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207700202G>A	ENST00000367049.4	+	6	991	c.991G>A	c.(991-993)Gac>Aac	p.D331N	CR1_ENST00000367050.4_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.D331N|CR1_ENST00000400960.2_Missense_Mutation_p.D331N|CR1_ENST00000367053.1_Missense_Mutation_p.D331N|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	331	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCCGGCTACGACCTCAGAGG	0.572000													97	21					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415346	210415346	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210415346T>C	ENST00000367012.3	+	4	965	c.735T>C	c.(733-735)gaT>gaC	p.D245D	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	245							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCCAGGTGGATTTTGATGTAG	0.498000													16	22					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425020	113425020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113425020G>A	ENST00000392583.2	+	2	562	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Missense_Mutation_p.E119K|OAS2_ENST00000342315.4_Missense_Mutation_p.E119K	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	119	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACAATTTCGAGATCCAGAA	0.458000													31	76					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123073312	123073312	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:123073312A>T	ENST00000333479.7	+	40	4125	c.3948A>T	c.(3946-3948)aaA>aaT	p.K1316N	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1316					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)		TGGAATTGAAAGAAAAAGCTG	0.274000													4	4					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332505	76332505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76332505G>A	ENST00000312916.7	+	4	1023	c.641G>A	c.(640-642)gGa>gAa	p.G214E		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	214					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAATACTGGACTGTATTTT	0.403000													31	54					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718746	24718746	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24718746C>T	ENST00000206765.6	-	15	2350	c.2225_splice	c.e15-1	p.D743_splice	TGM1_ENST00000544573.1_Splice_Site_p.D301_splice	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	743					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCTCCAATGTCCCTGTGGGCA	0.597000													12	10					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963334	54963334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54963334G>A	ENST00000326764.5	+	3	582	c.103G>A	c.(103-105)Gag>Aag	p.E35K	LENG8_ENST00000376514.2_Missense_Mutation_p.E35K	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	35							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCCGATGCACGAGAACCCGGA	0.622000													58	70					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	G	A	rs140564139		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95815453G>A	ENST00000295208.2	-	5	1239	c.777C>T	c.(775-777)ccC>ccT	p.P259P	ZNF514_ENST00000411425.1_Silent_p.P259P	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418000													34	74					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99083332	99083332	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:99083332C>T	ENST00000376586.2	+	18	2277	c.1941C>T	c.(1939-1941)gcC>gcT	p.A647A	FARP1_ENST00000595437.1_Silent_p.A647A|FARP1_ENST00000319562.6_Silent_p.A647A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	647	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAGCGAGGCCTTGGAGGCCC	0.587000													36	17					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744602	50744602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:50744602G>A	ENST00000300589.2	+	4	885	c.780G>A	c.(778-780)tgG>tgA	p.W260*	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	260					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGGAGGTCTGGGCAGATGTGG	0.607000													9	22					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739327	38739327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38739327C>T	ENST00000449082.2	-	27	5383	c.5384G>A	c.(5383-5385)gGa>gAa	p.G1795E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1795					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)	GATCTTATCTCCAGGGACCAA	0.483000													26	44					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932100	83932100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83932100C>A	ENST00000345382.2	-	4	1988	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	BNC1_ENST00000569704.1_Nonsense_Mutation_p.E628*|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	635					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGCTCAGTCTCCCTCTCTGAA	0.542000													37	90					2.95478e-19	3.00479e-19	1	1	0
CNR2	1269	broad.mit.edu	37	1	24201692	24201692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:24201692G>A	ENST00000536471.1	-	3	674	c.416C>T	c.(415-417)cCt>cTt	p.P139L	CNR2_ENST00000374472.4_Missense_Mutation_p.P139L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	139					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TTTGTAGGAAGGTGGATAGCG	0.582000													51	73					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34207622	34207622	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34207622A>T	ENST00000374273.3	+	10	1143	c.1031A>T	c.(1030-1032)gAg>gTg	p.E344V		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	344	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCAGCGTGGAGCACACCGGA	0.637000													32	73					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22931948	22931948	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:22931948C>T	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							ACCAAACCATCCGTTTTTGTC	0.383000													8	5					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89884766	89884766	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:89884766T>C	ENST00000389297.4	+	2	401	c.150T>C	c.(148-150)cgT>cgC	p.R50R	C7orf63_ENST00000497910.1_Silent_p.R50R|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Silent_p.R50R	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	50							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACCTTAATCGTGTCATCAAAC	0.333000													108	115					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926730	1926730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:1926730C>T	ENST00000399161.2	-	10	1558	c.811G>A	c.(811-813)Gga>Aga	p.G271R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G271R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	271					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)		ACACCGTGTCCTTGGGCTAAT	0.413000													59	98					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67434405	67434405	+	Translation_Start_Site	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67434405A>C	ENST00000349015.3	-	3	440	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ALDH3B2_ENST00000531881.1_5'UTR|ALDH3B2_ENST00000530069.1_Start_Codon_SNP_p.M1R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	1					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTCATCCTTCATCCAGGCCTG	0.617000													23	48					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117784497	117784497	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117784497G>A	ENST00000528626.1	-	4	772	c.699C>T	c.(697-699)ttC>ttT	p.F233F	TMPRSS13_ENST00000445164.2_Silent_p.F268F|TMPRSS13_ENST00000430170.2_Silent_p.F268F|TMPRSS13_ENST00000524993.1_Silent_p.F268F|TMPRSS13_ENST00000526090.1_Silent_p.F268F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	263	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTTACCTCTCGAAACCCAGCT	0.502000													20	62					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96249154	96249154	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:96249154C>T	ENST00000437043.3	+	17	3361	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L839L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	884					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GACCCATCTTCTGAAAAAGTT	0.413000													4	27					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456036	16456036	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16456036G>A	ENST00000358432.5	-	16	2872	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	906	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACACCGTGCGGAAGGGCACCC	0.637000													36	56					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365639	67365639	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:67365639G>A	ENST00000382713.5	+	5	599		c.e5-1		DOK6_ENST00000584435.1_Splice_Site	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6								insulin receptor binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCTTCACAGAGAGATTCAA	0.388000													29	46					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264412	46264412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:46264412C>T	ENST00000372004.3	+	11	1675	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	NCOA3_ENST00000371997.3_Missense_Mutation_p.R497C|NCOA3_ENST00000371998.3_Missense_Mutation_p.R487C|NCOA3_ENST00000341724.6_Missense_Mutation_p.R497C	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	487					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						TCCTCGTAATCGTGGGAGTCC	0.413000													57	99					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73326541	73326541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73326541G>A	ENST00000224721.6	+	6	492	c.487G>A	c.(487-489)Gac>Aac	p.D163N	CDH23_ENST00000461841.3_Missense_Mutation_p.D203N|CDH23_ENST00000398809.4_Missense_Mutation_p.D158N|CDH23_ENST00000398842.3_Missense_Mutation_p.D158N|CDH23_ENST00000299366.7_Missense_Mutation_p.D203N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	158	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAATGCCACAGACCCCGACTT	0.612000													18	34					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728070	50728070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:50728070G>A	ENST00000449103.1	-	3	1084	c.944C>T	c.(943-945)cCg>cTg	p.P315L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P315L			O15031	PLXB2_HUMAN	plexin B2	315	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGTCCAGCGGGAACAGGCA	0.657000													29	80					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309289	43309289	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:43309289A>G	ENST00000380486.3	-	14	2276	c.2035T>C	c.(2035-2037)Tcc>Ccc	p.S679P	C2CD2_ENST00000329623.7_Missense_Mutation_p.S524P	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	679				S -> P (in Ref. 2; CAH10536).		cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTGTGCCTGGAGAGCAGCTTC	0.572000													13	38					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20201469	20201469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:20201469C>T	ENST00000400331.5	-	4	325	c.17G>A	c.(16-18)aGa>aAa	p.R6K	MACC1_ENST00000589011.1_Missense_Mutation_p.R6K|MACC1_ENST00000332878.4_Missense_Mutation_p.R6K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	6					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.R6I(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAAATGTTTTCTTTCAGTGAT	0.333000													31	71					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194390	57194390	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57194390G>A	ENST00000331162.4	-	3	345	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCCAGAGAGAATTCTATAG	0.443000													17	63					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55949720	55949720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:55949720G>A	ENST00000395841.2	+	11	1303	c.883G>A	c.(883-885)Ggt>Agt	p.G295S	RAE1_ENST00000395840.2_Missense_Mutation_p.G295S|RAE1_ENST00000371242.2_Missense_Mutation_p.G295S|RAE1_ENST00000527947.1_Missense_Mutation_p.G295S	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	295					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGGATCTGATGGTAGATTCAG	0.468000													76	191					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67697082	67697082	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67697082G>A	ENST00000243878.4	-	7	1344	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1																		CCATCTTCACGAAGACTTTGG	0.592000													13	41					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226173191	226173191	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:226173191A>G	ENST00000272091.7	-	7	1186	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L	SDE2_ENST00000366817.1_Missense_Mutation_p.F295L	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		ACAGAGGTGAACGCCAATAAA	0.428000													36	68					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242404	126242404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:126242404C>T	ENST00000394329.3	+	1	4851	c.4838C>T	c.(4837-4839)tCg>tTg	p.S1613L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1613	Cadherin 15.				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						AGGAGGAAATCGACCACTGAA	0.443000													32	92					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347604	140347604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140347604C>T	ENST00000289269.5	+	1	1785	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		418	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGAAACTCCTATACACTG	0.582000													14	99					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221912312	221912312	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:221912312G>A	ENST00000366899.3	-	2	1013	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	259	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCTCTCTTCAGGGACTCGAGG	0.483000													70	131					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140656	123140656	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:123140656T>C	ENST00000264501.4	+	21	2782	c.2409T>C	c.(2407-2409)ctT>ctC	p.L803L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.L803L|KIAA1109_ENST00000455637.1_Silent_p.L803L			Q2LD37	K1109_HUMAN	KIAA1109	803					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCATCCACTTGCCTTGCGTC	0.403000													49	70					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133665	47133665	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:47133665G>A	ENST00000422732.2	-	0	435					NR_033957.1																						cattcccactgaaaccacctc	0.517000													10	102					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384777	108384777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:108384777C>T	ENST00000265843.4	-	6	1567	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	EXPH5_ENST00000525344.1_Missense_Mutation_p.G479E|EXPH5_ENST00000443411.1_Missense_Mutation_p.G298E|EXPH5_ENST00000428840.1_Missense_Mutation_p.G410E|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	486					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAAGAATGTCCTTTCTCTTG	0.423000													25	64					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900743	151900743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151900743C>T	ENST00000393900.3	-	3	411	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MAGEA12_ENST00000357916.4_Missense_Mutation_p.G20R|MAGEA12_ENST00000393869.3_Missense_Mutation_p.G20R|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	20										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCTCTCCTTGGGCCTCA	0.622000													34	14					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471374	146471374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:146471374G>A	ENST00000361727.3	+	2	625	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	37	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAATGTGATGAGCCACTTGT	0.443000										HNSCC(39;0.1)			10	43					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	C	T	rs142287236	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	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													72	105					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725369	38725369	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:38725369C>T	ENST00000409072.3	-	2	1171	c.237G>A	c.(235-237)acG>acA	p.T79T						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GGTACTTCTTCGTTGGCCCCT	0.542000													41	65					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183082	102183082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:102183082G>A	ENST00000306176.1	+	7	896	c.796G>A	c.(796-798)Gat>Aat	p.D266N	ZPLD1_ENST00000491959.1_Missense_Mutation_p.D250N|ZPLD1_ENST00000466937.1_Missense_Mutation_p.D250N	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	250	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATTCGATATGATCTTTTCCT	0.318000													35	74					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834651	21834651	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21834651G>A	ENST00000216297.2	-	8	1331	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	331					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTAACCACGTCCATGACAG	0.353000													17	162					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395790	101395790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:101395790G>A	ENST00000372774.3	-	3	763	c.514C>T	c.(514-516)Cca>Tca	p.P172S	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P172S	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TGGGCGAATGGATCCTGTACA	0.502000													17	2					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983358	179983358	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:179983358C>T	ENST00000367607.3	+	10	2188	c.1770C>T	c.(1768-1770)caC>caT	p.H590H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	590						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAGGCGCCACTATGACACAG	0.448000													6	12					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27605022	27605022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:27605022G>A	ENST00000344034.4	-	9	1669	c.1405C>T	c.(1405-1407)Ctt>Ttt	p.L469F	PPM1G_ENST00000350803.4_Missense_Mutation_p.L469F	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	469					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AATAACCGAAGCTCCCCATTT	0.473000													26	81					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146998	111146998	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111146998T>C	ENST00000485317.1	-	3	1080	c.407A>G	c.(406-408)gAa>gGa	p.E136G	KCNA2_ENST00000316361.4_Missense_Mutation_p.E136G|KCNA2_ENST00000440270.1_Missense_Mutation_p.E136G|KCNA2_ENST00000369770.3_Missense_Mutation_p.E136G|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	136						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AGGACGCTCTTCCTCCTTGAT	0.453000													20	35					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:24601303G>A	ENST00000378214.3	-	2	553	c.29C>T	c.(28-30)tCa>tTa	p.S10L	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S10L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S10L|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532000													71	132					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26092868	26092868	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:26092868G>A	ENST00000470149.1	+	4	697	c.649_splice	c.e4+1	p.K216_splice	HFE_ENST00000317896.7_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000357618.5_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000461397.1_Intron|HFE_ENST00000397022.3_Intron|HFE_ENST00000309234.6_Intron|HFE_ENST00000336625.8_Intron			Q30201	HFE_HUMAN	hemochromatosis	219	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTGGCAAGGGTAAACAGA	0.463000									Hemochromatosis				49	79					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128400001	128400001	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128400001T>C	ENST00000368227.3	-	11	2206	c.1840A>G	c.(1840-1842)Act>Gct	p.T614A	PTPRK_ENST00000368207.3_Missense_Mutation_p.T614A|PTPRK_ENST00000368210.3_Missense_Mutation_p.T614A|PTPRK_ENST00000368226.4_Missense_Mutation_p.T614A|PTPRK_ENST00000368215.3_Missense_Mutation_p.T614A|PTPRK_ENST00000368213.5_Missense_Mutation_p.T614A|PTPRK_ENST00000532331.1_Missense_Mutation_p.T614A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	614	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AACAATACAGTTATTGTGGTG	0.408000													35	93					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030147	18030147	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:18030147C>T	ENST00000205890.5	+	6	4247	c.3909C>T	c.(3907-3909)ctC>ctT	p.L1303L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1303	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAAAATGCTCGATGCCAAAC	0.552000													122	77					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584759	57584759	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57584759C>T	ENST00000243077.3	+	43	7669	c.7203C>T	c.(7201-7203)atC>atT	p.I2401I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2401					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACAAGATCGAGCGGTGCG	0.642000													16	42					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448862	27448862	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27448862G>T	ENST00000337929.3	+	4	679	c.206G>T	c.(205-207)aGg>aTg	p.R69M	IL21R_ENST00000395754.4_Missense_Mutation_p.R69M|IL21R_ENST00000395755.1_Missense_Mutation_p.R69M|IL21R_ENST00000564089.1_Missense_Mutation_p.R69M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	69					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCTCCACAGGTCGGCCCAC	0.572000			T	BCL6	NHL								39	57					1.52319e-26	1.55828e-26	1	1	0
NNAT	4826	broad.mit.edu	37	20	36150759	36150759	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36150759G>A	ENST00000062104.2	+	2	189		c.e2-1		NNAT_ENST00000346199.2_Intron|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397135.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin						brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				TTTCCTTCAAGGTGTTCCTGG	0.458000													20	47					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16461641	16461641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16461641G>A	ENST00000358432.5	-	7	1626	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	491	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGGGTCACGGAGAAACCCTC	0.687000													72	168					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035851	145035851	+	Missense_Mutation	SNP	C	C	T	rs149908820	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145035851C>T	ENST00000360771.4	-	6	542	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GYPA_ENST00000512789.1_Missense_Mutation_p.E78K|GYPA_ENST00000535709.1_Missense_Mutation_p.E117K|GYPA_ENST00000324022.10_Missense_Mutation_p.E110K|GYPA_ENST00000503627.1_Missense_Mutation_p.E98K|GYPA_ENST00000504786.1_Missense_Mutation_p.E111K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.E130K|RP11-673E1.4_ENST00000506982.1_RNA	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	143					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					CCTGGATTTTCTATTTCAACA	0.363000													14	27					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154832805	154832805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:154832805G>A	ENST00000460393.1	+	4	339	c.219G>A	c.(217-219)atG>atA	p.M73I	MME_ENST00000492661.1_Missense_Mutation_p.M73I|MME_ENST00000493237.1_Missense_Mutation_p.M73I|MME_ENST00000462745.1_Missense_Mutation_p.M73I|MME_ENST00000360490.2_Missense_Mutation_p.M73I|MME_ENST00000477669.1_3'UTR	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	73					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAAAACATGGATGCCACCA	0.438000													71	46					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012301	135012301	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135012301C>T	ENST00000304613.3	+	14	2310	c.2289C>T	c.(2287-2289)ccC>ccT	p.P763P	KNDC1_ENST00000368571.2_Silent_p.P698P|KNDC1_ENST00000368572.2_Silent_p.P763P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	763	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCCTCCACCCCAGGCCCCAG	0.731000													4	15					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42341668	42341668	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42341668C>T	ENST00000217026.4	+	12	1873	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	MYBL2_ENST00000396863.4_Silent_p.V558V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	582						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAAGAAAGTCCGGAAGTCTC	0.542000													12	17					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699566	149699566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:149699566C>T	ENST00000367456.1	+	4	1092	c.515C>T	c.(514-516)cCc>cTc	p.P172L	TAB2_ENST00000392282.1_Missense_Mutation_p.P172L|TAB2_ENST00000536230.1_Missense_Mutation_p.P140L|TAB2_ENST00000538427.1_Missense_Mutation_p.P172L|TAB2_ENST00000286332.5_Missense_Mutation_p.P172L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	172					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAACAAACTCCCAGATTTAAT	0.423000													23	52					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610545	8610545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8610545C>T	ENST00000338257.8	-	13	1612	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	449	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCTTGTTTTCGATGAGGTCA	0.572000													189	197					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149075	103149075	+	Silent	SNP	G	G	A	rs145203765		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:103149075G>A	ENST00000295269.4	+	12	2782	c.2325G>A	c.(2323-2325)tcG>tcA	p.S775S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	775					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						AGGTTCGGTCGAGGTGGACAG	0.522000													12	15					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368395	111368395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:111368395C>T	ENST00000428084.1	-	53	6135	c.5863G>A	c.(5863-5865)Ggg>Agg	p.G1955R	DOCK4_ENST00000494651.2_Missense_Mutation_p.G829R|DOCK4_ENST00000437633.1_Missense_Mutation_p.G1946R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1946	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCCGGGCCCCATTCTCCAGG	0.667000													19	34					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050926	45050926	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:45050926G>A	ENST00000558173.1	+	2	4820	c.75G>A	c.(73-75)ggG>ggA	p.G25G	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Silent_p.G229G|TRIM69_ENST00000560442.1_Silent_p.G25G|TRIM69_ENST00000559390.1_Silent_p.G229G|TRIM69_ENST00000558329.1_Silent_p.G25G|TRIM69_ENST00000338264.4_Silent_p.G70G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	229	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGAAGAGGGGAAAGCCTTGA	0.473000													26	34					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110734506	110734506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:110734506G>A	ENST00000368924.3	-	2	259	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	DDO_ENST00000368923.3_Missense_Mutation_p.H82Y|DDO_ENST00000368925.1_Missense_Mutation_p.H54Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	54					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGATAAGTGTGAGGAATAAGC	0.443000													45	79					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364265	103364265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:103364265C>T	ENST00000358392.2	-	56	4558	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1363E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1402E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1286E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1402	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGCTTTCCTGCAGGTCC	0.463000													30	50					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183210300	183210300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:183210300C>T	ENST00000341319.3	-	6	1581	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	516										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)			TAGATGCGGTCCCGGAAACTC	0.522000													51	26					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572391	120572391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:120572391G>A	ENST00000300648.6	-	52	7160	c.7148C>T	c.(7147-7149)cCc>cTc	p.P2383L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2383					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTGAAGAGGGGGTCCACCTT	0.627000													52	68					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197594822	197594822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197594822G>A	ENST00000389175.4	+	25	3097	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CCDC150_ENST00000409270.1_Missense_Mutation_p.E475K|CCDC150_ENST00000272831.7_Missense_Mutation_p.E635K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	988										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AATAAGGCAGGAGCTAGAGAA	0.458000													9	23					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510502	142510502	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142510502G>A	ENST00000417977.2	-	0	215																											CAGAGAGAGCGGGCTGCCCAC	0.572000													9	17					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50152983	50152983	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50152983C>T	ENST00000347869.3	+	21	2137	c.1962C>T	c.(1960-1962)cgC>cgT	p.R654R		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	654	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)		TCTGCCGGCGCCAGTTCCCGA	0.572000													61	84					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630259	203630259	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:203630259C>T	ENST00000303116.6	+	8	1552	c.810C>T	c.(808-810)ctC>ctT	p.L270L	FAM117B_ENST00000392238.2_Silent_p.L514L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	514										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTTTCTGCCTCGTCAGCATCC	0.493000													51	123					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619584	206619584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:206619584C>T	ENST00000414007.1	+	14	1618	c.1618C>T	c.(1618-1620)Cca>Tca	p.P540S	SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	680	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GAACATCTTCCCAAGCCCCAG	0.582000													92	160					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000408	219000408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219000408C>T	ENST00000318507.2	+	3	1311	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATCGACCGGGCTCTGGATGCC	0.587000													31	43					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:73787510G>A	ENST00000342056.2	+	5	1216	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					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)		TGGTACATAGGATTTTTGGTT	0.348000													10	31					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67701251	67701251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:67701251C>T	ENST00000545606.1	+	11	3441	c.3004C>T	c.(3004-3006)Cca>Tca	p.P1002S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1002					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCTATTGATCCACTGTTAAA	0.348000													9	21					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78323704	78323704	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78323704C>T	ENST00000582970.1	+	30	10229	c.10086C>T	c.(10084-10086)gtC>gtT	p.V3362V	RNF213_ENST00000336301.6_Silent_p.V1435V|RNF213_ENST00000508628.2_Silent_p.V3411V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAAAGAAGTCCGGTGAGGTT	0.592000													39	44					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814182	123814182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123814182G>A	ENST00000321252.2	-	1	398	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527000													9	21					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153579321	153579321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153579321G>A	ENST00000422373.1	-	43	7336	c.7088C>T	c.(7087-7089)cCc>cTc	p.P2363L	FLNA_ENST00000360319.4_Missense_Mutation_p.P2363L|FLNA_ENST00000344736.4_Missense_Mutation_p.P2331L|FLNA_ENST00000369850.3_Missense_Mutation_p.P2371L|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369856.3_Missense_Mutation_p.P504L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2371					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCTGAGGGGCTGTGCAC	0.627000													117	26					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346543	71346543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71346543G>A	ENST00000413702.1	+	4	370	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	MUC7_ENST00000456088.1_Missense_Mutation_p.E28K|MUC7_ENST00000304887.5_Missense_Mutation_p.E28K|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	28						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAGGGATCATGAACTACGTCA	0.398000													31	99					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937258	105937258	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105937258T>G	ENST00000324342.3	+	1	191	c.26T>G	c.(25-27)tTt>tGt	p.F9C		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGGTCCAGTTTTTTTTGGCTC	0.343000													21	8					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895747	56895747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56895747C>T	ENST00000301310.4	-	5	1197	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	ZNF582_ENST00000586929.1_Missense_Mutation_p.A347T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGATTAAAAGCCTTCCCACAT	0.418000													48	67					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170072476	170072476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:170072476C>T	ENST00000333572.6	-	3	725	c.206G>A	c.(205-207)gGa>gAa	p.G69E	WDR27_ENST00000420344.2_Missense_Mutation_p.G69E|WDR27_ENST00000423258.1_Missense_Mutation_p.G69E|WDR27_ENST00000448612.1_Missense_Mutation_p.G69E			A2RRH5	WDR27_HUMAN	WD repeat domain 27	69										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGATGGTGTCCTCGTAGGAT	0.343000													7	9					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857430	38857430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:38857430G>A	ENST00000310301.4	-	7	491	c.437C>T	c.(436-438)aCc>aTc	p.T146I	VPS41_ENST00000395969.2_Missense_Mutation_p.T121I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	146			T -> P (in dbSNP:rs35693565).		Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTCCCTCCGGTCACAAACTG	0.438000													52	96					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780365	68780365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:68780365C>T	ENST00000508048.1	-	9	1068	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D346N|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.D349N|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	349	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.D349H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383000													27	106					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118598005	118598005	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:118598005G>A	ENST00000392533.3	-	19	2788	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	TAOK3_ENST00000537952.1_Silent_p.A306A|TAOK3_ENST00000419821.2_Silent_p.A766A|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	766					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAAAATGGCAAGTTTTC	0.418000													48	106					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41059602	41059602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41059602C>T	ENST00000253801.2	+	3	482	c.403C>T	c.(403-405)Ctt>Ttt	p.L135F	G6PC_ENST00000592383.1_Intron|G6PC_ENST00000585489.1_Missense_Mutation_p.L135F	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	135					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CACATCTACTCTTTCCATCTT	0.512000													36	51					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083878	152083878	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152083878C>T	ENST00000368804.1	-	2	1814	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	605	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)			TCTCCACCTCCTCGCGCTTCA	0.677000													40	94					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073770	90073770	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:90073770G>A	ENST00000405460.2	+	62	12672	c.12576G>A	c.(12574-12576)agG>agA	p.R4192R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4192					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)		TGTTCTGGAGGATATTCCCTC	0.423000													13	11					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81624960	81624960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81624960C>T	ENST00000558726.1	-	22	3241	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E1035K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	1035						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGGATGGCTCGAACCTGGGC	0.612000													15	40					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526232	35526232	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:35526232T>G	ENST00000262878.4	-	15	1938	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	580					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TACCTGCGGCTTGGTGAAATT	0.383000													33	92					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487162	36487162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:36487162C>T	ENST00000342292.4	-	11	2310	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	764						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)				GCTGGTGTCCCCTCGGGTTCC	0.682000													3	8					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607229	42607229	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:42607229G>A	ENST00000359486.3	-	1	4219	c.4083C>T	c.(4081-4083)tcC>tcT	p.S1361S	TCF20_ENST00000335626.4_Silent_p.S1361S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAATATTTGGGGATGTAATCT	0.502000													25	49					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086509	44086509	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:44086509G>A	ENST00000359947.4	+	32	5705	c.5364_splice	c.e32-1	p.D1789_splice	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Splice_Site_p.D1780_splice|PTPRF_ENST00000372413.3_Splice_Site_p.D1780_splice|PTPRF_ENST00000372414.3_Splice_Site_p.D1789_splice|PTPRF_ENST00000422171.2_Splice_Site_p.D1148_splice	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1789	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTTTCCCAGGATGGGCAGTC	0.557000													21	51					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480250	73480250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:73480250G>A	ENST00000523207.1	+	2	869	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	94					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGGCATCCAGGAGCCTTCACT	0.478000													44	60					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33503559	33503559	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33503559C>T	ENST00000254260.3	-	5	497	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RHPN2_ENST00000400226.4_Silent_p.L3L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	154	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTACTTGTCTCAGATCCATAA	0.408000													44	37					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498921	61498921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:61498921C>T	ENST00000424789.2	+	25	5582	c.5578C>T	c.(5578-5580)Cac>Tac	p.H1860Y	TANC2_ENST00000389520.4_Missense_Mutation_p.H1870Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1860							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGTACCCCCACCTCCACCA	0.582000													53	177					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641336	29641336	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29641336G>A	ENST00000376883.1	-	6	903	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ZFP57_ENST00000488757.1_Silent_p.F184F|ZFP57_ENST00000376881.3_Silent_p.F164F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	100					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AGCGCCTGCTGAAACATTTGC	0.562000													35	59					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23657659	23657659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:23657659C>T	ENST00000305877.8	+	23	4517	c.3766C>T	c.(3766-3768)Cct>Tct	p.P1256S	BCR_ENST00000359540.3_Missense_Mutation_p.P1212S|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1256					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GGAGGCCATCCCTGCCCCGGA	0.617000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								31	78					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500364	152500364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152500364G>A	ENST00000427231.2	-	57	8126	c.7924C>T	c.(7924-7926)Cat>Tat	p.H2642Y	NEB_ENST00000409198.1_Missense_Mutation_p.H2642Y|NEB_ENST00000172853.10_Missense_Mutation_p.H2642Y|NEB_ENST00000603639.1_Missense_Mutation_p.H2642Y|NEB_ENST00000604864.1_Missense_Mutation_p.H2642Y|NEB_ENST00000397345.3_Missense_Mutation_p.H2642Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2642					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCCGAGCATGGATGACATCG	0.502000													69	187					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76488726	76488726	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:76488726G>A	ENST00000556742.1	+	3	207	c.204G>A	c.(202-204)gtG>gtA	p.V68V	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000314067.6_Silent_p.V68V|IFT43_ENST00000238628.6_Silent_p.V68V	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	68					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGATTCCGTGAAGGCTTCGA	0.478000													8	179					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35108537	35108537	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35108537C>T	ENST00000311875.5	-	2	567	c.150G>A	c.(148-150)gaG>gaA	p.E50E	TCP11_ENST00000512012.1_Silent_p.E37E|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000444780.2_Silent_p.E50E|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000412155.2_Intron			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	37					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGGGGGGTCCTCGGAGCCGC	0.652000													15	24					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409647	130409647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:130409647C>T	ENST00000370904.1	-	22	3872	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R	IGSF1_ENST00000370910.1_Missense_Mutation_p.G988R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G997R|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1002R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	997	Ig-like C2-type 10.				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						TATCCTACTCCATGGACCGGC	0.517000													74	36					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480031	142480031	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142480031G>A	ENST00000603901.1	+	0	163					NR_001296.3																						CCTCATCAGCGAACAGTGGGT	0.577000													29	239					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107705000	107705000	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:107705000C>T	ENST00000445937.1	+	7	831	c.570C>T	c.(568-570)ttC>ttT	p.F190F	OXR1_ENST00000497705.1_Silent_p.F123F|OXR1_ENST00000531443.1_Silent_p.F190F|OXR1_ENST00000442977.2_Silent_p.F191F|OXR1_ENST00000517566.2_Silent_p.F190F|OXR1_ENST00000312046.6_Silent_p.F183F|OXR1_ENST00000452423.2_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	191					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.F191L(1)|p.F102L(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CATCTACTTTCACTGGTATTC	0.323000													29	33					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404129	404129	+	Missense_Mutation	SNP	G	G	A	rs79659860	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:404129G>A	ENST00000331563.2	+	11	2340	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	755					cell adhesion	desmosome|nucleus	binding	p.R755L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAAGAAGCGGGACAGGTAG	0.612000													19	64					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69500629	69500629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:69500629G>A	ENST00000374495.3	+	15	1125	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ARR3_ENST00000307959.8_Missense_Mutation_p.E343K			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	343					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TGTTGGTGTGGAGCTACCCTT	0.547000													49	18					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132000	59132000	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:59132000G>A	ENST00000313940.2	+	1	116	c.69G>A	c.(67-69)agG>agA	p.R23R		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATTTTCCCAGGATCATAAAAG	0.433000													11	46					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943807	1943807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:1943807G>A	ENST00000543818.1	+	5	1875	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.E345K|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.E345K|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	345						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTACCACCGGGAGCTCAAAAA	0.647000													25	56					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436307	50436307	+	Silent	SNP	C	C	T	rs141235467		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50436307C>T	ENST00000423777.2	+	3	1184	c.807C>T	c.(805-807)atC>atT	p.I269I	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.I269I	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	269					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I269I(1)		NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACCTGCTCATCGAGGTTTACA	0.642000													25	14					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410272	45410272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:45410272G>A	ENST00000332700.6	-	4	988	c.817C>T	c.(817-819)Cct>Tct	p.P273S		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CATGGAGAAGGGAAACCCAGA	0.488000													44	118					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799041	212799041	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212799041G>A	ENST00000294829.3	+	1	1253	c.822G>A	c.(820-822)ggG>ggA	p.G274G	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	274										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAACAGGGGGGATTAAAGAGg	0.557000													29	54					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55136144G>A	ENST00000314706.3	+	1	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000													25	60					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662177	57662177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57662177G>A	ENST00000402412.1	-	18	2329	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	R3HDM2_ENST00000393811.2_Missense_Mutation_p.P360S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P360S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P328S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P667S|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P633S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P633S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	633	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGCTCACAGGGACCAGCATG	0.557000													43	84					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676865	137676865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137676865G>A	ENST00000371817.3	+	30	2929	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	839	Triple-helical 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)		TCCCAGGGGAGAAGATGGCCC	0.622000													25	29					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207641903	207641903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207641903G>A	ENST00000367057.3	+	3	666	c.477G>A	c.(475-477)atG>atA	p.M159I	CR2_ENST00000367059.3_Missense_Mutation_p.M159I|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.M159I|CR2_ENST00000458541.2_Missense_Mutation_p.M159I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	159	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACTTCCTATGATCCACAATG	0.443000													29	43					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397556	13397556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:13397556G>A	ENST00000360228.5	-	20	3313	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1106L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1106			G -> S (in dbSNP:rs16027).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCCAGCATGGGGCCGGGGTC	0.726000													11	12					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576730	67576730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:67576730G>A	ENST00000310421.4	-	1	2722	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTTTAGGAGGAAACCCGTAT	0.388000													61	87					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315490	125315490	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:125315490G>A	ENST00000373688.2	+	1	100	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	14					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						AACTACAAGGGATGGGAAAAC	0.448000													37	27					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627728	234627728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234627728G>A	ENST00000373409.3	+	1	305	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GACCCAGAAGGAATTTGATCG	0.453000													22	41					0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864506	102864506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102864506C>T	ENST00000372628.1	+	3	872	c.514C>T	c.(514-516)Cca>Tca	p.P172S	TCEAL3_ENST00000372627.5_Missense_Mutation_p.P172S|TCEAL3_ENST00000243286.3_Missense_Mutation_p.P172S|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TGTACAGGATCCATTCGCCCC	0.512000													50	194					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139862184	139862184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:139862184G>A	ENST00000297183.6	+	11	1926	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G601E|ANKHD1_ENST00000360839.2_Missense_Mutation_p.G601E	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGGTGGAAGAACACCT	0.368000													7	64					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314235	54314235	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54314235C>A	ENST00000324134.6	-	3	846	c.678G>T	c.(676-678)ctG>ctT	p.L226L	NLRP12_ENST00000354278.3_Silent_p.L226L|NLRP12_ENST00000391775.3_Silent_p.L226L|NLRP12_ENST00000391773.1_Silent_p.L226L|NLRP12_ENST00000345770.5_Silent_p.L226L|NLRP12_ENST00000351894.4_Silent_p.L226L|NLRP12_ENST00000391772.1_Silent_p.L226L|NLRP12_ENST00000535162.1_Silent_p.L226L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTTGTGTGCCAGCATGGACT	0.577000													27	73					4.74835e-14	4.80322e-14	1	1	0
NISCH	11188	broad.mit.edu	37	3	52525995	52525995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52525995G>A	ENST00000345716.4	+	21	4146	c.4012G>A	c.(4012-4014)Gag>Aag	p.E1338K	NISCH_ENST00000479054.1_Missense_Mutation_p.E1338K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1338					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AAAGATGGCTGAGCCAGAGAA	0.622000													25	65					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060065	71060065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:71060065G>A	ENST00000410009.3	-	4	728	c.683C>T	c.(682-684)tCa>tTa	p.S228L		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	228	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGTCAGGTGTGAATTCCTGGA	0.527000													25	59					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17314703	17314703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:17314703G>A	ENST00000452699.1	-	25	2963	c.2774C>T	c.(2773-2775)tCg>tTg	p.S925L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.S886L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.S930L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	930					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GACGCTGAACGAAGTGTCAAG	0.607000													26	66					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420054	10420054	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10420054G>A	ENST00000397077.1	-	9	1523	c.948C>T	c.(946-948)ccC>ccT	p.P316P	ATP2B2_ENST00000383800.4_Silent_p.P316P|ATP2B2_ENST00000352432.4_Silent_p.P361P|ATP2B2_ENST00000343816.4_Silent_p.P347P|ATP2B2_ENST00000360273.2_Silent_p.P361P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	361					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACTCTTGAGGGGCTGCATCT	0.607000													35	79					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123834984	123834984	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:123834984A>C	ENST00000420886.2	-	1	4	c.5T>G	c.(4-6)gTg>gGg	p.V2G	SBNO1_ENST00000602750.1_Missense_Mutation_p.V2G|SBNO1_ENST00000602398.1_Missense_Mutation_p.V2G|SBNO1_ENST00000267176.4_Missense_Mutation_p.V2G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	2							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCTGGCTCCACCATCTTTAA	0.363000													103	189					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3144438	3144438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:3144438C>T	ENST00000446632.2	-	4	723	c.149G>A	c.(148-150)tGg>tAg	p.W50*	IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W50*|IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000418488.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W50*|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000445864.2_Nonsense_Mutation_p.W50*	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATTTGGTTTCCATTGTAAAAG	0.338000													23	28					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248558	94248558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:94248558C>T	ENST00000515393.1	-	9	1473	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	MCTP1_ENST00000429576.2_Missense_Mutation_p.D225N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D271N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D271N|MCTP1_ENST00000505078.1_Missense_Mutation_p.D8N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	492	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACGTAGGGATCGCTCAACCCG	0.468000													41	45					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567446	5567446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:5567446G>A	ENST00000315238.1	+	1	523	c.398G>A	c.(397-399)gGa>gAa	p.G133E	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	133	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GACACGGACGGAGACGGACAG	0.672000													16	29					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52632527	52632527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52632527G>A	ENST00000331817.5	+	4	844	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	221	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCTGAATGATGAGATCAACTT	0.562000													47	112					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131663	130131663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130131663G>A	ENST00000525842.1	-	2	473	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	ZBTB44_ENST00000357899.4_Missense_Mutation_p.R36C|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R36C|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R36C	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	36	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCCTGGACACGAATAGTGATA	0.438000													37	100					0	0	1	0	0
MIR520B	574473	broad.mit.edu	37	19	54204520	54204520	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54204520G>A	ENST00000384989.1	+	0	40					NR_030195.1																						TGAAAGAAAAGAAAGTGCTTC	0.428000													14	31					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693496	42693496	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42693496A>G	ENST00000372999.1	+	7	1027	c.834_splice	c.e7+1	p.K278_splice	TOX2_ENST00000341197.3_Splice_Site_p.K320_splice|TOX2_ENST00000423191.1_Splice_Site_p.K278_splice|TOX2_ENST00000358131.5_Intron|TOX2_ENST00000435864.2_Splice_Site_p.K198_splice	NM_032883.2	NP_116272.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCGTCTCCAAGGTAACACCC	0.587000													48	69					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163917	49163917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49163917G>A	ENST00000418109.1	-	17	2196	c.2032C>T	c.(2032-2034)Cct>Tct	p.P678S	LAMB2_ENST00000305544.4_Missense_Mutation_p.P678S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	678	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGGATTAGGAAATATCAAG	0.577000													24	68					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176078637	176078637	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176078637G>A	ENST00000405525.2	+	2	337	c.108G>A	c.(106-108)ctG>ctA	p.L36L	TSPAN17_ENST00000508164.1_Silent_p.L36L|TSPAN17_ENST00000503045.1_Silent_p.L36L|TSPAN17_ENST00000515708.1_Silent_p.L36L|TSPAN17_ENST00000310032.8_Silent_p.L36L|TSPAN17_ENST00000298564.10_Intron	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	36						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGTTCCTGGCTATCGGCC	0.677000													8	10					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940091	36940091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36940091G>A	ENST00000454319.1	-	5	1182	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ZNF566_ENST00000424129.2_Missense_Mutation_p.R349C|ZNF566_ENST00000493391.1_Missense_Mutation_p.R245C|ZNF566_ENST00000434377.2_Missense_Mutation_p.R349C|ZNF566_ENST00000392170.2_Missense_Mutation_p.R350C	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGCCAGAACGAAAAGCCTTT	0.403000													27	32					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306903	129306903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:129306903G>A	ENST00000281437.4	+	2	541	c.445G>A	c.(445-447)Gag>Aag	p.E149K	BARX2_ENST00000526127.1_Missense_Mutation_p.E4K	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	149										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CATGGGCCTGGAGAAGAAATT	0.607000													9	12					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6171884	6171884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6171884C>T	ENST00000262450.3	-	36	5299	c.5200G>A	c.(5200-5202)Gac>Aac	p.D1734N	CHD5_ENST00000378021.1_Missense_Mutation_p.D591N	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1734					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCAGATGTCGTAGATTTTC	0.622000													42	61					0	0	1	0	0
POLR3G	10622	broad.mit.edu	37	5	89781431	89781431	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89781431T>C	ENST00000399107.1	+	2	247	c.47T>C	c.(46-48)aTt>aCt	p.I16T	POLR3G_ENST00000504930.1_Missense_Mutation_p.I16T|POLR3G_ENST00000514483.1_Missense_Mutation_p.I16T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	16					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-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;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		ACCTTTAATATTGAGGCTGTT	0.393000													34	48					0	0	1	0	0
TIMM22	29928	broad.mit.edu	37	17	902026	902026	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:902026C>T	ENST00000327158.3	+	2	272	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	82					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TAGGATTTGTCTTAGGAGGTG	0.473000													34	30					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241573	155241573	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155241573A>G	ENST00000357232.3	-	14	3612	c.3613T>C	c.(3613-3615)Tca>Cca	p.S1205P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1205	Cadherin 10.		S -> L (in dbSNP:rs11935573).		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)		TCATTTCCTGAGAGGATGCTG	0.398000													42	85					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79933406	79933406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79933406G>A	ENST00000360280.3	+	41	5472	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	VPS13A_ENST00000376634.4_Missense_Mutation_p.G1738S|VPS13A_ENST00000357409.5_Missense_Mutation_p.G1738S|VPS13A_ENST00000376636.3_Missense_Mutation_p.G1699S|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1738					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGCTGGAATTGGTCATAGAAC	0.393000													57	25					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8496277	8496277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:8496277C>T	ENST00000447869.1	-	1	1094	c.176G>A	c.(175-177)aGa>aAa	p.R59K	STK33_ENST00000315204.1_Missense_Mutation_p.R59K|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.R59K|STK33_ENST00000396673.1_Missense_Mutation_p.R59K|STK33_ENST00000534493.1_Missense_Mutation_p.R18K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	59						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTTTTTTTCTCTCCAGTGA	0.378000													12	19					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234148	84234148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:84234148G>A	ENST00000536636.1	+	3	1333	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	PRSS35_ENST00000369700.3_Missense_Mutation_p.E330K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	330	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.E330K(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGTGTCCGACGAATCCAATGA	0.478000													37	93					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453000													3	151					0	0	1	0	0
FAM115C	285966	broad.mit.edu	37	7	143421544	143421544	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143421544G>T	ENST00000441159.2	+	7	2325	c.2259G>T	c.(2257-2259)tgG>tgT	p.W753C	FAM115C_ENST00000409703.3_Missense_Mutation_p.W649C|FAM115C_ENST00000357344.4_Missense_Mutation_p.W753C|FAM115C_ENST00000411497.2_Missense_Mutation_p.W472C|FAM115C_ENST00000425618.2_Missense_Mutation_p.W472C|FAM115C_ENST00000411935.1_Missense_Mutation_p.W649C|FAM115C_ENST00000444908.2_Missense_Mutation_p.W753C			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	753										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GGGGTGTGTGGGGCCCCATCC	0.567000													3	41					0.115264	0.115452	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17464396	17464396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:17464396C>T	ENST00000302539.4	-	10	1626	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E501K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	501	ABC transmembrane type-1 1.		E -> K (in HHF1).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGAGCATCTCGTTGGTCTGC	0.622000													39	50					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:123369783G>A	ENST00000275162.4	+	4	1916	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R48Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000													41	99					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627876	26627876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:26627876C>T	ENST00000380573.3	-	3	2214	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*	ADRA1A_ENST00000380586.1_Nonsense_Mutation_p.W397*|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Nonsense_Mutation_p.W397*|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Nonsense_Mutation_p.W397*|ADRA1A_ENST00000354550.4_Nonsense_Mutation_p.W397*|ADRA1A_ENST00000276393.4_Nonsense_Mutation_p.W397*			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	397					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGAAAAATTTCCATTCACAAA	0.527000													41	110					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26107965	26107965	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:26107965G>A	ENST00000356865.6	-	1	390	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	93					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGCGCGATGAAGACAAAGT	0.627000													9	15					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019667	137019667	+	Missense_Mutation	SNP	G	G	A	rs145735047		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137019667G>A	ENST00000359015.4	-	4	1126	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	256					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.R256C(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAATAAAACGATCCACAAGA	0.408000													25	54					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727557	66727557	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:66727557C>T	ENST00000307102.5	+	2	804	c.273C>T	c.(271-273)ggC>ggT	p.G91G		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	91	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGCCTTCTGGCCTGGTCATGG	0.512000													72	113					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:160091024C>T	ENST00000361216.3	+	3	249	c.160C>T	c.(160-162)Caa>Taa	p.Q54*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.Q54*|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCAAATACCAAGTGGACCT	0.517000													109	242					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645571	38645571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38645571G>A	ENST00000413689.1	-	12	1715	c.1522C>T	c.(1522-1524)Cat>Tat	p.H508Y	SCN5A_ENST00000425664.1_Missense_Mutation_p.H508Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.H508Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.H508Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.H508Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	508					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)	AGGCTGAGATGATTCTAAGGG	0.557000													5	9					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	132						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)			CCTGGCCAAATCTCCCTGCCT	0.627000													3	8					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029589	93029589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:93029589G>A	ENST00000523629.1	-	3	545	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R31C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R4C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R4C|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R42C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	31		Breakpoint for translocation to form AML1-MTG8 in AML-M2.			generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCAGTACGATCTGGAGGA	0.448000													43	35					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40884017	40884017	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:40884017C>T	ENST00000409587.1	+	13	1807	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	PLD3_ENST00000409735.4_Silent_p.S470S|PLD3_ENST00000409419.1_Silent_p.S470S|PLD3_ENST00000409281.1_Silent_p.S470S|PLD3_ENST00000356508.5_Silent_p.S470S			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	470					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ACTGGGACTCCCCTTACAGCC	0.672000													46	166					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890549	23890549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23890549C>T	ENST00000532292.1	-	1	626	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCAAAGGTCTCCGGTGTGGCA	0.592000													27	37					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22746188	22746188	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:22746188G>A	ENST00000400546.1	+	9	1299	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	NCAM2_ENST00000284894.7_Silent_p.L208L|NCAM2_ENST00000535285.1_Silent_p.L375L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	350	Ig-like C2-type 4.		L -> P (in dbSNP:rs232518).		neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACAGAGCCTGGACGGCCGTA	0.408000													34	58					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147029951	147029951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:147029951G>A	ENST00000265272.5	-	4	1254	c.787C>T	c.(787-789)Cga>Tga	p.R263*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R263*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.R221*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	263						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)			GGAATTTCTCGTTTTGGGCTG	0.458000													13	58					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510780	4510780	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4510780T>C	ENST00000307632.3	+	1	672	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I217T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTTTGTTATCCTGTCTTAT	0.502000													60	143					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145851121	145851121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:145851121C>T	ENST00000296702.5	+	9	1621	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P507L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	528	WW 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTACTGCTCCTATTCCTGGT	0.428000													4	57					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145580011	145580011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145580011G>A	ENST00000331890.5	-	7	1238	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Missense_Mutation_p.R386C	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	392					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACAGCCACGAAGATCCAGT	0.657000													25	66					0	0	1	0	0
THAP10	56906	broad.mit.edu	37	15	71174914	71174914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:71174914C>T	ENST00000249861.4	-	3	1165	c.653G>A	c.(652-654)aGa>aAa	p.R218K	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	218							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGAGGAAGTTCTAGACCACAA	0.393000													35	64					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087359	207087359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207087359G>A	ENST00000367091.3	-	2	261	c.118C>T	c.(118-120)Cct>Tct	p.P40S	FAIM3_ENST00000420007.2_Missense_Mutation_p.P40S|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	40	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGCATTTCAGGAAGTGGGCAC	0.522000													104	146					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850153	38850153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38850153G>A	ENST00000409235.3	+	14	1655	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CATSPERG_ENST00000410018.1_Missense_Mutation_p.E474K|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	514					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTTCCCCAAGGAACTGTCCAT	0.587000													27	52					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321835	79321835	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79321835C>T	ENST00000428286.1	-	8	5478	c.4278G>A	c.(4276-4278)gaG>gaA	p.E1426E	PRUNE2_ENST00000376718.3_Silent_p.E1785E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1785					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGATCTCTTCTCCTTCTCCA	0.443000													12	12					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47452835	47452835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47452835G>A	ENST00000265562.4	+	20	3624	c.3547G>A	c.(3547-3549)Ggt>Agt	p.G1183S	PTPN23_ENST00000431726.1_Missense_Mutation_p.G1057S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1183					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCTTTCGGGGTCAGCTGGG	0.652000													14	34					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48990633	48990633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:48990633G>A	ENST00000226432.4	+	2	366	c.183G>A	c.(181-183)tgG>tgA	p.W61*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.W34*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	61					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCCTTTCTGGAAATTGGTTA	0.318000													13	22					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944578	55944578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55944578G>A	ENST00000312298.1	+	1	485	c.485G>A	c.(484-486)aGc>aAc	p.S162N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CACACAATCAGCTTGAGGAGA	0.438000													22	68					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569723	248569723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248569723C>T	ENST00000366474.1	+	1	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGGACCATTTCCTTTGTGGGG	0.473000													54	130					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411636	51411636	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:51411636T>A	ENST00000319760.6	-	1	812	c.760A>T	c.(760-762)Ata>Tta	p.I254L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTAACATATATGAAAATACAG	0.393000													9	54					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251218	171251218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171251218C>T	ENST00000354841.4	+	6	1060	c.929C>T	c.(928-930)tCt>tTt	p.S310F	FMO1_ENST00000402921.2_Missense_Mutation_p.S247F|FMO1_ENST00000367750.3_Missense_Mutation_p.S310F|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	310					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGGAAAACTCTGTCATATTT	0.418000													29	71					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54678032	54678032	+	Silent	SNP	G	G	A	rs148671781	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54678032G>A	ENST00000245615.1	-	8	1605	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	MBOAT7_ENST00000431666.2_Silent_p.A302A|MBOAT7_ENST00000338624.6_Silent_p.A302A	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	375					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCGGCCCTCGGCAGCCAGGC	0.687000													42	61					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918077	57918077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57918077C>T	ENST00000574161.1	+	5	631	c.512C>T	c.(511-513)tCc>tTc	p.S171F	GCOM1_ENST00000380568.3_Missense_Mutation_p.S171F|MYZAP_ENST00000267853.5_Missense_Mutation_p.S171F|MYZAP_ENST00000380565.4_Missense_Mutation_p.S171F|GCOM1_ENST00000396180.1_Missense_Mutation_p.S140F|GCOM1_ENST00000587652.1_Missense_Mutation_p.S171F|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.S171F|GCOM1_ENST00000572390.1_Missense_Mutation_p.S171F|GCOM1_ENST00000380561.2_Missense_Mutation_p.S140F	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		171					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCATCAGATTCCATTGGCCTG	0.483000													19	36					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737609	4737609	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4737609T>A	ENST00000545990.2	-	5	983	c.459A>T	c.(457-459)aaA>aaT	p.K153N	AKAP3_ENST00000228850.1_Missense_Mutation_p.K153N	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	153					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATAGACACATTTGTTTTCAG	0.453000													75	127					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104131471	104131471	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104131471C>T	ENST00000388887.2	+	53	5814	c.5610C>T	c.(5608-5610)gaC>gaT	p.D1870D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1870	FAS1 6.				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						TCTTGTTTGACCTGGGTGTGG	0.478000													42	78					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994513	8994513	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8994513G>A	ENST00000397910.4	-	64	41582	c.41379C>T	c.(41377-41379)ttC>ttT	p.F13793F	MUC16_ENST00000380951.5_Silent_p.F434F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13795	SEA 12.			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						AGTTGAGGGTGAATAGTATCA	0.448000													48	50					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932124	75932124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:75932124G>A	ENST00000314852.2	-	2	1329	c.386C>T	c.(385-387)gCc>gTc	p.A129V	IMP3_ENST00000403490.1_Missense_Mutation_p.A129V			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	129	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTCCACAAAGGCCACGGCAGC	0.662000													30	54					0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078632	241078632	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:241078632G>A	ENST00000391989.2	-	5	455	c.225C>T	c.(223-225)ccC>ccT	p.P75P	OTOS_ENST00000319460.1_Silent_p.P75P			Q8NHW6	OTOSP_HUMAN	otospiralin	75						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCTCCCCAGGGGGAAGTGGG	0.647000													29	59					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163042242	163042242	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:163042242A>G	ENST00000421743.2	+	3	553	c.393A>G	c.(391-393)gaA>gaG	p.E131E	RGS4_ENST00000531057.1_Silent_p.E34E|RGS4_ENST00000367906.3_Silent_p.E16E|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Silent_p.E34E|RGS4_ENST00000527809.1_Silent_p.E16E|RGS4_ENST00000367908.4_Silent_p.E34E	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	34	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						ATTCCTGTGAACACAATTCTT	0.373000													34	40					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112491380	112491380	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112491380A>G	ENST00000261745.4	-	15	1958	c.1710T>C	c.(1708-1710)ttT>ttC	p.F570F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	570						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGTTGGAGTGAAAAAACCTGA	0.418000													14	19					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487744	131487744	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:131487744C>T	ENST00000309926.4	+	1	1102	c.1020C>T	c.(1018-1020)caC>caT	p.H340H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	340						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)					CCAGGAGGCACCAGGCCATCT	0.522000													6	8					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158759	21158759	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:21158759C>T	ENST00000377122.4	-	6	888	c.492G>A	c.(490-492)agG>agA	p.R164R	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.R164R	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	164					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACGTCTTTCCTATAAGAAA	0.363000													22	44					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317281	141317281	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:141317281A>G	ENST00000325617.5	-	9	1403	c.963T>C	c.(961-963)ttT>ttC	p.F321F	CLGN_ENST00000537281.1_Silent_p.F321F|CLGN_ENST00000414773.1_Silent_p.F321F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	321					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATCAGGGATAAATTTTGGTT	0.358000													90	140					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895748	56895748	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56895748C>T	ENST00000301310.4	-	5	1196	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	ZNF582_ENST00000586929.1_Silent_p.K346K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATTAAAAGCCTTCCCACATT	0.418000													46	65					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892634	88892634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:88892634C>T	ENST00000556553.1	+	6	894	c.335C>T	c.(334-336)tCa>tTa	p.S112L	SPATA7_ENST00000356583.5_Missense_Mutation_p.S112L|SPATA7_ENST00000393545.4_Missense_Mutation_p.S144L|SPATA7_ENST00000045347.7_Missense_Mutation_p.S144L			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	144					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATGGATTTTCATCCTTTGCA	0.403000													4	34					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827961	52827961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52827961C>T	ENST00000252245.5	-	1	348	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCCCCACTCCCTGCTGCAGA	0.672000													40	66					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400951	89400951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:89400951G>A	ENST00000439576.2	+	12	5509	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	ACAN_ENST00000561243.1_Missense_Mutation_p.G1712E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1712E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1712E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1712					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)			CTCCCTTCAGGAACTGAACTC	0.537000													82	189					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725967	55725967	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55725967C>T	ENST00000379667.1	+	1	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGCTTCTCCTCCAGCTGGATT	0.443000													94	205					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784663	143784663	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143784663G>A	ENST00000292430.6	+	3	789	c.372G>A	c.(370-372)gaG>gaA	p.E124E	LY6K_ENST00000561179.1_Silent_p.E182E|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	124	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAATTTAGAGGGGCCACCTA	0.532000													64	71					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161952	161161952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161161952G>A	ENST00000367996.4	-	8	2418	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	664	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAATGATGCGATCACAGCCA	0.547000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	74					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992561	21992561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21992561G>A	ENST00000327430.3	-	2	1595	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.P297L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	434							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)		TACTGGGTGTGGGTTCATCTG	0.527000													37	30					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948673	200948673	+	Missense_Mutation	SNP	G	G	A	rs148681629		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:200948673G>A	ENST00000332129.2	-	29	4427	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1384W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1384W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1371W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1384					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGAGAGTCCGAATGCACTTG	0.597000													81	88					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049645	47049645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47049645C>T	ENST00000450053.3	+	50	7867	c.7688C>T	c.(7687-7689)aCt>aTt	p.T2563I	NBEAL2_ENST00000383740.2_Missense_Mutation_p.T812I|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T2379I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2563							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCCATCAGCACTGAACTTGAC	0.602000													23	47					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243326	6243326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:6243326C>T	ENST00000400104.3	-	7	627	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E143K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E143K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E143K			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	143					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTGGTCTTTTCACACCATCCT	0.373000													61	75					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340293	100340293	+	RNA	SNP	C	C	G	rs142617387	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:100340293C>G	ENST00000341853.1	-	0	633					NR_003260.1																						GCCGACTCCTCCACGAGTGTC	0.632000													4	37					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894476	123894476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123894476C>T	ENST00000375024.1	+	1	757	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTTTTTGTTCCCTGTGTTTT	0.537000													23	64					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966443	52966443	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52966443G>A	ENST00000549343.1	-	2	518	c.480C>T	c.(478-480)ttC>ttT	p.F160F	KRT74_ENST00000305620.2_Silent_p.F160F			Q7RTS7	K2C74_HUMAN	keratin 74	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTGCTCTAGGAAGCGTACCT	0.542000													19	29					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038969	185038969	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:185038969C>T	ENST00000296741.2	-	4	759	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	206					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCATCTTTCCTCTGCGGAG	0.582000													51	71					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715373	165715373	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:165715373G>A	ENST00000543069.1	-	2	707	c.126C>T	c.(124-126)ttC>ttT	p.F42F	C6orf118_ENST00000230301.8_Silent_p.F146F			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	146										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCACTGGAAGGAAATCCTCCT	0.627000													34	79					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640421	29640421	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29640421G>A	ENST00000376883.1	-	6	1818	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	ZFP57_ENST00000488757.1_Silent_p.V489V|ZFP57_ENST00000376881.3_Silent_p.V469V			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	405					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCATAGTGGGGACATCATGAG	0.567000													23	44					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88383988	88383988	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:88383988G>A	ENST00000419482.2	+	2	376	c.291G>A	c.(289-291)ggG>ggA	p.G97G	SMYD1_ENST00000444564.2_Silent_p.G97G|SMYD1_ENST00000438570.1_Silent_p.G97G|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGAGATATGGGAAGGTGCCCA	0.527000													19	53					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782936	80782936	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:80782936C>T	ENST00000466387.1	+	16	2383	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CTNNA2_ENST00000361291.4_Silent_p.I587I|CTNNA2_ENST00000540488.1_Silent_p.I553I|CTNNA2_ENST00000402739.4_Silent_p.I553I|CTNNA2_ENST00000343114.3_Silent_p.I232I|CTNNA2_ENST00000496558.1_Silent_p.I553I|CTNNA2_ENST00000541047.1_Silent_p.I553I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	553					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATACACATCATCAATGCTG	0.507000													74	121					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175738	63175738	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:63175738T>C	ENST00000263991.5	+	14	2344	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	EHBP1_ENST00000405289.1_Missense_Mutation_p.V586A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V586A|EHBP1_ENST00000354487.3_Missense_Mutation_p.V586A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V586A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	621						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GATAGCGGGGTTGGAGAGTCA	0.483000													13	33					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874966	20874966	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:20874966C>T	ENST00000556948.1	-	0	282																											GAAAGTTGAACCTAATACAGA	0.284000													7	26					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28962903	28962903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28962903G>A	ENST00000377179.3	-	7	2388	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGTCCAGTAAGATTTGAGCTC	0.438000													17	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794139	13794139	+	Missense_Mutation	SNP	C	C	T	rs140968268		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13794139C>T	ENST00000265104.4	-	48	8020	c.7916G>A	c.(7915-7917)cGa>cAa	p.R2639Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(1)		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)					TGTACCCATTCGTTTATCCAC	0.368000									Kartagener syndrome				30	27					0	0	1	0	0
APOC2	344	broad.mit.edu	37	19	45452002	45452002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45452002C>T	ENST00000585786.1	+	2	293	c.100C>T	c.(100-102)Ccg>Tcg	p.P34S	APOC2_ENST00000590360.1_Missense_Mutation_p.P34S|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.P111S|APOC4-APOC2_ENST00000252490.4_Missense_Mutation_p.P34S|APOC4-APOC2_ENST00000419266.2_3'UTR|APOC4-APOC2_ENST00000591597.1_3'UTR					apolipoprotein C-II											kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GATGCCTAGCCCGACCTTCCT	0.607000													31	97					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683991	6683991	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:6683991C>T	ENST00000321535.4	+	2	934	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	268										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACAGGTCATCTGGGGTATGT	0.547000													42	29					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134467519	134467519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:134467519G>A	ENST00000372195.1	-	15	2477	c.2234C>T	c.(2233-2235)tCc>tTc	p.S745F	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S746F|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S728F			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	728	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCCTCTGGGGAGATGAAGGT	0.527000													48	26					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201572	248201572	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248201572G>A	ENST00000366479.2	+	1	99	c.3G>A	c.(1-3)atG>atA	p.M1I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATTCCCCATGGAAAATTACA	0.388000													31	66					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004056	71004056	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:71004056C>T	ENST00000357250.6	-	5	668	c.510G>A	c.(508-510)tcG>tcA	p.S170S	COL9A1_ENST00000370496.3_Silent_p.S170S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S170S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGACAAATTCGAAAAGGCTG	0.428000													59	116					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108306214	108306214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:108306214G>A	ENST00000520734.1	-	5	673	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.R129C			Q15389	ANGP1_HUMAN	angiopoietin 1	330					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATCTTCACGATGTTGTATT	0.338000													80	100					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261118	1261118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1261118G>A	ENST00000447027.1	+	28	3740	c.3682G>A	c.(3682-3684)Gga>Aga	p.G1228R	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1225R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1225	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.G1228R(1)|p.G1225R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGACAAGGACGGAAACTACTA	0.652000													3	24					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207161985	207161985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207161985C>T	ENST00000374423.3	+	4	462	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	26							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCAGTGCTCAGCACAGGAG	0.373000													11	29					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9164351	9164351	+	Silent	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9164351A>T	ENST00000328194.3	-	21	3749	c.3429T>A	c.(3427-3429)ctT>ctA	p.L1143L	DENND5A_ENST00000527700.1_Silent_p.L486L|DENND5A_ENST00000530044.1_Silent_p.L1143L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1143	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGCCGAGACAAGGCCACACT	0.552000													30	60					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826187	102826187	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102826187G>A	ENST00000260302.3	-	2	184	c.156C>T	c.(154-156)ctC>ctT	p.L52L	MMP13_ENST00000340273.4_Silent_p.L52L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	52					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGATTCCCGCGAGATTTGTAG	0.463000													54	104					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091637	74091637	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74091637G>A	ENST00000443185.2	-	4	2750	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTCCGCTCCGGGAAAGGAAAA	0.612000													33	53					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57976385	57976385	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57976385G>A	ENST00000455537.2	+	27	3267	c.2992_splice	c.e27-1	p.G998_splice	KIF5A_ENST00000286452.5_Splice_Site_p.G909_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	998	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCTCTTCAGGAAATGCCACA	0.438000													76	168					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182650	133182650	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:133182650T>A	ENST00000388996.4	-	8	1586	c.1166A>T	c.(1165-1167)aAc>aTc	p.N389I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.N389I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.N269I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	389					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTTGGGGTTGGTAGCATA	0.517000													23	64					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12963181	12963181	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12963181A>G	ENST00000251472.4	+	10	1088	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	MAST1_ENST00000591495.1_Missense_Mutation_p.N346S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	350					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGTGGTTCCAACACCCCTGAG	0.617000													37	39					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211112	50211112	+	Silent	SNP	C	C	T	rs116571500	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:50211112C>T	ENST00000284509.6	-	19	2100	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	ATP8B4_ENST00000559829.1_Silent_p.Q653Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	653					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TAACACCCTCCTGTAACTTAT	0.348000													43	82					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086729	56086729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:56086729C>T	ENST00000257880.7	-	22	3094	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	ITGA7_ENST00000553804.1_Missense_Mutation_p.E919K|ITGA7_ENST00000394229.2_Missense_Mutation_p.E915K|ITGA7_ENST00000394230.2_Missense_Mutation_p.E919K|ITGA7_ENST00000452168.2_Missense_Mutation_p.E822K|ITGA7_ENST00000347027.6_Missense_Mutation_p.E909K|ITGA7_ENST00000257879.6_Missense_Mutation_p.E915K|ITGA7_ENST00000555728.1_Missense_Mutation_p.E959K			Q13683	ITA7_HUMAN	integrin, alpha 7	959					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTCCAGCTCCCGCCGCCTC	0.592000													28	50					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504474	47504474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:47504474G>A	ENST00000426342.1	-	8	1411	c.665C>T	c.(664-666)tCa>tTa	p.S222L	MDGA2_ENST00000357362.3_Missense_Mutation_p.S222L|MDGA2_ENST00000399232.2_Missense_Mutation_p.S520L|MDGA2_ENST00000439988.2_Missense_Mutation_p.S451L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	451	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCAATGGTGATTTTTCCTG	0.378000													32	33					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112673321	112673321	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112673321A>T	ENST00000550722.1	-	36	5669	c.5274T>A	c.(5272-5274)gaT>gaA	p.D1758E	HECTD4_ENST00000430131.2_Missense_Mutation_p.D1482E|HECTD4_ENST00000377560.5_Missense_Mutation_p.D1732E	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GAACCACATAATCTGCCAGCT	0.557000													35	41					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141012425	141012425	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:141012425G>A	ENST00000277549.5	+	43	5956	c.3387G>A	c.(3385-3387)gaG>gaA	p.E1129E	CACNA1B_ENST00000371363.1_Silent_p.E1933E|CACNA1B_ENST00000371357.1_Silent_p.E1934E|CACNA1B_ENST00000371372.1_Silent_p.E1935E|CACNA1B_ENST00000277551.2_Silent_p.E1935E|CACNA1B_ENST00000371355.4_Silent_p.E1936E			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCATCAAAGAGTCTGTCTCCT	0.577000													6	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456010	179456010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179456010C>T	ENST00000589042.1	-	304	60666	c.60442G>A	c.(60442-60444)Gaa>Aaa	p.E20148K	TTN_ENST00000460472.2_Missense_Mutation_p.E11083K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17580K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11208K|TTN_ENST00000591111.1_Missense_Mutation_p.E18507K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11275K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18507	Fibronectin type-III 46.						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)			ATTTGATATTCCCCAGTGTCT	0.428000													147	230					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427442	1427442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1427442C>T	ENST00000446702.2	+	20	3292	c.2665C>T	c.(2665-2667)Ccc>Tcc	p.P889S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P889S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P817S			Q9UQ52	CNTN6_HUMAN	contactin 6	889	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGGACAGGGCCCTCAAGCCC	0.458000													58	136					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209974602	209974602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:209974602C>T	ENST00000367021.3	-	3	329	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	53					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGTATTTTCCTCTTCTTGT	0.423000										HNSCC(57;0.16)			21	59					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600371	48600371	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:48600371C>A	ENST00000244050.2	+	2	154	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	31					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGTTTACCTTCCAGCAGCCCT	0.582000													84	69					6.78661e-64	6.97791e-64	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:77542460C>T	ENST00000461745.1	+	5	1633	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R261C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R245C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000													31	67					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39381963	39381963	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39381963C>T	ENST00000402182.3	+	3	376	c.321C>T	c.(319-321)ttC>ttT	p.F107F	APOBEC3B_ENST00000407298.3_Silent_p.F107F|APOBEC3B_ENST00000333467.3_Silent_p.F107F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	107					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGGCCGAATTCCTGTCTGAGC	0.582000													161	253					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958810	54958810	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:54958810T>C	ENST00000273286.5	-	2	602	c.440A>G	c.(439-441)aAc>aGc	p.N147S	LRTM1_ENST00000493075.1_Missense_Mutation_p.N71S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	147						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TATAGTTAGGTTCTCCCAAGT	0.488000													30	54					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139262223	139262223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139262223C>T	ENST00000371732.5	-	8	1300	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	CARD9_ENST00000371734.3_Missense_Mutation_p.D379N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	379					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGCAGCGCGTCCTTCTCCTGC	0.692000													19	10					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009799	46009799	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46009799T>C	ENST00000296137.2	-	8	1232	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	FYCO1_ENST00000535325.1_Missense_Mutation_p.M343V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	343					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGCTGCAGCATGGACTCCAGC	0.602000													33	98					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74304817	74304817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:74304817G>A	ENST00000355773.5	-	11	1739	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	491					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTGTCCATGGTGATCATTG	0.368000													40	93					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424775	1424775	+	Silent	SNP	T	T	G	rs141777430		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1424775T>G	ENST00000446702.2	+	18	2943	c.2316T>G	c.(2314-2316)tcT>tcG	p.S772S	CNTN6_ENST00000350110.2_Silent_p.S772S|CNTN6_ENST00000539053.1_Silent_p.S700S			Q9UQ52	CNTN6_HUMAN	contactin 6	772	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCCACTGTCTCCCTTTGAAG	0.463000													28	64					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166958650	166958650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:166958650G>A	ENST00000367872.4	+	1	305	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	MAEL_ENST00000367870.2_Missense_Mutation_p.E21K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	21					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAGATCCCCGAACTACGGCG	0.597000													5	13					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39926465	39926465	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:39926465C>T	ENST00000564288.1	+	92	22299	c.21523_splice	c.e92+1	p.S7174_splice	MACF1_ENST00000361689.2_Splice_Site_p.S5115_splice|MACF1_ENST00000289893.4_Splice_Site_p.S5617_splice|MACF1_ENST00000545844.1_Splice_Site_p.S5115_splice|MACF1_ENST00000567887.1_Splice_Site_p.S7211_splice|MACF1_ENST00000372915.3_Splice_Site_p.S7073_splice|MACF1_ENST00000539005.1_Splice_Site_p.S4985_splice|MACF1_ENST00000317713.7_Splice_Site_p.S5115_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7073	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTAGCATCCAGTGAGTCTA	0.443000													45	118					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119673858	119673858	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:119673858A>C	ENST00000379735.5	-	12	1881	c.1610T>G	c.(1609-1611)aTt>aGt	p.I537S	SEC24D_ENST00000280551.6_Missense_Mutation_p.I536S|SEC24D_ENST00000429811.2_Missense_Mutation_p.I92S|SEC24D_ENST00000511481.1_Missense_Mutation_p.I167S|SEC24D_ENST00000419654.2_Missense_Mutation_p.I92S|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	536					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTACTTATGAATCACAGATTG	0.343000													7	21					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725174	4725174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:4725174C>T	ENST00000302640.8	+	26	3571	c.3221C>T	c.(3220-3222)gCc>gTc	p.A1074V	ITPR1_ENST00000456211.2_Missense_Mutation_p.A1065V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1080V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1080V|ITPR1_ENST00000443694.2_Missense_Mutation_p.A1074V|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1089V|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1089					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGTCAGGGGCCCTGCAGCTC	0.597000													42	90					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47959800	47959800	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47959800C>T	ENST00000318711.7	+	17	2118	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	DIP2A_ENST00000466639.1_Silent_p.S601S|DIP2A_ENST00000400274.1_Silent_p.S640S|DIP2A_ENST00000457905.3_Silent_p.S644S|DIP2A_ENST00000427143.2_Silent_p.S580S|DIP2A_ENST00000417564.2_Silent_p.S644S|DIP2A_ENST00000435722.3_Silent_p.S644S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	644					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTCGATCTCCTCCTGTGACG	0.597000													19	71					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619641	52619641	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:52619641G>A	ENST00000282641.2	-	3	247	c.60C>T	c.(58-60)ctC>ctT	p.L20L	A1CF_ENST00000395495.1_Silent_p.L20L|A1CF_ENST00000373993.1_Silent_p.L20L|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000373997.3_Silent_p.L20L|A1CF_ENST00000374001.1_Silent_p.L20L	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	20					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGTGCGCGGAGGGCTGCTT	0.478000													24	84					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950286	45950286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45950286C>T	ENST00000531526.1	+	14	2167	c.2056C>T	c.(2056-2058)Ctc>Ttc	p.L686F	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.L686F|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.L686F|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.L655F|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.L655F	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	686					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCGTGACTGCCTCCAGGCCCT	0.652000													22	84					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245852057	245852057	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:245852057C>T	ENST00000366518.4	+	9	4733	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S	KIF26B_ENST00000407071.2_Silent_p.S1924S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1924					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACAGCAGCTCCGTGGGCGGCA	0.716000													8	28					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40035300	40035300	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40035300A>G	ENST00000372857.3	-	5	1497	c.705T>C	c.(703-705)ttT>ttC	p.F235F	PABPC4_ENST00000529216.1_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Silent_p.F235F|PABPC4_ENST00000372858.3_Silent_p.F235F|PABPC4_ENST00000372862.3_Silent_p.F235F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	235	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTAACTCACAAAGCCAAAGC	0.433000													66	65					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379218	114379218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:114379218G>A	ENST00000312719.5	-	5	1432	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R82C			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	82					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCATGGAGGCGAACCTGCTCC	0.597000													24	51					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119128	72119128	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72119128G>A	ENST00000356056.5	-	42	7912	c.7440C>T	c.(7438-7440)ttC>ttT	p.F2480F	MYO9A_ENST00000424560.1_Silent_p.F2551F|MYO9A_ENST00000444904.1_Silent_p.F2461F|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2480	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTCTTCCAGGAATTTGGTCT	0.443000													41	82					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854202	55854202	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55854202C>T	ENST00000255613.3	+	4	617	c.369C>T	c.(367-369)atC>atT	p.I123I	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	123	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCCAAGATCGTGTCCACTC	0.587000													23	65					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745851	14745851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14745851G>A	ENST00000253697.3	+	7	1338	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	C3orf20_ENST00000435614.1_Missense_Mutation_p.E174K|C3orf20_ENST00000412910.1_Missense_Mutation_p.E174K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	296						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGAGAAGCTGAAAGGGCCAC	0.498000													15	33					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839137	44839137	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:44839137C>T	ENST00000372262.3	-	6	1495	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	CDH22_ENST00000537909.1_Silent_p.V365V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	365	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCGGGGGTCCACGAACTTGT	0.706000													22	38					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193173	152193173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152193173C>T	ENST00000368801.2	-	3	1007	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	311					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACGTGGCT	0.612000													123	155					0	0	1	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817154	129817154	+	RNA	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:129817154T>C	ENST00000507643.1	+	0	736							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										GCAGCAGCTCTGATGGGATGA	0.537000													3	51					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818639	214818639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214818639C>T	ENST00000366955.3	+	13	5894	c.5726C>T	c.(5725-5727)tCg>tTg	p.S1909L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2005					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGATCAGATCGGAGAAAGCT	0.413000													34	52					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80971342	80971342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:80971342C>T	ENST00000555265.1	-	24	3469	c.3094G>A	c.(3094-3096)Ggt>Agt	p.G1032S	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.G1032S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1032						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTGTGGGAACCTTCCAGAAAG	0.433000													14	17					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012412	201012412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201012412G>A	ENST00000362061.3	-	40	5271	c.5045C>T	c.(5044-5046)tCc>tTc	p.S1682F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S1663F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1682					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACTACCTGGAAAACACATG	0.542000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	92	209					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283085	5283085	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5283085G>A	ENST00000546004.1	-	3	1002	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PROKR2_ENST00000217270.3_Silent_p.F252F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	252						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGACTGCCTTGAACCAGAGCT	0.587000										HNSCC(71;0.22)			27	54					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43979579	43979579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43979579C>T	ENST00000292140.5	-	16	2266	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	636										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCGTGGTTTTCGTCAGCGGCG	0.672000													24	38					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505786	159505786	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159505786C>T	ENST00000334857.2	-	1	56	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	4					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)					CTGTGAAGTTCTTTCTCTTCA	0.343000													32	45					0	0	1	0	0
NHLRC4	283948	broad.mit.edu	37	16	618306	618306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:618306G>A	ENST00000424439.2	+	2	916	c.259G>A	c.(259-261)Gag>Aag	p.E87K	NHLRC4_ENST00000540585.1_Missense_Mutation_p.E87K|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	87																	CCTGGTGTCAGAGGGGCTTGG	0.627000													9	5					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38468552	38468552	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:38468552A>T	ENST00000404072.3	+	9	972	c.625A>T	c.(625-627)Aag>Tag	p.K209*	PICK1_ENST00000356976.3_Nonsense_Mutation_p.K209*|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	209	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGCTTTTGTGAAGTTCGCCGA	0.592000													34	80					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642283	196642283	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:196642283G>A	ENST00000367429.4	+	2	474	c.234G>A	c.(232-234)agG>agA	p.R78R	CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Silent_p.R78R|CFH_ENST00000359637.2_Silent_p.R78R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	78	Sushi 1.		R -> G (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCCATTAAGGAAATGTCAGA	0.333000													50	75					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147315	26147315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:26147315G>A	ENST00000331351.5	+	2	1509	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	373					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGTACAGGATTTTCTAGG	0.507000													14	40					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398588	10398588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:10398588G>A	ENST00000226207.5	-	36	5310	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1739						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						CTGGATTTGGGAAATGTCTGT	0.433000													57	42					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074059	108074059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108074059G>A	ENST00000357759.5	+	5	930	c.516G>A	c.(514-516)tgG>tgA	p.W172*	HHLA2_ENST00000489514.2_Nonsense_Mutation_p.W172*|HHLA2_ENST00000467761.1_Nonsense_Mutation_p.W172*|HHLA2_ENST00000491820.1_Nonsense_Mutation_p.W172*|HHLA2_ENST00000467562.1_Nonsense_Mutation_p.W108*	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	172	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTATCACGTGGAAAATGGACA	0.373000													17	28					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408567	52408567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52408567C>T	ENST00000293662.4	+	8	852	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	GRASP_ENST00000552049.1_Missense_Mutation_p.P115S|GRASP_ENST00000380039.2_Missense_Mutation_p.P115S|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	258	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGCTCGCTGCCCTTCGGGCC	0.736000													5	1					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169020267	169020267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:169020267C>T	ENST00000355999.4	-	4	1259	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	185	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTGACCGTTTCTGTGTAGATA	0.388000													22	35					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925085	48925085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48925085C>T	ENST00000263269.3	+	10	2223	c.2135C>T	c.(2134-2136)aCc>aTc	p.T712I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	712						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AAGTTTGGGACCGTGCCCAAC	0.602000													30	80					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100125397	100125397	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100125397G>A	ENST00000394899.2	-	9	1200	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Silent_p.I160I|RP11-696N14.1_ENST00000500358.2_RNA	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	8					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GGATACAGCGGATACTGAAAA	0.323000													11	41					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794085	14794085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:14794085C>T	ENST00000261170.3	-	18	2135	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	667	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCGATGATCCCATAGCTGTAC	0.483000													41	61					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360273	21360273	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21360273C>A	ENST00000304639.3	+	2	486	c.428C>A	c.(427-429)cCa>cAa	p.P143Q		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	143					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AACAGAGATCCACGGGATTCT	0.483000													4	84					0.00909568	0.00912546	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157490941	157490941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:157490941C>T	ENST00000361835.3	-	11	2538	c.2381G>A	c.(2380-2382)gGa>gAa	p.G794E	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.G794E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	794	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGACCTATTTCCTAGGGTGAC	0.587000													63	97					0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78970822	78970822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78970822G>A	ENST00000325167.5	+	5	442	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	122					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTCCATTGAAGAGGTGGAGAG	0.642000													31	79					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043849	20043849	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20043849G>A	ENST00000570682.1	-	2	570	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	90						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTTCAAGATGAAATCTTCCA	0.463000													10	30					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105137922	105137922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105137922G>A	ENST00000428173.2	+	6	779	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	NRK_ENST00000243300.9_Missense_Mutation_p.R159Q|NRK_ENST00000536164.1_Missense_Mutation_p.R159Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	159	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATATCTGCCGAGAAATCCTT	0.403000										HNSCC(51;0.14)			15	2					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874038	36874038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:36874038C>T	ENST00000301807.6	-	21	7151	c.5254G>A	c.(5254-5256)Gag>Aag	p.E1752K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2302K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1752K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2302					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTCAAACTCCTCCGGGTAG	0.527000													16	37					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411707	105411707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105411707G>A	ENST00000333244.5	-	7	10200	c.10081C>T	c.(10081-10083)Cct>Tct	p.P3361S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3361						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACAGAAGGGAGCTGAATG	0.672000													79	85					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150489374	150489374	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150489374A>C	ENST00000354546.5	-	22	1851	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A	ANXA6_ENST00000356496.5_Missense_Mutation_p.S536A|ANXA6_ENST00000377751.5_Missense_Mutation_p.S199A|ANXA6_ENST00000523714.1_Missense_Mutation_p.S510A|ANXA6_ENST00000521512.1_Missense_Mutation_p.S329A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	542						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTCCAAGGAAGTTTTGTCT	0.537000													3	17					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981753	89981753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89981753G>A	ENST00000405460.2	+	29	6527	c.6431G>A	c.(6430-6432)gGa>gAa	p.G2144E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2144					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)		ACTAGAACAGGAGGAGCATTT	0.418000													5	6					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4540018	4540018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4540018G>A	ENST00000306390.6	-	1	468	c.8C>T	c.(7-9)tCt>tTt	p.S3F	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.S3F	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	3						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTCCAAGAGGACATGGT	0.577000													90	128					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8416089	8416089	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8416089A>G	ENST00000356406.5	-	5	550	c.473T>C	c.(472-474)cTg>cCg	p.L158P	ACOX3_ENST00000503233.1_Missense_Mutation_p.L158P|ACOX3_ENST00000413009.2_Missense_Mutation_p.L158P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	158					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						TAATTCGGTCAGAGCAAAACA	0.473000													27	48					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67249976	67249976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:67249976G>A	ENST00000392676.3	-	33	4343	c.4279C>T	c.(4279-4281)Cag>Tag	p.Q1427*	ABCA5_ENST00000588877.1_Nonsense_Mutation_p.Q1427*|ABCA5_ENST00000392677.2_Nonsense_Mutation_p.Q1428*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1427	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAGTCTTCTGAAGATGTTCT	0.308000													59	70					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19175920	19175920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19175920G>A	ENST00000375371.3	-	4	1403	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	461					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)	GCTCTGGAAGGGATTCTGGCT	0.582000													24	58					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183683202	183683202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:183683202C>T	ENST00000334444.6	-	13	2161	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	ABCC5_ENST00000265586.6_Missense_Mutation_p.D641N	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	641	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGATGTTGTCTCTCAGAGTA	0.507000													85	33					0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713876	58713876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:58713876G>A	ENST00000570101.1	-	2	1038	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC38A7_ENST00000564391.1_Missense_Mutation_p.S52F|SLC38A7_ENST00000219320.4_Missense_Mutation_p.S52F|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.S52F			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	52					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CCCAAGTGTGGAAGTGGTGCC	0.657000													10	10					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203677134	203677134	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:203677134T>G	ENST00000357681.5	+	10	2582	c.1459T>G	c.(1459-1461)Tac>Gac	p.Y487D	ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y487D|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y475D|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y487D|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y487D	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	487					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGCATCCATTACCGTCAAAT	0.498000													47	101					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13732391	13732391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:13732391G>A	ENST00000354817.3	+	5	841	c.697G>A	c.(697-699)Ggt>Agt	p.G233S	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	233					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATCGATTGTTGGTGCCAGTTG	0.353000													22	32					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029724	79029724	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79029724A>T	ENST00000446378.2	+	2	5167	c.5136A>T	c.(5134-5136)gaA>gaT	p.E1712D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1712						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAATGAAGAAATTAAACCTT	0.423000													3	27					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805651	96805651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96805651C>T	ENST00000371270.3	-	6	971	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C8_ENST00000539050.1_Missense_Mutation_p.D207N|CYP2C8_ENST00000535898.1_Missense_Mutation_p.D191N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	293					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAAATAGATCAGCTACAGTG	0.433000													26	53					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923520	150923520	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150923520C>G	ENST00000261800.5	-	9	7180	c.7168G>C	c.(7168-7170)Gaa>Caa	p.E2390Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2390	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCCAGTTCACTGACATTG	0.498000													39	32					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367916	37367916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37367916C>T	ENST00000529555.1	+	2	972	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ZNF345_ENST00000589046.1_Missense_Mutation_p.L62F|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.L62F|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	62					negative 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	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGAAACTCCTTGAATGTAA	0.393000													40	49					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693137	69693137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69693137C>T	ENST00000265403.7	+	5	1205	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P309L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	393					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GTGGGCATTCCATTGTTTTTT	0.448000													71	95					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211364	64211364	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:64211364G>T	ENST00000262150.2	-	7	1350	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	CDH19_ENST00000540086.1_Missense_Mutation_p.S353Y	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	353	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAAAGTGGTGGAAGCCTCAGT	0.423000													19	27					4.96729e-08	5.00486e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9049034	9049034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9049034G>A	ENST00000397910.4	-	5	32800	c.32597C>T	c.(32596-32598)cCa>cTa	p.P10866L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10868	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						AGTTGGAGTTGGAACAGCTGA	0.458000													46	46					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33585094	33585094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33585094G>A	ENST00000170564.2	+	5	786	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	158	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTTGGTTTCGAATTGCTAAG	0.393000													26	42					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28863814	28863814	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28863814A>G	ENST00000422425.2	+	56	4131	c.4087A>G	c.(4087-4089)Act>Gct	p.T1363A	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Missense_Mutation_p.T339A|PLB1_ENST00000327757.5_Missense_Mutation_p.T1374A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1374	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGGCCGCAAGACTACCTCCAA	0.577000													17	32					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604911	58604911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:58604911G>A	ENST00000267485.7	-	2	1360	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	389						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAAAGCAGGTGATCTCTCATT	0.532000													7	123					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456399	27456399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:27456399C>T	ENST00000264705.4	+	20	3373	c.3211C>T	c.(3211-3213)Ctc>Ttc	p.L1071F	CAD_ENST00000403525.1_Missense_Mutation_p.L1008F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1071	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTCAGTGACCTCGAGGTGGG	0.577000													18	35					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76973992	76973992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:76973992G>A	ENST00000426216.2	+	11	1078	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	ATP9B_ENST00000307671.7_Missense_Mutation_p.G354E	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	354					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ATTTATACCGGAAAAGAGACT	0.328000													9	30					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762617	130762617	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:130762617C>T	ENST00000392429.1	+	2	3428	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	TMEM200A_ENST00000545622.1_Silent_p.S350S|TMEM200A_ENST00000296978.3_Silent_p.S350S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGAATAATTCCATTGGGGAGT	0.522000													31	62					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34627714	34627714	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34627714A>G	ENST00000378909.2	-	1	390	c.298T>C	c.(298-300)Tac>Cac	p.Y100H		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGTTCCTCGTAGGTCCACTCG	0.622000													29	44					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76183458	76183458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76183458G>A	ENST00000409257.5	+	1	61	c.7G>A	c.(7-9)Gat>Aat	p.D3N	AFMID_ENST00000591952.1_Missense_Mutation_p.D3N|AFMID_ENST00000327898.5_Missense_Mutation_p.D3N|AFMID_ENST00000588800.1_Missense_Mutation_p.D3N|AFMID_ENST00000589256.1_Missense_Mutation_p.D3N	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	3						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CGCCATGATGGATGTGTCTGG	0.597000													42	118					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568568	55568568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55568568C>T	ENST00000395445.1	-	36	5636	c.5242G>A	c.(5242-5244)Gaa>Aaa	p.E1748K	PCDH15_ENST00000395442.1_Missense_Mutation_p.E613K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.E682K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E944K|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACTGACTTTCGCTACTACTG	0.488000										HNSCC(58;0.16)			11	12					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3277521	3277521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3277521C>T	ENST00000252032.9	-	23	2072	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Missense_Mutation_p.E407K	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	669										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTCTTTTGTTCCACAGATAAT	0.433000													105	255					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911944	53911944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:53911944G>A	ENST00000396408.3	+	4	1253	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTCATACTGGAGAGAAACCT	0.403000													56	89					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374842	39374842	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39374842C>T	ENST00000326306.4	+	2	1158	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	CCR8_ENST00000545843.1_Silent_p.S257S|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	340					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGTCATCATCCTGCCAGCAGC	0.408000													35	38					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37167250	37167250	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:37167250T>C	ENST00000274258.7	-	35	7526	c.3939A>G	c.(3937-3939)ctA>ctG	p.L1313L	C5orf42_ENST00000508244.1_Silent_p.L2433L|C5orf42_ENST00000425232.2_Silent_p.L2433L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2433										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AATTATGTGTTAGTTTCTGTT	0.338000													23	29					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959559	53959559	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:53959559C>T	ENST00000454407.1	+	0	2251							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCAGAAAATTCATACTGAAGA	0.413000													22	99					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147424	62147424	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:62147424C>T	ENST00000416284.3	-	4	1947	c.363G>A	c.(361-363)ggG>ggA	p.G121G	FAM19A2_ENST00000551619.1_Silent_p.G121G|FAM19A2_ENST00000550003.1_Silent_p.G24G|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	121						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGACTTTATTCCCAGAGGAAC	0.433000													32	48					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378035	105378035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:105378035G>A	ENST00000264122.4	-	19	3049	c.2728C>T	c.(2728-2730)Ccg>Tcg	p.P910S	CBLB_ENST00000394027.3_Missense_Mutation_p.P888S|CBLB_ENST00000407712.1_Missense_Mutation_p.P125S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	910	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTCCTGCGCGGTCGTGGTTTA	0.453000			Mis S		AML								26	66					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136997	8136997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8136997C>T	ENST00000600128.1	-	63	8437	c.8023G>A	c.(8023-8025)Gaa>Aaa	p.E2675K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2675K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2675K			Q75N90	FBN3_HUMAN	fibrillin 3	2675						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						ATCTTGCATTCGTAGCAGGCT	0.662000													15	149					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131924268	131924268	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:131924268C>T	ENST00000403834.3	-	16	2024	c.1851G>A	c.(1849-1851)cgG>cgA	p.R617R	MED23_ENST00000545957.1_Silent_p.R252R|MED23_ENST00000540546.1_Silent_p.R617R|MED23_ENST00000368060.3_Silent_p.R611R|MED23_ENST00000368058.1_Silent_p.R617R|MED23_ENST00000354577.4_Silent_p.R617R|MED23_ENST00000368053.4_Silent_p.R617R|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Silent_p.R611R			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	611					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATGATGCATCCGGTAGCTAA	0.438000													50	65					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45185854	45185854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45185854C>T	ENST00000358777.4	+	7	1288	c.808C>T	c.(808-810)Cca>Tca	p.P270S	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.P270S|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	270						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCCCACACCCCCACACCTGCA	0.647000													5	5					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49224982	49224982	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49224982G>A	ENST00000327979.2	-	11	1299	c.888C>T	c.(886-888)atC>atT	p.I296I	FAM65C_ENST00000535356.1_Silent_p.I300I|FAM65C_ENST00000045083.2_Silent_p.I296I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	296										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						TGTCCACCACGATGACCTGCG	0.662000													67	132					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144316	91144316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:91144316G>A	ENST00000371809.3	+	2	1326	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	416							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CCATTCCAGGGAAAAACTTCT	0.383000													25	65					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477036	63477036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:63477036G>A	ENST00000536984.2	+	3	1001	c.307G>A	c.(307-309)Gat>Aat	p.D103N	CDH7_ENST00000323011.3_Missense_Mutation_p.D103N|CDH7_ENST00000397968.2_Missense_Mutation_p.D103N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	103	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAACACTGGGGATATTCATGC	0.502000													27	42					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677466	37677466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37677466G>A	ENST00000532828.2	-	5	1224	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ZNF585B_ENST00000531805.1_Missense_Mutation_p.P270S|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATATATAGGGCTTCACTCTT	0.378000													63	125					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196681	28196681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:28196681G>A	ENST00000305242.5	-	17	2613	c.2521C>T	c.(2521-2523)Cgt>Tgt	p.R841C	ARMC4_ENST00000537576.1_Missense_Mutation_p.R533C|ARMC4_ENST00000545014.1_Missense_Mutation_p.R366C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	841							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACAACAAACGAACTCCATCT	0.423000													22	55					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76359010	76359010	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76359010T>A	ENST00000312916.7	+	14	2460	c.2078T>A	c.(2077-2079)tTc>tAc	p.F693Y		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	693					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACTGAAAACTTCCCAGAAACT	0.413000													11	59					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656664	3656664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3656664C>T	ENST00000263087.4	-	14	1686	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	530					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCAAGAAGTCCGTGCTTCCA	0.562000													19	16					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361461	124361461	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124361461C>T	ENST00000368909.3	+	29	3598	c.3492C>T	c.(3490-3492)ggC>ggT	p.G1164G	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.G1164G|DMBT1_ENST00000368955.3_Silent_p.G1154G|DMBT1_ENST00000344338.3_Silent_p.G1154G|DMBT1_ENST00000368956.2_Silent_p.G665G|DMBT1_ENST00000330163.4_Silent_p.G665G	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1164	SRCR 9.				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)				GGCAGCTGGGCTGTGGCTGGG	0.597000													95	263					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848761	117848761	+	Missense_Mutation	SNP	G	G	C	rs150548325		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:117848761G>C	ENST00000350763.4	-	3	1660	c.1249C>G	c.(1249-1251)Cgc>Ggc	p.R417G	TNC_ENST00000340094.3_Missense_Mutation_p.R417G|TNC_ENST00000341037.4_Missense_Mutation_p.R417G|TNC_ENST00000537320.1_Missense_Mutation_p.R417G|TNC_ENST00000345230.3_Missense_Mutation_p.R417G|TNC_ENST00000542877.1_Missense_Mutation_p.R417G|TNC_ENST00000346706.3_Missense_Mutation_p.R417G|TNC_ENST00000535648.1_Missense_Mutation_p.R417G|TNC_ENST00000423613.2_Missense_Mutation_p.R417G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	417	EGF-like 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGACACAGCGGCCATGGCCA	0.602000													41	32					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45920149	45920149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45920149G>A	ENST00000300853.3	-	6	1123	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	ERCC1_ENST00000589165.1_Missense_Mutation_p.P178S|ERCC1_ENST00000591636.1_Missense_Mutation_p.P178S|ERCC1_ENST00000340192.7_Missense_Mutation_p.P178S|ERCC1_ENST00000013807.5_Missense_Mutation_p.P178S|ERCC1_ENST00000423698.2_Missense_Mutation_p.P106S	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	178					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GCCTGCTGGGGATCTTTCTGG	0.522000								Nucleotide excision repair (NER)					16	23					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302320	209302320	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:209302320G>A	ENST00000272847.2	+	3	450	c.237G>A	c.(235-237)ggG>ggA	p.G79G	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	79						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAACAGTGGGGAAAATATCGG	0.313000													27	45					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350878	56350878	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56350878T>C	ENST00000340482.3	-	8	1790	c.1614A>G	c.(1612-1614)caA>caG	p.Q538Q	MPO_ENST00000225275.3_Silent_p.Q506Q			P05164	PERM_HUMAN	myeloperoxidase	506					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)	ACATGAAGGGTTGGATGAGGG	0.597000													161	157					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522694	124522694	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:124522694C>T	ENST00000408936.3	+	6	1328	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	DAB2IP_ENST00000259371.2_Silent_p.I354I|DAB2IP_ENST00000309989.1_Silent_p.I258I			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	382	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGTGCACATCCTGCAGAGCA	0.632000													19	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604483	179604483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179604483G>A	ENST00000589042.1	-	48	13701	c.13477C>T	c.(13477-13479)Cct>Tct	p.P4493S	TTN_ENST00000460472.2_Missense_Mutation_p.P4130S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4255S|TTN_ENST00000591111.1_Missense_Mutation_p.P4176S|TTN_ENST00000342175.6_Missense_Mutation_p.P4322S|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4176	Ig-like 25.						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)			TGAATTCTAGGACCCTCAGCT	0.393000													67	181					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509798	86509798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86509798G>A	ENST00000450689.2	-	22	3264	c.3079C>T	c.(3079-3081)Cca>Tca	p.P1027S	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P860S|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P787S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P956S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1027						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CATATATTTGGGGATCTTGAG	0.353000													14	43					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155319	139155319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:139155319C>T	ENST00000395297.1	-	16	3744	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1192										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATAACCGATCCGTCATAGTA	0.458000										HNSCC(54;0.14)			20	53					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616188	4616188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4616188G>A	ENST00000450052.2	+	2	992	c.992G>A	c.(991-993)gGa>gAa	p.G331E	OR52I1_ENST00000530443.2_Missense_Mutation_p.G307E			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTGGAGGGAATATGGAGT	0.468000													30	95					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39234776	39234776	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39234776G>A	ENST00000328867.4	-	1	338	c.30C>T	c.(28-30)atC>atT	p.I10I	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	10					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)			CCACGAGCTGGATGGTGACCC	0.652000													64	62					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741360	156741360	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156741360G>A	ENST00000347377.6	+	12	1550	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	CYFIP2_ENST00000521420.1_Silent_p.T347T|CYFIP2_ENST00000435847.2_Silent_p.T47T|CYFIP2_ENST00000377576.3_Silent_p.T373T|CYFIP2_ENST00000318218.6_Silent_p.T373T|CYFIP2_ENST00000522463.1_Silent_p.T177T|CYFIP2_ENST00000541131.1_Silent_p.T298T|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	373					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGGTGACGGGCTCAGGGC	0.552000													9	72					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17737587	17737587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17737587G>A	ENST00000428389.2	-	35	4191	c.4192C>T	c.(4192-4194)Ccg>Tcg	p.P1398S	UNC13A_ENST00000519716.2_Missense_Mutation_p.P1310S|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1310S|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1310S|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1308S|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1310S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1310	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAATGTGCGGCTGGAAGCTG	0.557000													3	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605809	179605809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179605809C>T	ENST00000589042.1	-	48	12375	c.12151G>A	c.(12151-12153)Gat>Aat	p.D4051N	TTN_ENST00000460472.2_Missense_Mutation_p.D3688N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3813N|TTN_ENST00000591111.1_Missense_Mutation_p.D3734N|TTN_ENST00000342175.6_Missense_Mutation_p.D3880N|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3734							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)			TGTGGAAAATCCTCAGGAGCC	0.498000													76	128					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618077	8618077	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8618077C>T	ENST00000338257.8	-	6	717	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	150	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGCCTCGAGCAGCGGGTTGG	0.592000													16	143					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78346396	78346396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78346396C>T	ENST00000582970.1	+	48	12756	c.12613C>T	c.(12613-12615)Ctt>Ttt	p.L4205F	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2278F|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4254F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	239										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGTCGTTTCCTTAAGGCATA	0.522000													22	25					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11051708	11051708	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:11051708C>A	ENST00000409790.1	+	2	380	c.150C>A	c.(148-150)acC>acA	p.T50T	CLEC16A_ENST00000409552.3_Silent_p.T50T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	50										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TAGTGGAGACCATCCGTTCCA	0.413000													16	72					1.99824e-07	2.01269e-07	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55540930	55540930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55540930G>A	ENST00000361760.1	+	1	17	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCATCTGAAAGAAATCAAAGC	0.378000													27	69					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37395976	37395976	+	Missense_Mutation	SNP	G	G	A	rs142285042		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37395976G>A	ENST00000405091.2	-	5	790	c.539C>T	c.(538-540)tCa>tTa	p.S180L	TEX33_ENST00000402860.3_Missense_Mutation_p.S95L|TEX33_ENST00000381821.1_Missense_Mutation_p.S180L			O43247	EAN57_HUMAN	testis expressed 33	180																	GCTGGGCCATGAGCTTGCCCT	0.517000													47	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404603	179404603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179404603C>T	ENST00000589042.1	-	352	98413	c.98189G>A	c.(98188-98190)gGa>gAa	p.G32730E	TTN_ENST00000460472.2_Missense_Mutation_p.G23665E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30162E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G23790E|TTN_ENST00000591111.1_Missense_Mutation_p.G31089E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G23857E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31089	Ig-like 145.						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)			GAATGGTTTTCCTTTGATTGG	0.393000													28	48					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	995046	995046	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:995046C>T	ENST00000537687.1	+	19	6499	c.5856C>T	c.(5854-5856)atC>atT	p.I1952I	WNK1_ENST00000315939.6_Silent_p.I1692I|WNK1_ENST00000535572.1_Silent_p.I1445I|WNK1_ENST00000530271.2_Silent_p.I2190I|WNK1_ENST00000340908.4_Silent_p.I1285I	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1692					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACCAGGCATCCCAACTACTG	0.493000													56	117					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35723349	35723349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:35723349G>A	ENST00000187397.4	+	3	562	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ARPP21_ENST00000438071.1_Missense_Mutation_p.E36K|ARPP21_ENST00000432682.1_Missense_Mutation_p.E36K|ARPP21_ENST00000427542.1_Missense_Mutation_p.E36K|ARPP21_ENST00000458225.1_Missense_Mutation_p.E36K|ARPP21_ENST00000417925.1_Missense_Mutation_p.E36K|ARPP21_ENST00000428373.1_Missense_Mutation_p.E36K|ARPP21_ENST00000436702.1_Missense_Mutation_p.E36K|ARPP21_ENST00000444190.1_Missense_Mutation_p.E36K|ARPP21_ENST00000412048.1_Missense_Mutation_p.E36K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E36K|ARPP21_ENST00000396482.2_Missense_Mutation_p.E36K|ARPP21_ENST00000441454.1_Missense_Mutation_p.E36K|ARPP21_ENST00000396481.2_Missense_Mutation_p.E36K|ARPP21_ENST00000474696.1_Missense_Mutation_p.E36K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	36						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						AAGTCTGGATGAAGAGGAGAA	0.473000													22	42					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169138132	169138132	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169138132G>A	ENST00000393743.3	-	38	5382	c.5091C>T	c.(5089-5091)gcC>gcT	p.A1697A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1697							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTGTTCAAAGGCTAAGACAA	0.338000													20	32					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567792	76567792	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76567792G>A	ENST00000389840.5	-	4	736	c.612C>T	c.(610-612)atC>atT	p.I204I	DNAH17_ENST00000585328.1_Silent_p.I204I					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)			GCACATCCCGGATCTGGTGGG	0.602000													74	86					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857613	76857613	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:76857613C>T	ENST00000491677.2	-	6	959	c.417G>A	c.(415-417)cgG>cgA	p.R139R	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Silent_p.R60R|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Silent_p.R146R|DUSP13_ENST00000605915.1_Silent_p.R32R|DUSP13_ENST00000472493.2_Silent_p.R10R|DUSP13_ENST00000607131.1_Silent_p.R103R|DUSP13_ENST00000464872.1_Silent_p.R10R	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					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)					TCTTGGGCCTCCGGAGGTCCT	0.637000													18	31					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931935	55931935	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:55931935C>T	ENST00000389286.4	-	13	2276	c.2229G>A	c.(2227-2229)agG>agA	p.R743R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	743	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATGCAGGCCTCCTCCAGTGCA	0.507000													62	117					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79229258	79229258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79229258G>A	ENST00000264895.6	+	15	2013	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E525K|FRAS1_ENST00000264899.6_Missense_Mutation_p.E525K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	525					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGCCCAACGGAGAAGCACTG	0.547000													18	34					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179337973	179337973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:179337973C>T	ENST00000367618.3	+	3	523	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Missense_Mutation_p.R46C	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	46										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TATGGTGGATCGTTCAAAACT	0.378000													15	46					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	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													13	132					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160551162	160551162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160551162G>A	ENST00000366963.4	+	2	585	c.438G>A	c.(436-438)tgG>tgA	p.W146*	SLC22A1_ENST00000457470.2_Nonsense_Mutation_p.W146*|SLC22A1_ENST00000324965.4_Nonsense_Mutation_p.W146*	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	146						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGACTCCTGGAAGCTGGACC	0.517000													41	112					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52500759	52500759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:52500759C>T	ENST00000261839.7	-	36	4539	c.4378G>A	c.(4378-4380)Gga>Aga	p.G1460R		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1460	Dilute.					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)		ACCTCTTCTCCGCTGTACTGC	0.463000											OREG0023129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	70					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34512395	34512395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34512395C>T	ENST00000242317.4	+	15	1633	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	488					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CACGGAAGTTCCTGAGGGGTT	0.602000									Kartagener syndrome				9	35					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45868996	45868996	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45868996C>T	ENST00000443527.2	+	1	40	c.18C>T	c.(16-18)gtC>gtT	p.V6V	CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGGTCCACGTCGCCTACCGGG	0.726000													8	16					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498649	19498649	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19498649G>A	ENST00000396229.2	+	17	3322		c.e17+1		TMC5_ENST00000564959.1_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000561503.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATCTGGAGGTAGGAGAAGG	0.512000													13	48					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779434	142779434	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:142779434A>T	ENST00000343796.2	-	2	1964	c.971T>A	c.(970-972)gTg>gAg	p.V324E	NR3C1_ENST00000415690.2_Missense_Mutation_p.V324E|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.V324E|NR3C1_ENST00000231509.3_Missense_Mutation_p.V324E|NR3C1_ENST00000504572.1_Missense_Mutation_p.V324E|NR3C1_ENST00000503201.1_Missense_Mutation_p.V324E|NR3C1_ENST00000394466.2_Missense_Mutation_p.V324E|NR3C1_ENST00000424646.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	324	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGAGGTACTCACACCATGAAC	0.403000													55	64					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189496	59189496	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:59189496C>A	ENST00000302040.4	-	1	953	c.931G>T	c.(931-933)Ggg>Tgg	p.G311W		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGAGAAATCCCGGGGTCCCTT	0.413000													35	80					1.22384e-17	1.24126e-17	1	1	0
GNB1L	54584	broad.mit.edu	37	22	19776432	19776432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:19776432G>A	ENST00000329517.6	-	8	1020	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GNB1L_ENST00000403325.1_Missense_Mutation_p.R262W|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	262					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CGATCTGGCCGGATCGTGACC	0.632000													40	68					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386994	124386994	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124386994C>A	ENST00000303921.2	-	2	2077	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	476						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCTCGGGTACAGGCTTTCTC	0.438000													43	96					1.86633e-21	1.90361e-21	1	1	0
HIGD2B	123346	broad.mit.edu	37	15	72968672	72968672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72968672G>A	ENST00000311755.3	-	3	567	c.44C>T	c.(43-45)tCa>tTa	p.S15L						HIG1 hypoxia inducible domain family, member 2B																		GGGCTTCGATGATTCAAAGGG	0.512000													7	3					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728071	50728071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:50728071G>A	ENST00000449103.1	-	3	1083	c.943C>T	c.(943-945)Ccg>Tcg	p.P315S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P315S			O15031	PLXB2_HUMAN	plexin B2	315	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTGTCCAGCGGGAACAGGCAG	0.662000													29	77					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396000	10396000	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10396000G>A	ENST00000328655.3	+	5	796	c.756G>A	c.(754-756)ggG>ggA	p.G252G	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	252	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACAGTGGGGGGCCTCTGGTCT	0.577000													24	65					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002643	122002643	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:122002643C>T	ENST00000498619.1	+	7	2310	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	CASR_ENST00000296154.5_Silent_p.I614I|CASR_ENST00000490131.1_Silent_p.I614I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	614					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.I614I(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)	CCTTTGGGATCGCACTCACCC	0.537000													25	55					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221640	43221640	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:43221640C>T	ENST00000422911.1	-	25	3458	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.Q1062Q|PRDM15_ENST00000269844.3_Silent_p.Q1428Q|PRDM15_ENST00000538201.1_Silent_p.Q1082Q|PRDM15_ENST00000398548.1_Silent_p.Q1099Q			P57071	PRD15_HUMAN	PR domain containing 15	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGGGTGGATCTGGACGTCAT	0.582000													25	50					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977228	34977228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34977228C>T	ENST00000242315.3	+	6	1080	c.998C>T	c.(997-999)tCc>tTc	p.S333F	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.S333F	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	333							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGCTCCTTCCTGCAGTGTC	0.642000													20	85					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687555	171687555	+	Missense_Mutation	SNP	C	C	T	rs150945113		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171687555C>T	ENST00000358196.3	+	5	950	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.R134C|GAD1_ENST00000375272.1_Missense_Mutation_p.R134C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	134					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R134C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACATTTGATCGCTCCACCAA	0.542000													32	55					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220247342	220247342	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220247342C>T	ENST00000469520.2	-	4	641	c.192G>A	c.(190-192)cgG>cgA	p.R64R	BPNT1_ENST00000414869.2_Silent_p.R64R|BPNT1_ENST00000544404.1_Silent_p.R9R|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Silent_p.R64R|BPNT1_ENST00000354807.3_Silent_p.R64R			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	64					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TGGGGAATTTCCGGGCCAATG	0.393000													79	131					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247013	2247013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2247013G>A	ENST00000221494.4	+	7	956	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	180					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGACCATTGCCTTCAAGGT	0.647000													32	30					0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38741973	38741973	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38741973C>A	ENST00000591291.1	-	3	336	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	PPP1R14A_ENST00000587515.1_Silent_p.R73R|PPP1R14A_ENST00000347262.4_Silent_p.R116R|PPP1R14A_ENST00000301242.4_Silent_p.R143R			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	0	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGAGCAGTCCGGGCCCGGT	0.627000													9	9					0.0581538	0.0582869	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107032349	107032349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:107032349C>T	ENST00000409886.3	-	21	5108	c.5021G>A	c.(5020-5022)cGg>cAg	p.R1674Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R1674Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1674					intracellular transport		binding	p.R1674L(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCTATTTCCCGAAGCAGGCC	0.443000													44	150					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629639	48629639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48629639G>A	ENST00000328333.8	-	9	1243	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	COL7A1_ENST00000454817.1_Missense_Mutation_p.S379L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	379	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAACACTGAACCCTGCCC	0.647000													58	91					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36231067	36231067	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:36231067G>A	ENST00000303965.4	-	2	531	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	14	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCTCATTAGGAAATCTTTTA	0.398000													44	72					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:82408790C>T	ENST00000370728.1	+	8	1180	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_ENST00000370717.2_Missense_Mutation_p.R179C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183C|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179C|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179C|LPHN2_ENST00000319517.6_Missense_Mutation_p.R179C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179C|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179C			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(2)		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)		GACTCCCTATCGTACCGATAC	0.398000													35	42					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780106	22780106	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:22780106G>A	ENST00000600260.1	+	0	184					NR_033899.1																						ATCAGTGGAGGAACAGCCCTG	0.433000													37	32					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78426765	78426765	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:78426765G>A	ENST00000274353.5	+	8	1154	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Silent_p.K196K	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	349					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGGCCAGGAAGGAATACTGGG	0.463000													63	105					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34000545	34000545	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:34000545C>T	ENST00000354992.2	-	6	1063		c.e6-1		LARGE_ENST00000437602.2_Splice_Site|LARGE_ENST00000337431.2_Splice_Site|LARGE_ENST00000397394.2_Splice_Site|LARGE_ENST00000402320.1_Splice_Site	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase						glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGGTTCCGTCTGTGGGGAGT	0.562000													34	72					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52895477	52895477	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:52895477C>T	ENST00000354452.3	-	19	2606	c.1995G>A	c.(1993-1995)tcG>tcA	p.S665S	TCF4_ENST00000537578.1_Silent_p.S641S|TCF4_ENST00000564999.1_Silent_p.S661S|TCF4_ENST00000568673.1_Silent_p.S641S|TCF4_ENST00000398339.1_Silent_p.S767S|TCF4_ENST00000564228.1_Silent_p.S590S|TCF4_ENST00000356073.4_Silent_p.S661S|TCF4_ENST00000570177.2_Silent_p.S531S|TCF4_ENST00000568740.1_Silent_p.S636S|TCF4_ENST00000564403.2_Silent_p.S671S|TCF4_ENST00000561831.3_Silent_p.S501S|TCF4_ENST00000567880.1_Silent_p.S601S|TCF4_ENST00000537856.3_Silent_p.S531S|TCF4_ENST00000561992.1_Silent_p.S531S|TCF4_ENST00000457482.3_Silent_p.S505S|TCF4_ENST00000566286.1_Silent_p.S658S|TCF4_ENST00000570287.2_Silent_p.S501S|TCF4_ENST00000543082.1_Silent_p.S619S|TCF4_ENST00000540999.1_Silent_p.S637S|TCF4_ENST00000544241.2_Silent_p.S594S|TCF4_ENST00000566279.1_Silent_p.S605S|TCF4_ENST00000565018.2_Silent_p.S665S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	661					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGTGATTCGATGCGTCTC	0.488000													40	63					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75104394	75104394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:75104394C>T	ENST00000290573.2	+	8	1577	c.977C>T	c.(976-978)cCa>cTa	p.P326L	HK2_ENST00000409174.1_Missense_Mutation_p.P298L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	326	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AAGCTCAGCCCAGAGCTTCTC	0.542000													59	189					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225727399	225727399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:225727399G>A	ENST00000409592.3	-	14	1762	c.1649C>T	c.(1648-1650)cCt>cTt	p.P550L	DOCK10_ENST00000258390.7_Missense_Mutation_p.P556L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	556							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAGCAAAAGGCATACGGTA	0.338000													23	30					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150718296	150718296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150718296C>T	ENST00000444312.1	-	5	1017	c.155G>A	c.(154-156)gGg>gAg	p.G52E	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Silent_p.R314R|ATG9B_ENST00000605938.1_Silent_p.R314R|ATG9B_ENST00000377974.2_Silent_p.R314R			Q674R7	ATG9B_HUMAN	autophagy related 9B	566	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGGGCCTCCCTGTAAAACA	0.617000													54	143					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9048913	9048913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9048913G>A	ENST00000457346.2	-	20	2773	c.2699C>T	c.(2698-2700)aCc>aTc	p.T900I	SCUBE2_ENST00000309263.3_Missense_Mutation_p.T871I|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T843I|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	871	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGACGCACAGGTTTTCCGCAT	0.587000													8	19					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2185486	2185486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:2185486G>A	ENST00000381178.1	-	14	1582	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	TH_ENST00000333684.5_Missense_Mutation_p.H401Y|TH_ENST00000352909.3_Missense_Mutation_p.H491Y|TH_ENST00000381175.1_Missense_Mutation_p.H518Y	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	522					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCAGCGCATGGGCAAGGGTG	0.682000													4	9					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671202	186671202	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:186671202G>A	ENST00000343098.5	+	17	17436	c.17436G>A	c.(17434-17436)agG>agA	p.R5812R	FSIP2_ENST00000424728.1_Silent_p.R5723R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGATTAGCAGGGATTCGGCAC	0.368000													17	80					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24742541	24742541	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:24742541A>G	ENST00000379068.3	+	12	1333	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	POLA1_ENST00000379059.3_Silent_p.K424K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	424					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase 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|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TAGCAACAAAATATAAAATTA	0.303000													35	14					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32974436	32974436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32974436C>T	ENST00000340811.4	-	9	1975	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PKP2_ENST00000070846.6_Missense_Mutation_p.E667K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	667					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGCTCTTTTCCTCCGGCATC	0.478000													30	71					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136701038	136701038	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:136701038C>T	ENST00000329582.4	+	3	501	c.252C>T	c.(250-252)atC>atT	p.I84I	IL20RB_ENST00000309741.5_Silent_p.I37I|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000484501.1_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	84	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACATCTGGATCCCCAGCAGCT	0.557000													21	43					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21205628	21205628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:21205628G>A	ENST00000261560.5	+	2	218	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	ZNF430_ENST00000595401.1_Missense_Mutation_p.E13K|ZNF430_ENST00000599548.1_Missense_Mutation_p.E13K	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCTCTCAAGGAAGCAAGTGG	0.453000													22	43					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152417610	152417610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152417610C>T	ENST00000427231.2	-	123	19316	c.19114G>A	c.(19114-19116)Gaa>Aaa	p.E6372K	NEB_ENST00000409198.1_Missense_Mutation_p.E4671K|NEB_ENST00000172853.10_Missense_Mutation_p.E4671K|NEB_ENST00000603639.1_Missense_Mutation_p.E6372K|NEB_ENST00000604864.1_Missense_Mutation_p.E6372K|NEB_ENST00000397345.3_Missense_Mutation_p.E6372K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6373					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.E4671*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGATAATTTTCTTTATATTTT	0.343000													3	21					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445271	92445271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:92445271C>T	ENST00000370389.2	+	8	1949	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	BRDT_ENST00000402388.1_Missense_Mutation_p.S415F|BRDT_ENST00000362005.3_Missense_Mutation_p.S415F|BRDT_ENST00000399546.2_Missense_Mutation_p.S415F|BRDT_ENST00000394530.3_Missense_Mutation_p.S369F	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	415	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGATGATTCTGAAGATGAG	0.393000													29	96					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21544722	21544722	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21544722G>A	ENST00000298694.4	+	7	1964	c.1836_splice	c.e7-1	p.D613_splice	ARHGEF40_ENST00000298693.3_Splice_Site_p.D613_splice			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	613					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCCCTTAGGACTCAGGAGA	0.512000													69	71					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299511	141299511	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141299511G>A	ENST00000389484.3	-	44	8195	c.7224C>T	c.(7222-7224)ttC>ttT	p.F2408F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2408					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAACTGAGGAAAGTCCCTG	0.363000										TSP Lung(27;0.18)			17	24					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714946	55714946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55714946C>T	ENST00000379668.2	+	1	601	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	188					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						CTTGCTTGTTCAGACACAAAA	0.353000													35	49					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40771858	40771858	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40771858C>T	ENST00000372748.3	-	20	1106	c.1008_splice	c.e20-1	p.G337_splice		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	337	Triple-helical region 3 (COL3).				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)			GCCTGGCACACCCTGCAGAAA	0.587000													17	37					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477466	110477466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110477466C>T	ENST00000378402.5	+	49	8509	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2802					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)			GTTGATGGCTCACTTACAGGT	0.378000										HNSCC(38;0.096)			15	25					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	14065	14065	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrM:14065A>G	ENST00000361567.2	+	1	1729	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	577					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CCTCCATCATCACCTCAACCC	0.433000													3	1					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024874	138024874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:138024874C>T	ENST00000383180.2	-	9	662	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	NME9_ENST00000333911.3_Missense_Mutation_p.R203Q|NME9_ENST00000317876.4_Missense_Mutation_p.R142Q|NME9_ENST00000341790.5_Missense_Mutation_p.R140Q|NME9_ENST00000536478.1_Missense_Mutation_p.R142Q|NME9_ENST00000484930.1_Missense_Mutation_p.R140Q	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	203					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTAGAAAAGTCGCACTTCTGC	0.378000													42	122					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165950986	165950986	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:165950986A>G	ENST00000360093.3	-	26	4925	c.4434T>C	c.(4432-4434)ttT>ttC	p.F1478F	SCN3A_ENST00000409101.3_Silent_p.F1429F|SCN3A_ENST00000283254.7_Silent_p.F1478F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1478						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTGACCTCCAAAGTAAAGAC	0.328000													51	70					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111368763	111368763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111368763C>T	ENST00000525791.1	-	3	455	c.271G>A	c.(271-273)Gag>Aag	p.E91K	BTG4_ENST00000356018.2_Missense_Mutation_p.E91K			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	91					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		ATGGTCATCTCCTTCGGAAGT	0.403000													17	47					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559987	210559987	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:210559987C>T	ENST00000360351.4	+	7	3599	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1027S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1031					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGAACCATCCAAAAAGGTGG	0.428000													42	83					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815539	82815539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:82815539G>A	ENST00000265077.3	+	7	1979	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	VCAN_ENST00000342785.4_Missense_Mutation_p.D472N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D424N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	472	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D472N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTATGCTACGGATTCATGGGA	0.418000													43	59					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236086	21236086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21236086G>A	ENST00000233242.1	-	25	4289	c.4162C>T	c.(4162-4164)Cgt>Tgt	p.R1388C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1388			R -> H (in dbSNP:rs13306187).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R1388C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTGGTAACGAGCCCGAAGG	0.527000													67	135					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144133488	144133488	+	Silent	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144133488T>A	ENST00000307017.4	+	8	2021	c.1515T>A	c.(1513-1515)ccT>ccA	p.P505P	USP38_ENST00000510377.1_Silent_p.P505P	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	505					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CATACGCACCTCGGATATTCT	0.383000													40	64					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718697	74718697	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74718697G>A	ENST00000410003.1	+	8	783	c.774G>A	c.(772-774)ctG>ctA	p.L258L	TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.L114L|TTC31_ENST00000233623.5_Silent_p.L258L			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	258							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGGGACTGAACCAGGAGC	0.572000													74	105					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814784	8814784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:8814784C>T	ENST00000447110.1	-	2	152	c.28G>A	c.(28-30)Gag>Aag	p.E10K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E10K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E10K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	10					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATGCGGTCCTCCGTGCATGTC	0.667000													42	32					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43042351	43042351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:43042351G>A	ENST00000316099.3	+	4	492	c.403G>A	c.(403-405)Gac>Aac	p.D135N	HNF4A_ENST00000457232.1_Missense_Mutation_p.D113N|HNF4A_ENST00000415691.1_Missense_Mutation_p.D135N|HNF4A_ENST00000443598.2_Missense_Mutation_p.D135N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	135					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAATGAGCGGGACCGGATCAG	0.622000													18	32					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36335128	36335128	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36335128G>T	ENST00000378910.5	-	16	2088	c.2089C>A	c.(2089-2091)Cgc>Agc	p.R697S	NPHS1_ENST00000353632.6_Missense_Mutation_p.R697S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	697					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAGGATGCGATGCCGGGGG	0.672000													3	35					0.150653	0.150801	1	1	0
GPR153	387509	broad.mit.edu	37	1	6310636	6310636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6310636G>A	ENST00000377893.2	-	5	1287	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATAGTCCAGGGAGCGCTCCAA	0.617000													6	10					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900296	36900296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36900296G>A	ENST00000397224.4	-	4	991	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P300S|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P300S	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	300					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGAATTTCGGGGTGACATGG	0.567000													36	94					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189747	197189747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197189747G>A	ENST00000260983.2	-	6	880	c.698C>T	c.(697-699)tCt>tTt	p.S233F	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	233	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATAGTAGACCGTCTCTC	0.512000													81	185					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38919173	38919173	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:38919173G>C	ENST00000359357.3	+	80	11931	c.11677G>C	c.(11677-11679)Gtt>Ctt	p.V3893L	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.V4110L|DNAH8_ENST00000441566.1_Missense_Mutation_p.V3857L					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						CACAGAACCAGTTATCTTAAA	0.418000													85	173					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36902049	36902049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36902049G>A	ENST00000397224.4	-	2	514	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	FOXRED2_ENST00000216187.6_Nonsense_Mutation_p.Q141*|FOXRED2_ENST00000397223.4_Nonsense_Mutation_p.Q141*	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	141					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGTTGTACTGGACACGGAGC	0.617000													36	57					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32632691	32632691	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:32632691A>G	ENST00000335185.5	-	17	3060	c.3017T>C	c.(3016-3018)tTt>tCt	p.F1006S		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	1006										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGTGGGAAAAGAGGAATC	0.398000													60	103					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:22369419C>T	ENST00000332663.2	+	1	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTAATATTCCCTTTACGTAA	0.378000													21	93					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13543814	13543814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:13543814C>T	ENST00000382438.5	-	2	1440	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	269					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCCAGCAGGTCGGCTGCCATC	0.662000													6	9					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44611980	44611980	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:44611980A>G	ENST00000258772.5	-	5	717	c.611T>C	c.(610-612)gTa>gCa	p.V204A	DDX56_ENST00000431640.1_Missense_Mutation_p.V204A|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	204	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GAGTGCTTGTACGTCCTCGTT	0.488000													13	34					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408225	2408225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:2408225G>A	ENST00000381223.4	-	2	739	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ZBED1_ENST00000381218.3_Missense_Mutation_p.A179V|ZBED1_ENST00000381222.2_Missense_Mutation_p.A179V|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	179						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCCGGACGGCCCCGTACTT	0.627000													120	121					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040950	51040950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:51040950C>T	ENST00000261854.5	-	3	569	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	99	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGGCTTTTTCAAGAAAATGG	0.393000													66	143					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21991911	21991911	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:21991911G>C	ENST00000268379.4	+	13	1932	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	UQCRC2_ENST00000561553.1_Intron	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	390					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	p.E390*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGAGTCTTCTGAGTGTTTCCT	0.443000													16	88					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424095	89424095	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:89424095G>A	ENST00000532352.1	+	0	1558							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						CAGTGTCTATGAAACATATGA	0.368000													10	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:7578211C>T	ENST00000420246.2	-	6	770	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	16					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619146	17619146	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:17619146C>A	ENST00000336737.4	-	8	1062	c.1037G>T	c.(1036-1038)cGg>cTg	p.R346L	CECR5_ENST00000399852.3_Missense_Mutation_p.R146L|CECR5_ENST00000155674.5_Missense_Mutation_p.R316L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	346							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGTTGCTGCCGTGTGCCCCC	0.597000													33	50					1.836e-18	1.86399e-18	1	1	0
VASH1	22846	broad.mit.edu	37	14	77236309	77236309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:77236309C>T	ENST00000167106.4	+	2	946	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	VASH1_ENST00000554237.1_Missense_Mutation_p.P105S|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	105					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TCCCCAGATCCCCATACCGAG	0.602000													55	52					0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370324	65370324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65370324G>A	ENST00000432196.2	+	1	1171	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	391						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CAACAGCAAGGGAGCGCTCTT	0.657000													18	38					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001157	58001157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:58001157G>A	ENST00000564448.1	-	2	94	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	CNGB1_ENST00000311183.4_Missense_Mutation_p.P12S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P12S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	12					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCCCTGGGGGCTGAGGCAGC	0.602000													29	34					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779289	159779289	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159779289C>T	ENST00000321935.6	+	6	809	c.723C>T	c.(721-723)tcC>tcT	p.S241S	FCRL6_ENST00000392235.3_Silent_p.S139S|FCRL6_ENST00000368106.3_Silent_p.S234S|FCRL6_ENST00000339348.5_Silent_p.S234S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	234	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAGGGGCTCCCCTCCGATCC	0.597000													34	66					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24530369	24530369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24530369C>T	ENST00000398319.2	+	29	5118	c.4733C>T	c.(4732-4734)aCc>aTc	p.T1578I	CABIN1_ENST00000263119.5_Missense_Mutation_p.T1578I|CABIN1_ENST00000405822.2_Missense_Mutation_p.T1499I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1578					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAACAAGACCAATTTCTTC	0.542000													22	31					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285825	223285825	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:223285825G>A	ENST00000540964.1	-	4	1010	c.549C>T	c.(547-549)ttC>ttT	p.F183F	TLR5_ENST00000342210.6_Silent_p.F183F			O60602	TLR5_HUMAN	toll-like receptor 5	183					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CACATACAAGGAATATTTGGT	0.423000													16	63					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99786792	99786792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:99786792G>A	ENST00000524871.1	+	7	874	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CNTN5_ENST00000527185.1_Missense_Mutation_p.G195E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G195E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G121E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G195E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	195					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G195E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGATCTGGGAAATTTTAGT	0.423000													5	10					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058213	11058213	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:11058213G>A	ENST00000470054.1	-	0	434									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)		AGATGTGACTGAAATCCTGAA	0.408000													15	59					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247473702	247473702	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:247473702G>A	ENST00000294753.4	-	6	1172	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.S272S	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	236	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GATCTAGAAGGGACCAATCCT	0.507000													15	49					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398000													33	51					0	0	1	0	0
LOC93432	93432	broad.mit.edu	37	7	141896609	141896609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141896609G>A	ENST00000477922.3	+	40	4679	c.4625G>A	c.(4624-4626)gGg>gAg	p.G1542E																	endometrium(1)|lung(5)	6						AACAACATCGGGACAAGGGTG	0.438000													16	16					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38831715	38831715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:38831715C>T	ENST00000359357.3	+	43	5980	c.5726C>T	c.(5725-5727)tCa>tTa	p.S1909L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2126L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1909L					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						CCTGTATTATCAGTGGCAGCA	0.343000													40	73					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417125	78417125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:78417125G>A	ENST00000274353.5	+	5	669	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	188	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATGTGCATTGGCCCAGAAGG	0.488000													60	72					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100119	168100119	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168100119A>T	ENST00000409195.1	+	9	2306	c.2217A>T	c.(2215-2217)caA>caT	p.Q739H	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q739H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q517H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	564					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						TCGAAACTCAACCATTATATG	0.378000													15	44					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22078907	22078907	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:22078907G>A	ENST00000261200.4	-	3	374	c.375C>T	c.(373-375)atC>atT	p.I125I	ABCC9_ENST00000538350.1_Silent_p.I125I|ABCC9_ENST00000345162.2_Silent_p.I125I|ABCC9_ENST00000261201.4_Silent_p.I125I|ABCC9_ENST00000326684.4_Silent_p.I125I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	125					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	p.I125I(2)		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)	TTGATGTTTCGATATTATGAT	0.383000													25	47					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872537	111872537	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:111872537C>T	ENST00000277900.8	+	3	563	c.198C>T	c.(196-198)gcC>gcT	p.A66A	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Silent_p.A66A|ADD3_ENST00000360162.3_Silent_p.A66A	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	66						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TATTACAGGCCTTTCGGGAAG	0.408000													22	41					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950285	45950285	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45950285C>T	ENST00000531526.1	+	14	2166	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	GYLTL1B_ENST00000401752.1_Silent_p.C685C|GYLTL1B_ENST00000325468.5_Silent_p.C685C|GYLTL1B_ENST00000529052.1_Silent_p.C654C|GYLTL1B_ENST00000536139.1_Silent_p.C654C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	685					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATCGTGACTGCCTCCAGGCCC	0.647000													21	85					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322862	31322862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:31322862C>T	ENST00000269197.5	+	12	3050	c.3050C>T	c.(3049-3051)tCc>tTc	p.S1017F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1017					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						ATTCAGCTTTCCAAAATTGGG	0.433000													9	13					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949968	38949968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38949968G>A	ENST00000355481.4	+	19	2481	c.2350G>A	c.(2350-2352)Gct>Act	p.A784T	RYR1_ENST00000360985.3_Missense_Mutation_p.A784T|RYR1_ENST00000359596.3_Missense_Mutation_p.A784T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	784	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCTTCTCGGCTGGTGTCAA	0.612000													14	33					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48026965	48026965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:48026965G>A	ENST00000453192.2	-	11	1243	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	SUN3_ENST00000395572.2_Nonsense_Mutation_p.R346*|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Nonsense_Mutation_p.R258*|SUN3_ENST00000297325.4_Nonsense_Mutation_p.R346*			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	346	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTGAATCGATATAAACAA	0.383000													61	121					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964835	6964835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6964835G>A	ENST00000278319.5	+	6	1263	c.675G>A	c.(673-675)tgG>tgA	p.W225*	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.W225*|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W225*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	225	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAAAAGATGGATAATGGAGA	0.343000													19	67					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089068	32089068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32089068G>A	ENST00000375201.4	-	6	572	c.527C>T	c.(526-528)tCc>tTc	p.S176F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S179F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	179					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAGAGCAGGGAGGCCTCAGA	0.527000													14	25					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171455442	171455442	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:171455442G>A	ENST00000356327.5	-	3	238	c.168C>T	c.(166-168)atC>atT	p.I56I	PLD1_ENST00000342215.6_Silent_p.I56I|PLD1_ENST00000351298.4_Silent_p.I56I|PLD1_ENST00000340989.4_Silent_p.I56I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	56					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGAGAAAGGGATATACACTA	0.328000													10	9					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836870	116836870	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:116836870G>C	ENST00000368599.3	+	2	699	c.648G>C	c.(646-648)aaG>aaC	p.K216N	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	216						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GTTTTTGGAAGACATATGCAC	0.428000													47	86					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67237733	67237733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67237733C>T	ENST00000393997.2	+	20	2332	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	ELMO3_ENST00000360833.1_Missense_Mutation_p.P742S|ELMO3_ENST00000477898.1_Missense_Mutation_p.P593S	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	706					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCCCCCACCCCCCACCAACTT	0.642000													12	34					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546427	112546427	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:112546427C>A	ENST00000488794.1	-	5	743	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	CD200R1L_ENST00000398214.1_Missense_Mutation_p.G73C|CD200R1L_ENST00000448932.1_Missense_Mutation_p.G52C			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	73	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GAAGGCTGGCCTCTCAGGATT	0.413000													32	81					3.11337e-16	3.15456e-16	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825009	52825009	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52825009A>C	ENST00000595962.1	+	5	572	c.506A>C	c.(505-507)gAa>gCa	p.E169A	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.E126A|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.E92A	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTCTTCAAGAAATGTCTTCC	0.363000													26	31					0	0	1	0	0
SLURP1	57152	broad.mit.edu	37	8	143823794	143823794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143823794G>A	ENST00000246515.1	-	1	35	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	4					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCCAGCGAGAGGCCATT	0.642000													27	43					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43662611	43662611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:43662611C>T	ENST00000378069.4	-	4	467	c.320G>A	c.(319-321)tGg>tAg	p.W107*	MAOB_ENST00000536181.1_Nonsense_Mutation_p.W91*|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W91*|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	107					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	AATTGGATTCCATACAGGTGG	0.368000													34	20					0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722505	150722505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150722505G>A	ENST00000368985.3	-	6	1030	c.770C>T	c.(769-771)cCt>cTt	p.P257L	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.P207L	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	257					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGAAAGAAGGATGACGCGC	0.398000													18	47					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37922608G>A	ENST00000346872.3	-	8	1026	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_ENST00000351680.3_Missense_Mutation_p.P283L|IKZF3_ENST00000350532.3_Missense_Mutation_p.P283L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P75L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P235L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P244L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P288L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P179L|IKZF3_ENST00000467757.1_Missense_Mutation_p.P266L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P188L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P249L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P227L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P140L|IKZF3_ENST00000377952.2_Missense_Mutation_p.P101L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	322					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)			CTGGACCAAGGGGCGCAGGGC	0.557000													46	63					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681469	67681469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67681469G>A	ENST00000334583.6	+	11	1163	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RLTPR_ENST00000545661.1_Missense_Mutation_p.E279K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	279										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGCTGCGGGAGCTCAGCCT	0.657000													7	13					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112192	248112192	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248112192C>T	ENST00000357191.3	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAACTGATTTCATCTTATTGG	0.378000													33	78					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620125	28620125	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28620125C>G	ENST00000395609.1	-	4	810	c.52G>C	c.(52-54)Gtc>Ctc	p.V18L	SULT1A1_ENST00000395607.1_Missense_Mutation_p.V18L|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.V18L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.V18L			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	18					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ATGAGCGGGACCCCCTTCACG	0.632000													10	90					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046165	116046165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:116046165G>A	ENST00000603594.1	+	11	1786	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	VWA2_ENST00000392982.3_Missense_Mutation_p.E489K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	489	VWFA 2.					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)		AGAGCTGGAGGAGATCACAGG	0.632000													38	77					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814214	3814214	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3814214G>A	ENST00000315677.3	-	5	1612	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	DLGAP1_ENST00000400149.3_Silent_p.C47C|DLGAP1_ENST00000400145.2_Silent_p.C37C|DLGAP1_ENST00000581699.1_Silent_p.C45C|DLGAP1_ENST00000515196.2_Silent_p.C339C|DLGAP1_ENST00000400150.3_Silent_p.C45C|DLGAP1_ENST00000400147.2_Silent_p.C37C|DLGAP1_ENST00000539435.1_Silent_p.C37C|DLGAP1_ENST00000534970.1_Silent_p.C51C|DLGAP1_ENST00000400155.1_Silent_p.C45C|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000584874.1_Silent_p.C339C|DLGAP1_ENST00000581527.1_Silent_p.C339C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	339					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCATTCTTCGGCATGGAATTT	0.453000													53	122					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967546	41967546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:41967546G>A	ENST00000298919.7	+	10	2573	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E989K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E731K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	989							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)				CAATATCATTGAACTGAGTCA	0.478000													13	22					0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527506	51527506	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51527506G>A	ENST00000594768.1	-	4	539	c.354C>T	c.(352-354)acC>acT	p.T118T	KLK11_ENST00000319720.7_Silent_p.T86T|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Silent_p.T86T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Silent_p.T111T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	118	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGGCTGTCCGGGTCTGCTCAC	0.592000													28	103					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908923	158908923	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158908923C>T	ENST00000368140.1	+	4	710	c.465C>T	c.(463-465)tcC>tcT	p.S155S	PYHIN1_ENST00000368138.3_Silent_p.S146S|PYHIN1_ENST00000368135.4_Silent_p.S155S|PYHIN1_ENST00000392254.2_Silent_p.S155S|PYHIN1_ENST00000392252.3_Silent_p.S146S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	155					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTAAGATGTCCAAAGAGCAGA	0.468000													32	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056568	9056568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9056568C>T	ENST00000397910.4	-	3	31081	c.30878G>A	c.(30877-30879)gGa>gAa	p.G10293E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10295	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						TCGTGGAACTCCAGTGGTGGC	0.517000													13	84					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885978	20885978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:20885978C>T	ENST00000381552.1	+	10	1690	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S441F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S392F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S441F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S323F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	441					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTATTTCTTTCCCTGTTTGCA	0.418000													73	140					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706374	241706374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:241706374C>A	ENST00000498729.2	-	19	1888	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	KIF1A_ENST00000320389.7_Nonsense_Mutation_p.E539*	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	539	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.E539K(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGCAGTGCTCCTCCTTGATG	0.652000													15	24					1.67942e-08	1.69323e-08	1	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12847413	12847413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:12847413G>A	ENST00000379672.5	+	10	1061	c.761G>A	c.(760-762)gGg>gAg	p.G254E	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G254E|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G254E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	254					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						CCTTCCTTCGGGAAGCCGCTG	0.587000													8	6					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124109	103124109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:103124109C>T	ENST00000375735.2	+	66	10282	c.10138C>T	c.(10138-10140)Cca>Tca	p.P3380S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3387S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3380	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTTTTATTCCACCGGATGC	0.363000													20	38					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496835	216496835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:216496835C>T	ENST00000366943.2	-	8	1917	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	USH2A_ENST00000366942.3_Missense_Mutation_p.E511K|USH2A_ENST00000307340.3_Missense_Mutation_p.E511K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	511	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGGTGATTTCGTCCACTGCA	0.378000										HNSCC(13;0.011)			38	76					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165791	51165791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51165791C>T	ENST00000293441.1	-	23	5935	c.5917G>A	c.(5917-5919)Gcc>Acc	p.A1973T	SHANK1_ENST00000391814.1_Missense_Mutation_p.A1981T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A1360T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A1964T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'UTR	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1973	Poly-Ser.				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)		GAGGAGGAGGCTGAGGGTGAG	0.721000													3	10					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77754364	77754364	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:77754364C>T	ENST00000407578.2	-	34	5297	c.5031G>A	c.(5029-5031)ctG>ctA	p.L1677L	MYCBP2_ENST00000544440.2_Silent_p.L1639L|MYCBP2_ENST00000357337.6_Silent_p.L1639L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1639					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)		TTTCTCTCCTCAGGCTGTTCC	0.493000													64	53					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020339	30020339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30020339C>T	ENST00000350119.4	-	5	695	c.505G>A	c.(505-507)Gac>Aac	p.D169N	DOC2A_ENST00000564979.1_Missense_Mutation_p.D169N|DOC2A_ENST00000564944.1_Missense_Mutation_p.D169N	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	169	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGCGTGATGTCGTCATCTGTG	0.557000													16	81					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540497	169540497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:169540497G>A	ENST00000340806.6	+	1	788	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	263										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACGGAAATCGGGCTGAGCGGG	0.607000													22	15					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	212002626	212002626	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212002626A>G	ENST00000366997.4	-	2	239	c.13T>C	c.(13-15)Ttg>Ctg	p.L5L	LPGAT1_ENST00000366996.1_Silent_p.L5L|LPGAT1_ENST00000488600.1_5'UTR	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	5					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GCTTCTTCCAAAGTTATAGCC	0.438000													65	112					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128445	152128445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152128445G>A	ENST00000316073.3	-	3	1194	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	377	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						ACCATAGTGGGAACTCTGACC	0.468000													375	797					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569209	127569209	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:127569209A>G	ENST00000284690.3	-	1	675	c.185T>C	c.(184-186)cTt>cCt	p.L62P	DHX32_ENST00000284688.6_Missense_Mutation_p.L62P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	62						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCATATAGGAAGATCTTCTCT	0.388000													19	33					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558692	140558692	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140558692G>A	ENST00000239444.2	+	1	1322	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		359	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATACCTGAGAATGCGCCTG	0.453000													25	183					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894361	166894361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166894361C>T	ENST00000423058.2	-	15	2888	c.2871G>A	c.(2869-2871)tgG>tgA	p.W957*	SCN1A_ENST00000303395.4_Nonsense_Mutation_p.W957*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W929*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W946*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	957			W -> L (in SMEI; dbSNP:rs121917917).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATACAGTCCCACATGGTCT	0.493000													65	201					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680182	42680182	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42680182C>T	ENST00000358131.5	+	4	883	c.675C>T	c.(673-675)ttC>ttT	p.F225F	TOX2_ENST00000372999.1_Silent_p.F174F|TOX2_ENST00000341197.3_Silent_p.F216F|TOX2_ENST00000423191.1_Silent_p.F174F|TOX2_ENST00000435864.2_Silent_p.F94F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGTGCATTTCAAGGTATGTG	0.612000													26	37					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459307	89459307	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:89459307G>A	ENST00000390256.2	-	0	333																											TGGTGAGGGTGAAATCTGTCC	0.478000													61	128					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126272230	126272230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:126272230C>T	ENST00000318225.2	-	2	382	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	2										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GCACTGGAGTCCATCACTGAG	0.582000													109	164					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699004	49699004	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49699004G>A	ENST00000296452.4	+	6	9840	c.9726G>A	c.(9724-9726)aaG>aaA	p.K3242K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3242					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)		AACTGACCAAGGACAGCACCT	0.582000													48	142					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328206	48328206	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:48328206G>A	ENST00000319988.1	+	1	432	c.432G>A	c.(430-432)ggG>ggA	p.G144G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGCTAGCGGGGGCCTCCTGGT	0.567000													10	49					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916530	97916530	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:97916530C>T	ENST00000534948.1	+	0	1308							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACCTTCATATCCTTGTGAAAT	0.368000													39	115					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:73063804G>A	ENST00000429829.1	-	0	8784					NR_001564.2																						GCCTTGGAGGGAAACAGTATA	0.383000													7	3					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232296	81232296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81232296C>T	ENST00000599697.1	-	7	1513	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	505	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGCAAATCCCAAATGGCTC	0.572000													9	37					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113344883	113344883	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113344883C>A	ENST00000452357.2	+	1	229	c.39C>A	c.(37-39)gaC>gaA	p.D13E	OAS1_ENST00000445409.2_Missense_Mutation_p.D13E|OAS1_ENST00000551241.1_Missense_Mutation_p.D13E|OAS1_ENST00000202917.5_Missense_Mutation_p.D13E|OAS1_ENST00000553185.1_Missense_Mutation_p.D13E	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	13					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AATCTCTGGACAAGTTCATTG	0.473000													76	121					5.62478e-27	5.75822e-27	1	1	0
ATG9B	285973	broad.mit.edu	37	7	150720281	150720281	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150720281G>A	ENST00000605938.1	-	4	747	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Silent_p.F224F|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.F224F	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	224					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGACAATGAAAATAAATT	0.567000													183	176					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823884	47823884	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:47823884C>T	ENST00000355085.3	+	2	872	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	284					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GCTGGACTCCCTGTGTGTCTC	0.567000													58	79					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416454	48416454	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:48416454T>A	ENST00000249598.1	-	1	399	c.240A>T	c.(238-240)aaA>aaT	p.K80N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	80					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCACCCTGGTTTTGTCCTGCG	0.552000													33	55					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29618381	29618381	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29618381G>A	ENST00000373779.3	+	15	2448	c.2318_splice	c.e15-1	p.G773_splice	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Splice_Site_p.P783_splice|PTPRU_ENST00000428026.2_Splice_Site_p.G773_splice|PTPRU_ENST00000323874.8_Splice_Site_p.G773_splice|PTPRU_ENST00000460170.2_Splice_Site_p.G773_splice|PTPRU_ENST00000356870.3_Splice_Site_p.G773_splice	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	773	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTCTCCAGGAAGCCGGTGA	0.632000													12	24					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990997	47990997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:47990997G>A	ENST00000371741.4	-	2	1266	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	367					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACCAGAAAGAGGCTGGGAT	0.507000													29	59					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053673	157053673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:157053673G>A	ENST00000311371.5	-	4	1729	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	SOX30_ENST00000265007.6_Missense_Mutation_p.P646L|SOX30_ENST00000519442.1_Missense_Mutation_p.P341L	NM_007017.2	NP_008948.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	0					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)			AAGGCATTCTGGCATTGAACT	0.398000													18	21					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3277816	3277816	+	Missense_Mutation	SNP	T	T	C	rs144447000		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3277816T>C	ENST00000581193.1	+	4	783	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	MYL12B_ENST00000584539.1_Missense_Mutation_p.F134L|MYL12B_ENST00000400175.5_Missense_Mutation_p.F134L|MYL12B_ENST00000237500.5_Missense_Mutation_p.F134L	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	134	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GGGGGATCGGTTTACAGATGA	0.448000													14	43					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072455	20072455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:20072455C>T	ENST00000276390.2	+	10	1094	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	352					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TACTCAAATCCCTATTCTAAC	0.418000													50	92					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32942256	32942256	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32942256A>T	ENST00000443797.2	+	0	1596				BRD2_ENST00000395289.2_Missense_Mutation_p.N16I|BRD2_ENST00000374831.4_Missense_Mutation_p.N16I|BRD2_ENST00000395287.1_Missense_Mutation_p.N16I|BRD2_ENST00000374825.4_Missense_Mutation_p.N16I|BRD2_ENST00000449085.2_De_novo_Start_OutOfFrame			P25440	BRD2_HUMAN	bromodomain containing 2						spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGGGAAGGGAATGCAGGGTTG	0.512000													52	118					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825277	43825277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43825277C>T	ENST00000389420.3	-	22	3118	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G194E|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1040E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1040	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTTGTTCCTTTACCACA	0.383000													64	114					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997319	173997319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:173997319C>T	ENST00000457714.1	+	6	1957	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	NLGN1_ENST00000545397.1_Missense_Mutation_p.P510S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P510S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P550S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	527					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACGAGGTTCCCTATGTACT	0.458000													29	20					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302276	209302276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:209302276C>T	ENST00000272847.2	+	3	406	c.193C>T	c.(193-195)Cct>Tct	p.P65S	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	65						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TAATTGTTTCCCTGAATGGGA	0.338000													17	45					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14770666	14770666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14770666C>T	ENST00000380881.4	-	27	5814	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.D1666N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1666N|FREM1_ENST00000380894.1_Missense_Mutation_p.D202N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1666					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)		ATGATCTGATCGTCCTCAGTG	0.458000													36	28					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17740067	17740067	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17740067G>A	ENST00000428389.2	-	32	3998	c.3999C>T	c.(3997-3999)tcC>tcT	p.S1333S	UNC13A_ENST00000519716.2_Silent_p.S1245S|UNC13A_ENST00000551649.1_Silent_p.S1245S|UNC13A_ENST00000552293.1_Silent_p.S1245S|UNC13A_ENST00000550896.1_Silent_p.S1243S|UNC13A_ENST00000252773.7_Silent_p.S1245S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1245					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTTCTCCTTGGAGCAGTAGG	0.577000													8	5					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:26714877G>A	ENST00000381340.3	-	35	5055	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1547					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAATTCCACGATTTTTTGCT	0.323000													12	38					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94066598	94066598	+	Silent	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:94066598T>A	ENST00000369303.4	-	5	1345	c.1161A>T	c.(1159-1161)ggA>ggT	p.G387G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	387	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGGCATGTATCCAATGTTAC	0.473000													20	30					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514505	79514505	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:79514505A>G	ENST00000537152.1	-	5	1675	c.1150T>C	c.(1150-1152)Ttc>Ctc	p.F384L	C17orf70_ENST00000425898.2_Missense_Mutation_p.F184L|C17orf70_ENST00000327787.8_Missense_Mutation_p.F535L	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	535					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGCTGAAGCTGCTGCTG	0.647000													82	101					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53420459	53420459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:53420459G>A	ENST00000371514.3	+	5	547	c.379G>A	c.(379-381)Gga>Aga	p.G127R	SCP2_ENST00000371513.5_Missense_Mutation_p.G83R|SCP2_ENST00000371509.4_Missense_Mutation_p.G83R|SCP2_ENST00000528311.1_Missense_Mutation_p.G46R|SCP2_ENST00000407246.2_Missense_Mutation_p.G103R	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	127					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GATGAGTAAGGGAAGCCTTGG	0.343000													37	79					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710238	55710238	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55710238T>C	ENST00000376350.3	-	8	1485	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	PTPRH_ENST00000263434.5_Missense_Mutation_p.N310S|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	488	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AATGGTGCTGTTGGTCCAGTC	0.592000													17	28					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94039822	94039822	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:94039822C>T	ENST00000440961.2	+	2	326	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	94						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCAGGCTATCTGCTTCTATG	0.562000													28	54					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799655	133799655	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:133799655G>A	ENST00000372338.4	-	3	923	c.681C>T	c.(679-681)gcC>gcT	p.A227A	FIBCD1_ENST00000372337.2_Silent_p.A69A|FIBCD1_ENST00000448616.1_Silent_p.A227A|FIBCD1_ENST00000253018.4_Silent_p.A69A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	227					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGGTTCCCCGGGCAGGCGCTC	0.721000													10	6					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70954989	70954989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:70954989C>T	ENST00000359655.4	+	7	959	c.899C>T	c.(898-900)gCc>gTc	p.A300V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	300	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAGATCCAGCCAGAGGATGG	0.373000													11	46					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493534	27493534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:27493534G>A	ENST00000527372.1	-	2	605	c.425C>T	c.(424-426)tCc>tTc	p.S142F	MYO18A_ENST00000531253.1_Missense_Mutation_p.S142F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S142F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S142F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	142					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTACGCTGGGAGAAGGAAAA	0.622000													13	11					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026348	79026348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026348C>T	ENST00000446378.2	+	2	1791	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	587	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATTGCATCTGTTTCTACT	0.423000													37	204					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201352246C>T	ENST00000391967.2	-	7	1643	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Missense_Mutation_p.E462K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000													66	127					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658916	49658916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49658916C>T	ENST00000249601.4	-	9	1552	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G329E|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G435E|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G260E|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G252E|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G425E|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G310E	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	419					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						CACCTTCTTCCCAGGGCTGCA	0.726000													5	15					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573512	56573512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56573512C>T	ENST00000323456.5	-	16	2115	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	MTMR4_ENST00000579925.1_Missense_Mutation_p.G607E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	664						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGGCCCTCCTACCCCAGA	0.532000													54	66					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54278258	54278258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:54278258G>A	ENST00000217515.6	-	7	1010	c.806C>T	c.(805-807)cCa>cTa	p.P269L	TXNL1_ENST00000540155.1_Missense_Mutation_p.P146L|TXNL1_ENST00000590954.1_Missense_Mutation_p.P269L	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	269	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGCCTGGACTGGAGTACCAAT	0.279000													28	36					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096114	178096114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:178096114G>A	ENST00000397062.3	-	5	1771	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	NFE2L2_ENST00000464747.1_Missense_Mutation_p.P390L|NFE2L2_ENST00000446151.2_Missense_Mutation_p.P383L|NFE2L2_ENST00000397063.4_Missense_Mutation_p.P390L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	406					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGTGACAAGGGTTGTACCAT	0.483000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			38	94					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173567	112173567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:112173567C>T	ENST00000457016.1	+	16	2656	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	APC_ENST00000508376.2_Missense_Mutation_p.A759V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A759V			P25054	APC_HUMAN	adenomatous polyposis coli	759	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAACAAAAAGCCCTAGAAGCA	0.408000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	28					0	0	1	0	0
MIR496	574454	broad.mit.edu	37	14	101526986	101526986	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101526986C>T	ENST00000385226.1	+	0	77					NR_030176.1																						TGGCCAATCTCCTTTCGGTAC	0.527000													9	9					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180158693	180158693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:180158693C>T	ENST00000367602.3	+	9	1098	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	QSOX1_ENST00000367600.5_Missense_Mutation_p.P342S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	342					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAGTATTTCCCTGGCCGGCC	0.502000													150	236					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875730	51875730	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51875730C>T	ENST00000221978.5	-	1	239	c.60G>A	c.(58-60)ctG>ctA	p.L20L	NKG7_ENST00000600427.1_Silent_p.L20L|NKG7_ENST00000595217.1_Silent_p.L20L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	20						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAAGCAATCAGGCAGAACA	0.612000													26	62					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990529	233990529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:233990529G>A	ENST00000359570.5	+	4	424	c.424G>A	c.(424-426)Gag>Aag	p.E142K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E142K|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	142					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)		TGAGGCCAAGGAGGTTCCTTT	0.582000													17	16					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847190	159847190	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159847190G>A	ENST00000426543.2	-	9	1307	c.852C>T	c.(850-852)atC>atT	p.I284I	CCDC19_ENST00000368099.4_Silent_p.I369I|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	369						mitochondrion|soluble fraction		p.I369I(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCAAGCGTGCGATCTCCTTCT	0.542000													167	237					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732331	2732331	+	Silent	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:2732331A>T	ENST00000320876.6	+	25	3455	c.3117A>T	c.(3115-3117)ctA>ctT	p.L1039L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L1039L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1039					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGCAAGACTACAAATATTCA	0.373000													49	82					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40956392	40956392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:40956392G>A	ENST00000588408.1	+	3	671	c.395G>A	c.(394-396)aGc>aAc	p.S132N	CNTD1_ENST00000588527.1_Missense_Mutation_p.S49N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	132	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGGCCAGCAAACTTTCC	0.473000													52	120					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167159615	167159615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167159615C>T	ENST00000375387.4	-	7	1229	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SCN9A_ENST00000409672.1_Missense_Mutation_p.E296K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E296K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E297K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	296						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)	AAGTCTTCTTCACTCTCTAGG	0.308000													5	7					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295862	20295862	+	Silent	SNP	C	C	T	rs139052676	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20295862C>T	ENST00000568211.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR4N2_ENST00000315947.1_Silent_p.F85F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGACTTCCTCTCTGCGA	0.527000													72	200					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745695	72745695	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:72745695G>A	ENST00000252037.4	+	5	573	c.504G>A	c.(502-504)ctG>ctA	p.L168L	FKBP6_ENST00000413573.2_Silent_p.L138L|FKBP6_ENST00000431982.2_Silent_p.L163L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	168					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGAAGGTCCTGAAAGTGGCAG	0.453000													38	94					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359225	66359225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66359225G>A	ENST00000333861.3	-	1	1329	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	421										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTGGAAAGGATTTGGGGGG	0.567000													13	34					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49456141	49456141	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:49456141T>C	ENST00000335783.3	+	7	648	c.554T>C	c.(553-555)aTt>aCt	p.I185T		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	185					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAAATTCAGATTCTGGCAAGT	0.313000													20	63					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832582	130832582	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:130832582C>T	ENST00000357462.5	-	15	2556	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	POTEF_ENST00000409914.2_Silent_p.Q821Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	821	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAACATGATCTGGGTCATCT	0.592000													86	213					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115762	5115762	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:5115762G>A	ENST00000315997.5	-	1	349	c.148C>T	c.(148-150)Cta>Tta	p.L50L	C16orf89_ENST00000422873.1_Silent_p.L88L|C16orf89_ENST00000474471.3_Silent_p.L50L|C16orf89_ENST00000350219.4_Silent_p.L88L|C16orf89_ENST00000472572.3_Silent_p.L50L|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	50						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						CTCTGTTCTAGGAAGACGGTG	0.587000													16	75					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964834	6964834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6964834G>A	ENST00000278319.5	+	6	1262	c.674G>A	c.(673-675)tGg>tAg	p.W225*	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.W225*|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W225*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	225	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAAAAAGATGGATAATGGAG	0.343000													18	67					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9547019G>A	ENST00000378429.3	-	6	1549	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537000													51	149					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076679	6076679	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6076679C>T	ENST00000261405.5	-	47	8114	c.7860G>A	c.(7858-7860)agG>agA	p.R2620R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2620	VWFC 3.				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)	AGGTGGTCTTCCTGCACTCCA	0.622000													80	139					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280494	10280494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10280494G>A	ENST00000256458.4	+	12	1626	c.1536G>A	c.(1534-1536)tgG>tgA	p.W512*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	512					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGCTCCCTTGGAGTGGGCTTT	0.562000													45	73					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018124	101018124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101018124C>T	ENST00000537247.1	+	10	2183	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S514F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S514F|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S514F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	514					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAACCTTCTTTCCAGTCC	0.438000													32	44					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44868783	44868783	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:44868783T>C	ENST00000374429.2	-	4	361	c.275A>G	c.(274-276)aAg>aGg	p.K92R	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	92					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTCTCACATCTTGAACCTCCT	0.607000													7	9					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761054	92761054	+	Nonsense_Mutation	SNP	G	G	A	rs4729075		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:92761054G>A	ENST00000318238.4	-	5	5447	c.4231C>T	c.(4231-4233)Cga>Tga	p.R1411*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R1411*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R1411*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1411								p.R1411*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACCTCTCGGAGTTGTTTT	0.398000													139	130					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701764	81701764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:81701764C>T	ENST00000372292.3	-	5	536	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	166	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCTCGCTCTCCCTTAGGGCCT	0.612000													34	70					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922646	17922646	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17922646C>T	ENST00000318683.6	+	3	981	c.834C>T	c.(832-834)ttC>ttT	p.F278F	B3GNT3_ENST00000595387.1_Silent_p.F278F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	278					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGTCCCGCTTCACGGCCGCTG	0.577000													9	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179623868	179623868	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179623868C>T	ENST00000589042.1	-	44	10370	c.10146G>A	c.(10144-10146)aaG>aaA	p.K3382K	TTN_ENST00000460472.2_Silent_p.K3336K|TTN_ENST00000342992.6_Silent_p.K3382K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K3336K|TTN_ENST00000591111.1_Silent_p.K3382K|TTN_ENST00000342175.6_Silent_p.K3336K|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.K3382K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3095	Ig-like 20.						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)			GCTTGATTTTCTTGTCTTTGC	0.373000													32	51					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910263	14910263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:14910263G>A	ENST00000248073.2	-	1	760	c.686C>T	c.(685-687)tCc>tTc	p.S229F	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	229					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCCAGCTGAGGAAATCCTCAG	0.448000													23	18					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150733220	150733220	+	Silent	SNP	C	C	T	rs148169229		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150733220C>T	ENST00000358849.4	+	8	1167	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ABCB8_ENST00000356058.4_Silent_p.I395I|ABCB8_ENST00000477719.1_Silent_p.I358I|ABCB8_ENST00000498578.1_Silent_p.I358I|ABCB8_ENST00000542328.1_Silent_p.I270I|ABCB8_ENST00000477092.1_Silent_p.I358I|ABCB8_ENST00000297504.6_Silent_p.I375I	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	375	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGGCATCGCCTTGTTCC	0.652000													10	33					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215862524	215862524	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:215862524G>A	ENST00000272895.7	-	23	3408	c.3189C>T	c.(3187-3189)acC>acT	p.T1063T	ABCA12_ENST00000389661.4_Silent_p.T745T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1063					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)		AAGAGACACTGGTTAGGAAGC	0.363000													14	37					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031725	36031725	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36031725C>T	ENST00000373578.2	+	14	1903	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SRC_ENST00000373567.2_Silent_p.F518F|SRC_ENST00000445403.1_Silent_p.F518F|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Silent_p.F524F|SRC_ENST00000358208.4_Silent_p.F518F|SRC_ENST00000360723.4_Silent_p.F524F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	518	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGCAGGCCTTCCTGGAGGACT	0.677000													7	11					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173127	126173127	+	Missense_Mutation	SNP	G	G	C	rs147639816		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126173127G>C	ENST00000339582.2	-	9	3117	c.2309C>G	c.(2308-2310)aCg>aGg	p.T770R	GRM8_ENST00000358373.3_Missense_Mutation_p.T770R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.T770R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	770					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)	GACACCTCTCGTTTTAATGGC	0.413000										HNSCC(24;0.065)			47	30					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158565364	158565364	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:158565364A>G	ENST00000367102.2	-	7	717	c.576T>C	c.(574-576)ttT>ttC	p.F192F	SERAC1_ENST00000367101.1_Silent_p.F192F|SERAC1_ENST00000367104.3_Silent_p.F192F			Q96JX3	SRAC1_HUMAN	serine active site containing 1	192					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTGGTAGGAGAAAAAAGCGAA	0.338000													28	63					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486956	94486956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:94486956G>A	ENST00000375708.3	-	9	2018	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	ROR2_ENST00000375715.1_Missense_Mutation_p.S467F|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	607	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGTGGCTGGATAGGTACTC	0.612000													68	34					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249538	238249538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:238249538G>A	ENST00000295550.4	-	38	8473	c.8021C>T	c.(8020-8022)tCc>tTc	p.S2674F	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2473F|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2067F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2474F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2468F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2468F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2674	Nonhelical region.|VWFA 12.				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)		ATTGTCCACGGACTCAGAGGG	0.572000													22	49					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025222	34025222	+	Missense_Mutation	SNP	G	G	A	rs34534075	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34025222G>A	ENST00000374372.1	-	3	990	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	GDF5_ENST00000374369.3_Missense_Mutation_p.R163C			P43026	GDF5_HUMAN	growth differentiation factor 5	163			R -> G (in dbSNP:rs34534075).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGGGTGGGCGAAACGGCTCC	0.637000													56	89					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	RNA	SNP	G	G	A	rs115439852	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:70713742G>A	ENST00000530196.1	-	0	776					NR_003951.1																						CCACAACAACGAGCTCCAGAA	0.433000													6	61					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712758	128712758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128712758G>A	ENST00000357702.5	-	16	2433	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	SAP130_ENST00000259234.6_Missense_Mutation_p.P741S|SAP130_ENST00000259235.3_Missense_Mutation_p.P733S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	733	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGACGGGGGACTGGCTGCT	0.562000													43	101					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328327	80328327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:80328327C>T	ENST00000358842.3	-	1	1045	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	343					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTCAATGTCTCCTGAGGTCTC	0.433000													24	67					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2799783	2799783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2799783G>A	ENST00000307741.6	+	5	786	c.583G>A	c.(583-585)Gag>Aag	p.E195K	THOP1_ENST00000586677.1_Missense_Mutation_p.E74K	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	195					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CACGCTCCAGGAGCTAGGTAG	0.627000													8	87					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872591	55872591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55872591C>T	ENST00000313503.1	+	1	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGAAGAGATCCAGATGGCTCT	0.433000										HNSCC(53;0.14)			56	148					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629089	51629089	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51629089G>A	ENST00000440804.3	+	2	724	c.657G>A	c.(655-657)ggG>ggA	p.G219G	SIGLEC9_ENST00000250360.3_Silent_p.G219G	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	219	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTTCCCTGGGGCCAGCGTGA	0.667000													40	119					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968399	106968399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:106968399G>A	ENST00000369066.3	+	2	2579	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	698							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCTGATATGGAAAAATTCAC	0.423000													22	53					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351785	79351785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79351785C>T	ENST00000350881.2	+	3	660	c.470C>T	c.(469-471)cCc>cTc	p.P157L	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.P66L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	157	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACAATCTCCCCAGGGCCTTT	0.567000													16	27					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54678033	54678033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54678033G>A	ENST00000245615.1	-	8	1604	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V	MBOAT7_ENST00000431666.2_Missense_Mutation_p.A302V|MBOAT7_ENST00000338624.6_Missense_Mutation_p.A302V	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	375					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGGCCCTCGGCAGCCAGGCA	0.692000													41	60					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712507	187712507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187712507G>A	ENST00000295131.2	-	2	220	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	61					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)			CAAACGTGAGGATTTCCTAGA	0.348000													19	54					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912973	55912973	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55912973G>A	ENST00000373965.2	-	15	2086	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	PCDH15_ENST00000373957.3_Silent_p.I535I|PCDH15_ENST00000361849.3_Silent_p.I557I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.I557I|PCDH15_ENST00000414778.1_Silent_p.I562I|PCDH15_ENST00000395432.2_Silent_p.I520I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.I557I|PCDH15_ENST00000395430.1_Silent_p.I557I|PCDH15_ENST00000395446.1_Silent_p.I557I|PCDH15_ENST00000373955.1_Silent_p.I557I|PCDH15_ENST00000395433.1_Silent_p.I535I|PCDH15_ENST00000409834.1_Silent_p.I168I|PCDH15_ENST00000437009.1_Silent_p.I557I|PCDH15_ENST00000395445.1_Silent_p.I564I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	557	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTATTGATGATGAAGTCTC	0.502000										HNSCC(58;0.16)			30	51					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363626	49363626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49363626G>A	ENST00000263265.6	-	6	1012	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R153C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	153	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCCTCCGCACGGGAGGCCCGG	0.657000													22	79					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982421	7982421	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7982421G>A	ENST00000328600.2	-	2	899	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	246	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCCAGGATGAACAGGAGCC	0.537000													15	34					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874967	20874967	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:20874967C>T	ENST00000556948.1	-	0	282																											AAAGTTGAACCTAATACAGAA	0.284000													7	26					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35749387	35749387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:35749387C>T	ENST00000400441.3	-	16	2028	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	MROH8_ENST00000441008.2_Missense_Mutation_p.E663K|MROH8_ENST00000217333.8_Missense_Mutation_p.E506K					maestro heat-like repeat family member 8																		ATGTTGAATTCCTGCAAGCAG	0.463000													10	25					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50951635	50951635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50951635C>T	ENST00000357701.5	+	13	1511	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	487	Ig-like C2-type 4.				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)		ATCACCATTTCCCATGTAGGC	0.522000													58	178					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1478904	1478904	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:1478904G>A	ENST00000571650.1	-	15	2022	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	SLC43A2_ENST00000412517.3_Silent_p.F431F|SLC43A2_ENST00000301335.4_Silent_p.F568F|SLC43A2_ENST00000382147.4_Silent_p.F572F			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	568					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCACTACACGAAGGCCTCCT	0.627000													18	16					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994000	32994000	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32994000G>A	ENST00000340811.4	-	6	1626	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	PKP2_ENST00000070846.6_Silent_p.L550L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	550					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCAAAATCGAGCAAACCAT	0.438000													66	125					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346122	11346122	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:11346122C>T	ENST00000376810.5	+	2	1277	c.951C>T	c.(949-951)ctC>ctT	p.L317L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	317					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTCAACCTCCTGCTGGGAC	0.547000													60	69					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622518	38622518	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38622518G>A	ENST00000413689.1	-	17	3325	c.3132C>T	c.(3130-3132)ccC>ccT	p.P1044P	SCN5A_ENST00000425664.1_Silent_p.P1044P|SCN5A_ENST00000423572.2_Silent_p.P1044P|SCN5A_ENST00000414099.2_Silent_p.P1044P|SCN5A_ENST00000333535.4_Silent_p.P1044P|SCN5A_ENST00000455624.2_Silent_p.P1044P|SCN5A_ENST00000451551.2_Silent_p.P1044P|SCN5A_ENST00000450102.2_Silent_p.P1044P|SCN5A_ENST00000449557.2_Silent_p.P1044P|SCN5A_ENST00000443581.1_Silent_p.P1044P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1044					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)	GCACACACACGGGCTCTGGAT	0.637000													17	29					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104777798	104777798	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:104777798C>T	ENST00000532510.1	-	0	1634																											AGACATGACTCCCAAAGATGC	0.458000													6	3					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067751	60067751	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:60067751A>T	ENST00000505959.1	-	6	721	c.195T>A	c.(193-195)ttT>ttA	p.F65L	ELOVL7_ENST00000425382.1_Missense_Mutation_p.F78L|ELOVL7_ENST00000508821.1_Missense_Mutation_p.F78L|ELOVL7_ENST00000438340.1_Missense_Mutation_p.F78L			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	78					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TATACACAGAAAAGAGTACTA	0.348000													12	12					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88047467	88047467	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:88047467C>T	ENST00000307808.6	+	13	3189	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	AFF1_ENST00000395146.4_Silent_p.S930S|AFF1_ENST00000544085.1_Silent_p.S561S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	923						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAGGGCTCCAGAAGCTCCT	0.542000													12	34					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487313	117487313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:117487313C>T	ENST00000393203.2	+	3	578	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	144						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGGCCGACTCCCTGCACGTG	0.721000													6	14					0	0	1	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32548563	32548563	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32548563G>A	ENST00000360004.5	-	4	828	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGGCCCCAAGGAAGAGCAGGC	0.547000										Multiple Myeloma(14;0.17)			30	187					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982706	9982706	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:9982706T>C	ENST00000383811.3	+	5	1232	c.633T>C	c.(631-633)tgT>tgC	p.C211C	CRELD1_ENST00000452070.1_Silent_p.C211C|CRELD1_ENST00000397170.3_Silent_p.C211C|CRELD1_ENST00000326434.5_Silent_p.C211C	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	211					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						ATCTGGTATGTTCGGGTAGGT	0.632000													28	89					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171055732	171055732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171055732G>A	ENST00000334231.6	+	2	44	c.44G>A	c.(43-45)gGa>gAa	p.G15E	MYO3B_ENST00000409044.3_Missense_Mutation_p.G6E|MYO3B_ENST00000408978.4_Missense_Mutation_p.G6E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	6					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CATCTGTATGGATTATTTCAC	0.393000													27	36					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024667	45024667	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45024667C>T	ENST00000454753.1	-	0	1149							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGGGCTGGCCACTTAGGAAC	0.572000													14	65					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029643	13029643	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13029643G>A	ENST00000399002.2	+	2	442	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Silent_p.E56E	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	56					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AATCGTTTGAGGAAGCACCCC	0.373000													62	103					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178090	20178090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20178090C>T	ENST00000524983.2	-	4	990	c.702G>A	c.(700-702)atG>atA	p.M234I	DBX1_ENST00000227256.3_Missense_Mutation_p.M273I			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCGCCATTTCATGCGTCGGT	0.637000													27	44					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838404	16838404	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:16838404C>T	ENST00000355661.3	-	11	1819	c.1809G>A	c.(1807-1809)agG>agA	p.R603R	PLEKHA7_ENST00000448080.2_Silent_p.R603R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R603R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	603	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGTCCACACTCCTCCTCTGGT	0.657000													27	78					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960822	216960822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:216960822G>A	ENST00000454545.1	+	3	462	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TMEM169_ENST00000295658.4_Missense_Mutation_p.E46K|TMEM169_ENST00000437356.2_Missense_Mutation_p.E46K|TMEM169_ENST00000406027.2_Missense_Mutation_p.E46K	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	46						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGGAAAGAGTCACGCCC	0.552000													13	16					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858697	23858697	+	Missense_Mutation	SNP	C	C	T	rs34935550	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23858697C>T	ENST00000405093.3	-	28	3953	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1295K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1295			E -> Q.		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTCCTTTTCCTCTAGCTGC	0.587000													41	42					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410732	100410732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100410732C>T	ENST00000358173.3	-	11	2323	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	EPHB4_ENST00000360620.3_Missense_Mutation_p.E619K	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	619	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAATCACCTCTTCAATCTTG	0.557000													43	119					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95869888	95869888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:95869888G>A	ENST00000323666.5	+	2	422	c.193G>A	c.(193-195)Gat>Aat	p.D65N	METAP2_ENST00000550777.1_Intron|METAP2_ENST00000546753.1_Missense_Mutation_p.D65N|METAP2_ENST00000261220.9_Missense_Mutation_p.D64N|METAP2_ENST00000551840.1_Missense_Mutation_p.D64N	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	65					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AGCCTCAGTGGATGAAGTAGC	0.358000													15	17					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327932	104327932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104327932C>T	ENST00000299767.5	+	5	792	c.610C>T	c.(610-612)Ctt>Ttt	p.L204F		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	204					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTCCGCCTTCCTTGTAGCAGA	0.428000													26	68					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747578	143747578	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143747578G>A	ENST00000408906.2	+	1	118	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTCTCTGGGCTTTTCTCCC	0.512000													38	136					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929415	4929415	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4929415G>A	ENST00000359350.4	+	1	816	c.816G>A	c.(814-816)gtG>gtA	p.V272V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTTGTTGTGATCCTTATTG	0.493000													55	108					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263105	34263105	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34263105G>A	ENST00000374092.4	-	8	880	c.810C>T	c.(808-810)atC>atT	p.I270I	NFS1_ENST00000374085.1_Silent_p.I210I|NFS1_ENST00000397425.1_Silent_p.I210I|NFS1_ENST00000541387.1_Silent_p.I219I|NFS1_ENST00000540053.1_Silent_p.I68I	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	270					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCCGGCGACGGATGTAGATGG	0.522000													14	25					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49760215	49760215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:49760215C>T	ENST00000492622.2	+	15	2038	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S578L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S522L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	578	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGATACATTCACACAGTTTT	0.299000													31	24					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698508	17698508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:17698508G>A	ENST00000399080.2	-	1	1198	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	392										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAGTTTTGAGATTTTTCCAG	0.328000													20	30					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873104	55873104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55873104G>A	ENST00000313503.1	+	1	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATACAACACCGAAATCCTGAT	0.388000										HNSCC(53;0.14)			71	131					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222244	83222244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83222244C>T	ENST00000563800.1	-	7	2842	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CPEB1_ENST00000564522.1_Missense_Mutation_p.G271S|CPEB1_ENST00000450751.2_Missense_Mutation_p.G271S|CPEB1_ENST00000423133.2_Missense_Mutation_p.G271S|CPEB1_ENST00000398591.2_Missense_Mutation_p.G271S|CPEB1_ENST00000398592.2_Missense_Mutation_p.G120S|CPEB1_ENST00000261723.6_Missense_Mutation_p.G349S|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.M80I|CPEB1_ENST00000568757.1_Missense_Mutation_p.G271S|CPEB1_ENST00000568128.1_Missense_Mutation_p.G346S|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000562019.1_Missense_Mutation_p.G346S			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	346	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGCTTGCCATCCTTACCA	0.458000													20	50					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294610	89294610	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89294610C>T	ENST00000433976.2	+	6	2162	c.1830C>T	c.(1828-1830)acC>acT	p.T610T	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.T568T	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACATAAGAACCCACACCGGTG	0.478000													17	74					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156159	146156159	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:146156159A>G	ENST00000276816.4	-	4	2200	c.2014T>C	c.(2014-2016)Ttg>Ctg	p.L672L	ZNF16_ENST00000394909.2_Silent_p.L672L	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGTTTGATCAACTTTGATCGC	0.527000													84	216					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121712524G>A	ENST00000273691.3	-	6	1045	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000													27	46					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231475563	231475563	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:231475563C>T	ENST00000391858.4	+	2	1550	c.270C>T	c.(268-270)atC>atT	p.I90I	SPRTN_ENST00000008440.9_Silent_p.I90I|SPRTN_ENST00000295050.7_Silent_p.I90I					SprT-like N-terminal domain																		TGTGTTCCATCCGTCTCAGCG	0.418000													61	101					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54209100	54209100	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:54209100C>G	ENST00000375180.2	-	1	588	c.532G>C	c.(532-534)Gac>Cac	p.D178H	FAM120C_ENST00000477084.1_Missense_Mutation_p.D178H|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.D178H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	178										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCAGCCGGTCCTTGCCCAGG	0.706000													13	6					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610562	106610562	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106610562G>A	ENST00000390603.2	-	0	187																											AGAGTCTAAGGGACCCCCCAG	0.587000													48	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408277	179408277	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179408277G>A	ENST00000589042.1	-	347	96647	c.96423C>T	c.(96421-96423)atC>atT	p.I32141I	TTN_ENST00000460472.2_Silent_p.I23076I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.I29573I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I23201I|TTN_ENST00000591111.1_Silent_p.I30500I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I23268I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30500							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)			GCTTCTCAACGATGTAATTGT	0.413000													5	18					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151112471	151112471	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:151112471C>A	ENST00000474524.1	+	37	5569	c.5531C>A	c.(5530-5532)tCc>tAc	p.S1844Y	MED12L_ENST00000273432.4_Missense_Mutation_p.S1704Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1844					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)			CCTGCAGGCTCCTTTGTCCCA	0.478000													154	57					4.44899e-93	4.57593e-93	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46629704	46629704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46629704C>T	ENST00000470495.1	-	1	1580	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	HOXB3_ENST00000489475.1_5'UTR|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G45S|HOXB3_ENST00000476342.1_Missense_Mutation_p.G45S|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_5'UTR|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G45S			P14651	HXB3_HUMAN	homeobox B3	45					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGTAGTCGCCCTCCAGGTGC	0.647000													42	30					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	G	A	rs149331677	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20404428G>A	ENST00000285600.4	+	1	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000													35	56					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326576	57326576	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57326576G>A	ENST00000326441.9	-	10	3597	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.T952T|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.T1078T|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.T954T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1078					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTGACCATGGGTCTCCTCGC	0.488000													19	68					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351016	101351016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101351016G>A	ENST00000534062.1	-	1	168	c.110C>T	c.(109-111)tCg>tTg	p.S37L		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	37										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCACTGCCCGACGTCGCCTC	0.597000													4	19					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6185911	6185911	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6185911C>T	ENST00000262450.3	-	27	4185	c.4086G>A	c.(4084-4086)caG>caA	p.Q1362Q	CHD5_ENST00000378021.1_Silent_p.Q219Q	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1362					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGAGCTCATCCTGCCACTCTG	0.572000													57	99					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432467	26432467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:26432467G>A	ENST00000265944.5	+	21	2519	c.2353G>A	c.(2353-2355)Ggt>Agt	p.G785S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	785	Myosin head-like.				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						AAAGCCAATGGGTTTACTTTC	0.388000													11	43					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201724928	201724928	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:201724928C>G	ENST00000434813.2	-	4	861	c.527G>C	c.(526-528)cGa>cCa	p.R176P	CLK1_ENST00000321356.4_Missense_Mutation_p.R134P	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	134	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTTTTCCTTCGGTGACTCTT	0.458000													40	104					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:131916288C>T	ENST00000286355.5	-	7	3733	c.1640_splice	c.e7-1	p.G547_splice	ADCY8_ENST00000377928.3_Splice_Site_p.G547_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					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	p.G547G(1)		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)			TGTGAATCCTCCTGTGTGTAG	0.458000										HNSCC(32;0.087)			51	147					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16254193	16254193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:16254193C>T	ENST00000339732.5	+	6	1818	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	GALNT15_ENST00000437509.1_Missense_Mutation_p.R439C	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R439C(1)									GAACAGGGTTCGCATTGCTGA	0.547000													34	87					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237430	29237430	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:29237430C>T	ENST00000382535.3	+	2	1314	c.945C>T	c.(943-945)tcC>tcT	p.S315S	FOXG1_ENST00000313071.4_Silent_p.S315S			P55316	FOXG1_HUMAN	forkhead box G1	315				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTTCCTGTCCCTGCACCACC	0.662000													87	72					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797524	93797524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:93797524G>A	ENST00000315765.9	+	4	664	c.656G>A	c.(655-657)cGg>cAg	p.R219Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	219	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCAGGGACACGGAATGATGTG	0.388000													8	27					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851469	34851469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:34851469C>T	ENST00000360581.1	+	4	600	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	NPSR1_ENST00000359791.1_Nonsense_Mutation_p.Q158*|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Nonsense_Mutation_p.Q158*|NPSR1_ENST00000531252.1_Nonsense_Mutation_p.Q147*	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	158						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAAGTTCCTTCAAGGAGGTGA	0.443000													46	72					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886642	123886642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123886642C>T	ENST00000320891.4	+	1	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCCTATGATCGCTACTTGGC	0.572000													4	151					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977920	42977920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:42977920C>T	ENST00000331373.5	+	5	1208	c.953C>T	c.(952-954)cCc>cTc	p.P318L		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		318	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										AGCCAGACTCCCTCAGAAAGA	0.488000													47	97					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94514481	94514481	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94514481T>A	ENST00000370225.3	-	18	2772	c.2686A>T	c.(2686-2688)Aag>Tag	p.K896*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.K822*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	896					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)		GGCTCGGTCTTTTCCAGGGCT	0.522000													22	56					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778810	18778810	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18778810C>T	ENST00000300976.4	+	3	693	c.603C>T	c.(601-603)ttC>ttT	p.F201F	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	201	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGAGGATTTCCTGCGCCTGC	0.662000													40	39					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879778	39879778	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39879778G>A	ENST00000221265.3	-	7	852	c.522C>T	c.(520-522)agC>agT	p.S174S	PAF1_ENST00000595564.1_Silent_p.S164S|PAF1_ENST00000221266.7_Silent_p.S164S	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	174					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTGATCTGGCTATCCCTGT	0.502000													67	114					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012512	29012512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29012512C>T	ENST00000377175.1	-	1	505	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TACTCCAGATCATGATAATCA	0.373000													37	52					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457604	3457604	+	Missense_Mutation	SNP	C	C	T	rs121909069		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3457604C>T	ENST00000472042.1	+	2	1409	c.425C>T	c.(424-426)tCc>tTc	p.S142F	TGIF1_ENST00000400167.2_Missense_Mutation_p.S142F|TGIF1_ENST00000551541.1_Missense_Mutation_p.S142F|TGIF1_ENST00000548489.2_Missense_Mutation_p.S176F|TGIF1_ENST00000407501.2_Missense_Mutation_p.S162F|TGIF1_ENST00000405385.3_Missense_Mutation_p.S142F|TGIF1_ENST00000401449.1_Missense_Mutation_p.S142F|TGIF1_ENST00000343820.5_Missense_Mutation_p.S162F|TGIF1_ENST00000345133.5_Missense_Mutation_p.S142F|TGIF1_ENST00000330513.5_Missense_Mutation_p.S291F			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	291					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				AAGCCGTCATCCCCGGGATCA	0.532000													21	51					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149895905	149895905	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:149895905C>T	ENST00000271628.8	-	5	1499	c.913_splice	c.e5-1	p.G305_splice		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	305						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCTGAGACATCCCTATGAAAA	0.488000													5	7					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479676	47479676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47479676C>T	ENST00000285039.7	-	14	2005	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	569	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACCGTGTCTCTGTTTTTCTC	0.517000													36	71					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29611288	29611288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29611288C>T	ENST00000373779.3	+	14	2354	c.2225C>T	c.(2224-2226)tCg>tTg	p.S742L	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Missense_Mutation_p.S742L|PTPRU_ENST00000428026.2_Missense_Mutation_p.S742L|PTPRU_ENST00000323874.8_Missense_Mutation_p.S742L|PTPRU_ENST00000460170.2_Missense_Mutation_p.S742L|PTPRU_ENST00000356870.3_Missense_Mutation_p.S742L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	742					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCCAGAGATCGGAGGAGATG	0.582000													23	79					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057631	158057631	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:158057631T>C	ENST00000264428.4	+	5	578	c.308T>C	c.(307-309)gTt>gCt	p.V103A	GLRB_ENST00000541722.1_Missense_Mutation_p.V103A|GLRB_ENST00000509282.1_Missense_Mutation_p.V103A|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	103					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACTATAGAGTTAACATCTTC	0.403000													9	24					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44188388	44188388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:44188388G>A	ENST00000291539.6	+	16	1507	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	PDE9A_ENST00000380328.2_Missense_Mutation_p.E430K|PDE9A_ENST00000539837.1_Missense_Mutation_p.E355K|PDE9A_ENST00000398229.3_Missense_Mutation_p.E349K|PDE9A_ENST00000398227.3_Missense_Mutation_p.E323K|PDE9A_ENST00000398234.3_Missense_Mutation_p.E382K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E416K|PDE9A_ENST00000398224.3_Missense_Mutation_p.E356K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.E397K|PDE9A_ENST00000349112.3_Missense_Mutation_p.E355K|PDE9A_ENST00000335512.4_Missense_Mutation_p.E423K|PDE9A_ENST00000398225.3_Missense_Mutation_p.E442K|PDE9A_ENST00000335440.6_Missense_Mutation_p.E381K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E457K	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	483	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTTATTAGAGGAATATTTTAT	0.453000													6	24					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074344	9074344	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9074344C>G	ENST00000433083.2	+	4	488	c.343C>G	c.(343-345)Cgg>Ggg	p.R115G	PHC1_ENST00000544916.1_Missense_Mutation_p.R152G|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.R152G|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	152					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.R152W(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGTATCTACGGGTAAGCCA	0.527000													48	89					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027796	79027796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79027796C>T	ENST00000446378.2	+	2	3239	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1070						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAAACTTTCCCTTTGATGTC	0.433000													9	16					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910434	129910434	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:129910434G>A	ENST00000368654.3	-	9	2307	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MKI67_ENST00000368653.3_Silent_p.S284S|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	644					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTTCTTTTGGAACATATCA	0.373000													43	67					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969796	118969796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:118969796C>T	ENST00000334549.1	+	3	1141	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	381						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GTTTTACCACCTTGTTAAAAA	0.403000													24	35					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313484	54313484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54313484C>T	ENST00000324134.6	-	3	1597	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	NLRP12_ENST00000354278.3_Missense_Mutation_p.E477K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E477K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E477K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E477K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E477K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E477K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E477K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	477	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGCTCCTCAAATAGGATT	0.587000													23	83					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75168812	75168812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:75168812C>T	ENST00000336898.3	-	5	1078	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	GDPD5_ENST00000529721.1_Missense_Mutation_p.G81S|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000443276.2_Missense_Mutation_p.G81S|GDPD5_ENST00000533784.1_Intron	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	81					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTCCAGTAGCCCATGCGGTTG	0.622000													12	41					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6977270	6977270	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6977270C>T	ENST00000600751.1	-	0	685					NR_024075.1																						TCTTAGGTTTCCTTTTAAAGC	0.393000													9	41					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462560	65462560	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:65462560A>C	ENST00000286574.4	-	4	896	c.522T>G	c.(520-522)ttT>ttG	p.F174L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	174	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GACATGTTTTAAAGAAGATAG	0.388000			T	HMGA2	pleomorphic salivary gland adenoma								34	66					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696003	103696003	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:103696003G>A	ENST00000548048.1	-	9	1261	c.765C>T	c.(763-765)ttC>ttT	p.F255F	C12orf42_ENST00000548883.1_Silent_p.F322F|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.F322F			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	322										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTTGGAGGGGAAATGGGTGG	0.622000													38	73					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664813	5664813	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5664813C>T	ENST00000354852.5	+	14	2576	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	TRIM6-TRIM34_ENST00000457787.2_Silent_p.F447F|TRIM34_ENST00000514226.1_Silent_p.F447F|TRIM34_ENST00000429814.2_Silent_p.F447F|TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		801						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TCTCATTTTTCAATGTCACAA	0.468000													30	58					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30723990	30723990	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:30723990C>T	ENST00000504298.1	+	0	36					NR_027655.1																						AAGAAGTGTTCCATACCATTC	0.433000													19	66					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323108	31323108	+	Missense_Mutation	SNP	G	G	A	rs138589959		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:31323108G>A	ENST00000265071.2	+	12	2331	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R689Q(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						AACAAATTACGAAGGGACATT	0.498000													12	57					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265953	265953	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:265953G>A	ENST00000419098.1	-	4	703	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						ATGTGGTAAAGATGTTGCCAC	0.343000													4	30					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312208	31312208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31312208C>A	ENST00000597505.1	-	5	945	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.E316*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	316					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTGTTTCTTTTCCCACT	0.323000													15	28					2.48551e-13	2.51257e-13	1	1	0
DSG2	1829	broad.mit.edu	37	18	29126391	29126391	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:29126391C>T	ENST00000261590.8	+	15	3251	c.3042C>T	c.(3040-3042)gtC>gtT	p.V1014V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1014					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCTTACGTCATGGTGAGGG	0.502000													35	39					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114499295	114499295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:114499295G>A	ENST00000513154.1	-	2	508	c.182C>T	c.(181-183)tCa>tTa	p.S61L	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.S73L			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	73						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGAGTTGTCTGATCCCACATC	0.443000													55	58					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173209	126173209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126173209C>T	ENST00000339582.2	-	9	3035	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	GRM8_ENST00000358373.3_Missense_Mutation_p.D743N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.D743N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	743					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)	TCAGAAATGTCACACTTGAGC	0.468000										HNSCC(24;0.065)			12	53					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754750	76754750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:76754750C>T	ENST00000536229.3	+	1	3069	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	SALL3_ENST00000537592.2_Missense_Mutation_p.P920L|SALL3_ENST00000575389.2_Missense_Mutation_p.P920L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	920				D -> N (in Ref. 2; CAB65124).	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)		TCCAAGTCCCCGGGCCTGGGC	0.766000													10	7					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275446	71275446	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71275446A>G	ENST00000399575.2	+	3	575	c.401A>G	c.(400-402)tAc>tGc	p.Y134C	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	134	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTTGCTATTTACCTTCCTATC	0.433000													32	50					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654499	49654499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49654499C>T	ENST00000249601.4	-	10	2328	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E588K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E694K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E519K|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E511K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E684K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E569K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	678					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						AAAAACTCCTCCATTTCCCTC	0.512000													36	85					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140558223G>A	ENST00000239444.2	+	1	853	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGAGAGGAAGAA	0.532000													3	27					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75925135	75925135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:75925135C>T	ENST00000262207.4	+	4	856	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	130						extracellular region		p.P130S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATATAGGCCCCCGACGTTTCA	0.378000													35	59					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243044	141243044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141243044C>T	ENST00000389484.3	-	59	10264	c.9293G>A	c.(9292-9294)gGa>gAa	p.G3098E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3098					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTTTTTTCCAATCCAATC	0.373000										TSP Lung(27;0.18)			8	27					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	768					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378000													51	109					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151780050	151780050	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151780050G>A	ENST00000356728.6	-	10	1546	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	RORC_ENST00000392697.3_Silent_p.I539I|RORC_ENST00000318247.6_Silent_p.I485I|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	485	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGCTGGAAGATCTGCAGCC	0.567000													31	71					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079255	1079255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:1079255G>A	ENST00000308624.5	+	2	253	c.124G>A	c.(124-126)Gac>Aac	p.D42N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D42N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	42					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAATGCCTATGACATCCGGCT	0.483000													26	59					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552664	152552664	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:152552664C>T	ENST00000367255.5	-	114	21502	c.20901G>A	c.(20899-20901)gtG>gtA	p.V6967V	SYNE1_ENST00000356820.4_Silent_p.V1491V|SYNE1_ENST00000265368.4_Silent_p.V6967V|SYNE1_ENST00000448038.1_Silent_p.V6896V|SYNE1_ENST00000341594.5_Silent_p.V6579V|SYNE1_ENST00000423061.1_Silent_p.V6896V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6967					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACAAAATCCACTGTCAGCT	0.358000										HNSCC(10;0.0054)			21	34					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227291	25227291	+	RNA	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25227291A>C	ENST00000551631.2	+	0	594				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TGAATACTTAAAAATGGCAGG	0.328000													6	16					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31604173	31604173	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:31604173A>G	ENST00000399332.1	-	22	3971	c.3483T>C	c.(3481-3483)tcT>tcC	p.S1161S	HECTD1_ENST00000553700.1_Silent_p.S1161S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCTCAGTGCAGACCTTCCAT	0.443000													55	42					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57143616G>A	ENST00000296318.7	-	5	587	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_ENST00000427856.2_Missense_Mutation_p.P143S|IL17RD_ENST00000320057.5_Missense_Mutation_p.P23S|IL17RD_ENST00000463523.1_Missense_Mutation_p.P23S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000													35	55					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317446	30317446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:30317446G>A	ENST00000375377.1	-	3	1732	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	544										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						CTGTGAGTAAGGGGAGGAAAC	0.532000													46	115					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682000													26	167					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029407	79029407	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79029407C>A	ENST00000446378.2	+	2	4850	c.4819C>A	c.(4819-4821)Cca>Aca	p.P1607T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1607						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGGAGACTTCCCATCAGAAAA	0.458000													56	50					4.33383e-22	4.42187e-22	1	1	0
ZNF517	340385	broad.mit.edu	37	8	146033325	146033325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:146033325G>A	ENST00000359971.3	+	5	1131	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.E342K|ZNF517_ENST00000526178.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCACGCGCAGGAGGGTGCCCA	0.761000													4	3					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71209716	71209716	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:71209716G>A	ENST00000272421.6	+	5	1058	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ANKRD53_ENST00000457410.1_Silent_p.K230K|ANKRD53_ENST00000441349.1_Silent_p.K175K|ANKRD53_ENST00000360589.3_Silent_p.K264K|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	264										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GGTTCTTGAAGGATGCCATGT	0.547000													21	52					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													25	45					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384494	21384494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:21384494G>A	ENST00000382932.2	-	3	1196	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	SLC7A4_ENST00000403586.1_Missense_Mutation_p.L377F	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	377					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGGCCGTGAGGAGCCCGAAC	0.627000													8	23					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601622	138601622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138601622G>A	ENST00000440172.1	-	2	2798	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P917L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P867L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	917						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATGGCAGGGGAGGAGCAGC	0.602000			O	BRAF	pilocytic astrocytoma								17	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454956	179454956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179454956C>T	ENST00000589042.1	-	304	61720	c.61496G>A	c.(61495-61497)cGa>cAa	p.R20499Q	TTN_ENST00000460472.2_Missense_Mutation_p.R11434Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17931Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11559Q|TTN_ENST00000591111.1_Missense_Mutation_p.R18858Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11626Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18858	Fibronectin type-III 48.						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)			GCCTTTGACTCGAGCTAGAAT	0.438000													41	101					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24451496	24451496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24451496C>T	ENST00000398319.2	+	9	1352	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	CABIN1_ENST00000263119.5_Nonsense_Mutation_p.Q323*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.Q273*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	323					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAACGTGATCCAGCCAAGCAC	0.592000													50	106					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897979	94897979	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:94897979G>C	ENST00000289495.5	+	11	2933	c.2717G>C	c.(2716-2718)aGt>aCt	p.S906T	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S906T|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S906T|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S906T|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S928T|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S906T	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	906	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGTATGATAGTGTTAGTTCC	0.488000										HNSCC(28;0.073)			22	59					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975654	118975654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:118975654C>T	ENST00000296499.5	+	2	992	c.589C>T	c.(589-591)Cct>Tct	p.P197S	NDST3_ENST00000433996.2_Missense_Mutation_p.P197S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGTATTAATCCTCATTCTCC	0.358000													46	87					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55949721	55949721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:55949721G>A	ENST00000395841.2	+	11	1304	c.884G>A	c.(883-885)gGt>gAt	p.G295D	RAE1_ENST00000395840.2_Missense_Mutation_p.G295D|RAE1_ENST00000371242.2_Missense_Mutation_p.G295D|RAE1_ENST00000527947.1_Missense_Mutation_p.G295D	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	295					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGATCTGATGGTAGATTCAGC	0.468000													75	190					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036095	57036095	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:57036095G>A	ENST00000371149.3	-	4	1487	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	APCDD1L_ENST00000439429.1_Silent_p.D430D	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	419						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCGAGGGGGTCTTGTTCCA	0.612000													43	88					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265652	3265652	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:3265652T>A	ENST00000520002.1	-	15	2398	c.1843A>T	c.(1843-1845)Att>Ttt	p.I615F	CSMD1_ENST00000542608.1_Missense_Mutation_p.I614F|CSMD1_ENST00000539096.1_Missense_Mutation_p.I614F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I615F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I615F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I615F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I614F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	615	CUB 4.					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)		TCCGAGATAATCAACCAGACA	0.408000													19	24					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333000													19	41					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716752	13716752	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:13716752C>T	ENST00000279593.3	-	13	3629	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1140					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGTTCTCCTTTGTTCGGA	0.607000													23	53					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672877	151672877	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:151672877A>G	ENST00000402676.2	+	4	3591	c.3351A>G	c.(3349-3351)ccA>ccG	p.P1117P	AKAP12_ENST00000253332.1_Silent_p.P1117P|AKAP12_ENST00000354675.6_Silent_p.P1019P|AKAP12_ENST00000359755.5_Silent_p.P1012P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1117					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGACCACCCCAGAAAGCTTTG	0.488000													16	32					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9490759	9490759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9490759G>A	ENST00000446085.4	+	9	812	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ZNF177_ENST00000434737.2_Missense_Mutation_p.D94N|ZNF177_ENST00000541595.2_Missense_Mutation_p.D94N|ZNF177_ENST00000343499.4_Missense_Mutation_p.D94N|ZNF177_ENST00000589262.1_Missense_Mutation_p.D94N|ZNF177_ENST00000602856.1_Missense_Mutation_p.D94N|ZNF177_ENST00000590616.1_Missense_Mutation_p.D94N|ZNF177_ENST00000602738.1_Missense_Mutation_p.D94N|ZNF177_ENST00000605471.1_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	94			D -> G (in dbSNP:rs2230750).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TAAACCAAAAGATACAATTGC	0.388000													36	19					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129214405	129214405	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:129214405C>T	ENST00000296266.3	+	19	2508	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	IFT122_ENST00000504021.1_Silent_p.L597L|IFT122_ENST00000349441.2_Silent_p.L610L|IFT122_ENST00000347300.2_Silent_p.L662L|IFT122_ENST00000348417.2_Silent_p.L721L|IFT122_ENST00000440957.2_Silent_p.L512L|IFT122_ENST00000431818.2_Silent_p.L571L|IFT122_ENST00000507564.1_Silent_p.L713L|IFT122_ENST00000513932.1_3'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	721					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						ACGAGAACCTCGCGCTTGAAA	0.532000													30	59					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269235	27269235	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:27269235T>C	ENST00000321265.5	+	5	637	c.514T>C	c.(514-516)Tac>Cac	p.Y172H		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	172	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CCTGCCCAATTACCGCTGGAC	0.567000													21	32					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021509	51021509	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51021509G>A	ENST00000599957.1	-	3	1658	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	LRRC4B_ENST00000389201.3_Silent_p.F487F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	487	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCACCGTGGTGAAGTAGGTGT	0.751000													5	12					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262838	45262838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:45262838C>T	ENST00000303230.4	-	8	1915	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	620						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGAGGATTTCGTTCTCCTGA	0.418000													6	51					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41057250C>T	ENST00000399564.4	-	9	1330	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATTTCATTTTCCTTTACTGGA	0.403000													12	13					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613080	613080	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:613080G>A	ENST00000397566.1	-	8	1723	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	IRF7_ENST00000330243.5_Silent_p.S438S|IRF7_ENST00000397562.3_Silent_p.S132S|IRF7_ENST00000348655.6_Silent_p.S396S|IRF7_ENST00000397574.2_Silent_p.S425S|IRF7_ENST00000525445.1_Silent_p.S319S|IRF7_ENST00000397570.1_Silent_p.S396S	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	425					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TATAGCGTGGGGAGCCACGGC	0.632000													4	19					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018265	62018265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:62018265C>T	ENST00000578147.1	-	24	5453	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E1793K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1793					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTCTCCTCCGGGCTTGGC	0.672000													17	44					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138630545	138630545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:138630545G>A	ENST00000218099.2	+	5	422	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	F9_ENST00000394090.2_Missense_Mutation_p.G101S|F9_ENST00000479617.1_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	139	EGF-like 2.		G -> D (in HEMB; severe).|G -> S (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CATTAAGAATGGCAGATGCGA	0.378000													49	18					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742206	41742206	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41742206C>T	ENST00000352645.4	+	14	1916	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	ZC3H7B_ENST00000351589.4_Silent_p.L553L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	569					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCACCTTCCTCTGCGAGGTAC	0.642000													19	35					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340760	57340760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57340760G>A	ENST00000361249.3	+	3	406	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	104	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCAGTGTAAGGAGACAGGTGA	0.478000													15	30					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159854279	159854279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159854279C>T	ENST00000426543.2	-	7	1044	c.589G>A	c.(589-591)Gag>Aag	p.E197K	CCDC19_ENST00000368099.4_Missense_Mutation_p.E282K|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	282						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTCCTTCTCCTGCTCCCGC	0.522000													94	204					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046382	36046382	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36046382G>C	ENST00000262623.3	-	14	2145	c.2117C>G	c.(2116-2118)cCc>cGc	p.P706R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	706					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CTTCTGCTGGGGGCTGGTGCG	0.662000													14	20					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21742362	21742362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:21742362C>T	ENST00000328843.6	+	38	6267	c.6236C>T	c.(6235-6237)tCt>tTt	p.S2079F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2072F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2079	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTATTAAGTCTGTCTTGGTT	0.398000									Kartagener syndrome				13	27					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413241	2413241	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2413241C>T	ENST00000202625.2	+	13	2134	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	691					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCCTCACTTCCCGGACATCA	0.592000													62	143					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180921	61180921	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:61180921C>T	ENST00000216513.4	-	3	1609	c.1549_splice	c.e3-1	p.G517_splice		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	517						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGAGATATTACCTAAAAAAAA	0.378000													17	16					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928557	15928557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:15928557C>T	ENST00000504595.1	+	3	1167	c.686C>T	c.(685-687)gCc>gTc	p.A229V	FBXL7_ENST00000329673.7_Missense_Mutation_p.A217V|FBXL7_ENST00000510662.1_Missense_Mutation_p.A182V	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	229					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAACGAGGCCGTCTTTGAT	0.577000													32	49					0	0	1	0	0
LINC01239	441389	broad.mit.edu	37	9	22823403	22823403	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:22823403G>A	ENST00000436786.1	+	0	1538					NR_038977.1																						ccctcccgaggaaatctcaac	0.542000													5	19					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563864	228563864	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228563864G>A	ENST00000258403.3	-	3	638	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.F185F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	189					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443000													23	40					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844580	123844580	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:123844580G>A	ENST00000369005.1	+	4	2905	c.2565G>A	c.(2563-2565)ggG>ggA	p.G855G	TACC2_ENST00000334433.3_Silent_p.G855G|TACC2_ENST00000515603.1_Silent_p.G855G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.G855G|TACC2_ENST00000453444.2_Silent_p.G855G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	855						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGAAAATGGGAAAGAGACTT	0.507000													41	85					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248189	5248189	+	Silent	SNP	C	C	T	rs67440443		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5248189C>T	ENST00000335295.3	-	1	238	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	21			V -> M (in Olympia; O(2) affinity up; dbSNP:rs35890959).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAACTTCATCCACGTTCACCT	0.512000									Sickle Cell Trait				18	54					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32894359	32894359	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:32894359A>G	ENST00000266087.7	+	9	1738	c.1411A>G	c.(1411-1413)Acg>Gcg	p.T471A	FBXO7_ENST00000382058.3_Missense_Mutation_p.T392A|FBXO7_ENST00000397426.1_Missense_Mutation_p.T357A	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	471					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGGGGAGACGCCCAGCCA	0.567000													30	104					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210859	35210859	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35210859G>A	ENST00000274938.7	+	15	1755	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	SCUBE3_ENST00000394681.1_Silent_p.K601K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	585					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						GATCCCTGAAGATGCTCAGAA	0.622000													34	69					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556215	7556215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7556215C>T	ENST00000313599.3	-	6	1381	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E452K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E442K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	442	SRCR 4.					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						AGAGCTGACTCATTCCCAGTG	0.453000													33	82					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3297131	3297131	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3297131A>G	ENST00000219596.1	-	5	1511	c.1472T>C	c.(1471-1473)gTt>gCt	p.V491A	MEFV_ENST00000536379.1_Missense_Mutation_p.V280A|MEFV_ENST00000339854.4_Missense_Mutation_p.V311A|MEFV_ENST00000541159.1_Missense_Mutation_p.V280A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	491					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GATCTGCCCAACCATCTGGCC	0.582000													11	192					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383804	85383804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:85383804G>A	ENST00000258888.5	+	5	2067	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	634					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGGGGAAGAGGGACCCCA	0.662000													13	38					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94220954	94220954	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:94220954G>A	ENST00000265986.6	-	22	2873	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	IDE_ENST00000371581.5_Silent_p.F384F|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	939					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTACCTTGTAGAATTTGATGA	0.328000													7	18					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64630183	64630183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64630183C>T	ENST00000357395.3	+	90	16662	c.5518C>T	c.(5518-5520)Cga>Tga	p.R1840*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.R5455*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.R5372*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.R2089*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.R5455*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.R1840*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5455					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCCTGGATCGACTCCCACA	0.527000													6	55					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54362369	54362369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:54362369C>T	ENST00000306888.2	-	5	1134	c.883G>A	c.(883-885)Gag>Aag	p.E295K	LNX1_ENST00000263925.7_Missense_Mutation_p.E391K|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	391	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCAAGCTGCTCCTCGGGGCTA	0.522000													60	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593106	179593106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179593106G>A	ENST00000589042.1	-	67	19669	c.19445C>T	c.(19444-19446)tCa>tTa	p.S6482L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5238L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6165L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6165	Ig-like 46.						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)			TTTGGTGAATGATGGAGGAAT	0.368000													6	11					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854600	234854600	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234854600G>T	ENST00000324695.4	+	7	840	c.800G>T	c.(799-801)tGt>tTt	p.C267F	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	267						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GACAATGGCTGTCATGGACAT	0.468000													48	99					1.51926e-22	1.55063e-22	1	1	0
GRHL2	79977	broad.mit.edu	37	8	102644468	102644468	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:102644468T>C	ENST00000251808.3	+	11	1698	c.1360T>C	c.(1360-1362)Ttg>Ctg	p.L454L	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Silent_p.L438L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	454						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGATGGGAAGTTGGCTGCCAT	0.428000											OREG0018909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	109					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809542	5809542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5809542G>A	ENST00000317078.1	-	1	504	c.505C>T	c.(505-507)Cca>Tca	p.P169S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTGCAGTATGGAAGGCGCTTG	0.478000													13	31					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356754	97356754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97356754G>A	ENST00000389672.5	+	14	2650	c.2612G>A	c.(2611-2613)gGa>gAa	p.G871E	EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000514100.1_Missense_Mutation_p.G263E|EPHA6_ENST00000502694.1_Missense_Mutation_p.G263E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	776	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G777E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGTTGGTCGGAATGCTCCGA	0.423000													79	135					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740678	101740678	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101740678C>T	ENST00000360264.3	+	5	356	c.336C>T	c.(334-336)ctC>ctT	p.L112L	CUX1_ENST00000556210.1_Silent_p.L101L|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Silent_p.L96L|CUX1_ENST00000546411.2_Silent_p.L101L|CUX1_ENST00000393824.3_Silent_p.L75L|CUX1_ENST00000550008.2_Silent_p.L101L|CUX1_ENST00000437600.4_Silent_p.L112L|CUX1_ENST00000549414.2_Silent_p.L101L|CUX1_ENST00000292535.7_Silent_p.L101L|CUX1_ENST00000292538.4_Silent_p.L112L|CUX1_ENST00000560541.1_3'UTR	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	101					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACAGCAACTCCAGCTCAAAG	0.507000													39	101					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449476	55449476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55449476C>T	ENST00000588756.1	-	7	2551	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	NLRP7_ENST00000590030.1_Missense_Mutation_p.D689N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D689N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D661N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D689N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D661N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D717N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	689							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGAAGAGTCACTCAGGAAG	0.483000													56	186					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125295200	125295200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125295200G>A	ENST00000296220.5	-	5	788	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	167					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GACTTCAGAGGAGGATTATTC	0.343000													8	28					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44084349	44084349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:44084349C>T	ENST00000359947.4	+	26	4760	c.4420C>T	c.(4420-4422)Ctt>Ttt	p.L1474F	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.L1465F|PTPRF_ENST00000372413.3_Missense_Mutation_p.L1465F|PTPRF_ENST00000372414.3_Missense_Mutation_p.L1474F|PTPRF_ENST00000422171.2_Missense_Mutation_p.L833F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1474	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACCTGTGGCCTTATTCAGGT	0.572000													69	102					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147127334	147127334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:147127334C>T	ENST00000369238.5	-	5	1036	c.589G>A	c.(589-591)Gat>Aat	p.D197N	ACP6_ENST00000392988.2_Missense_Mutation_p.D197N	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	197					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACTTCTGAATCTGCTTCATCA	0.542000													3	13					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:19553749G>A	ENST00000409832.3	+	1	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	111										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGCAGGGGGAGCGGCAAGA	0.597000													81	799					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121724	50121724	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50121724G>A	ENST00000374160.3	-	1	553	c.477C>T	c.(475-477)atC>atT	p.I159I	LRRC18_ENST00000298124.3_Silent_p.I159I|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	159						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGCTCACGGGGATGTTGTTCA	0.537000													6	17					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891529	18891529	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:18891529C>T	ENST00000317658.3	+	1	485	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	109					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTCATGGTATCATTCAGAATG	0.388000													29	50					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129072803	129072803	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:129072803C>T	ENST00000274487.4	+	23	3661	c.3516C>T	c.(3514-3516)taC>taT	p.Y1172Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1172	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGCCAGTGTACTGCCGAGTGA	0.468000													44	42					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764291	110764291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:110764291C>T	ENST00000451085.1	+	4	2509	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P488L|LRRN3_ENST00000308478.5_Missense_Mutation_p.P488L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	488	Ig-like C2-type.					integral to membrane		p.P488L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGCGTAACTCCCAAAGAAGGG	0.403000													21	56					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101671377	101671377	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101671377G>A	ENST00000360264.3	+	3	194		c.e3-1		CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000425244.2_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Splice_Site|CUX1_ENST00000546411.2_Splice_Site|CUX1_ENST00000292535.7_Splice_Site|CUX1_ENST00000560541.1_Splice_Site|CUX1_ENST00000437600.4_Splice_Site	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCCTGCTCCAGGATTTGCGCA	0.502000													26	58					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409364	80409364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:80409364G>A	ENST00000265080.4	+	15	2162	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	699	N-terminal Ras-GEF.				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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAGGTCATTGGAATTGTTTTT	0.438000													17	39					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64049913	64049913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:64049913C>T	ENST00000392769.2	-	12	1377	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CEP112_ENST00000541355.1_Missense_Mutation_p.D22N|CEP112_ENST00000535342.2_Missense_Mutation_p.D387N|CEP112_ENST00000537949.1_Missense_Mutation_p.D345N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	387						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						ACATTTGTATCCTCAAGCAAT	0.388000													75	197					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20212610	20212610	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:20212610T>C	ENST00000412997.1	-	7	1748	c.1397A>G	c.(1396-1398)aAa>aGa	p.K466R	SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.K466R|SGOL1_ENST00000425061.1_Missense_Mutation_p.K214R|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000263753.4_Missense_Mutation_p.K466R|SGOL1_ENST00000452020.1_Missense_Mutation_p.K197R|SGOL1_ENST00000429446.3_Missense_Mutation_p.K197R|SGOL1_ENST00000437051.1_Missense_Mutation_p.K214R|SGOL1_ENST00000412868.1_Missense_Mutation_p.K466R|SGOL1_ENST00000417364.1_Missense_Mutation_p.K214R|SGOL1_ENST00000442720.1_Missense_Mutation_p.K197R|SGOL1_ENST00000306698.2_Missense_Mutation_p.K197R|SGOL1_ENST00000419233.2_Missense_Mutation_p.K214R|SGOL1_ENST00000383774.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	466					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGGGCTTGCTTTATTCTTTTT	0.458000													29	30					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57838293	57838293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57838293C>T	ENST00000281282.5	+	18	3707	c.3629C>T	c.(3628-3630)gCc>gTc	p.A1210V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1210						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CGTTTGAAAGCCATGAAGCGG	0.577000													13	37					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100587942	100587942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100587942C>T	ENST00000358544.2	+	32	5192	c.5081C>T	c.(5080-5082)tCt>tTt	p.S1694F	VPS13B_ENST00000357162.2_Missense_Mutation_p.S1669F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1694					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAGATTTTTCTGTCCGAATA	0.348000													23	48					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1776238	1776238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1776238C>T	ENST00000236671.2	-	6	857	c.725G>A	c.(724-726)gGg>gAg	p.G242E	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.G113R	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	242					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCTCACCCCCAGGCTGCGC	0.592000													29	65					0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57312971	57312971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:57312971C>T	ENST00000514888.1	+	4	564	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	PAICS_ENST00000512576.1_Missense_Mutation_p.L109F|PAICS_ENST00000399688.3_Missense_Mutation_p.L116F|PAICS_ENST00000264221.2_Missense_Mutation_p.L109F			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	109	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGGTTCTTTTCTCAAAAGAAA	0.388000													3	10					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962193	151962193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:151962193C>T	ENST00000355193.2	-	8	1332	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D372N					lysine (K)-specific methyltransferase 2C																		ACCGCTATATCCAGGCACATT	0.453000													35	619					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	868150	868150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:868150G>A	ENST00000325464.1	-	16	2735	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MED16_ENST00000269814.4_3'UTR|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000589119.1_Missense_Mutation_p.P862L|MED16_ENST00000395808.3_3'UTR	NM_005481.2	NP_005472.2	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	862					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGTCCTGGGAGAGTGGTG	0.682000													12	7					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369634	2369634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2369634G>A	ENST00000301732.5	-	8	1521	c.821C>T	c.(820-822)aCc>aTc	p.T274I	ABCA3_ENST00000382381.3_Missense_Mutation_p.T274I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	274					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGTGAGCGCGGTGTAGGTGAA	0.612000													59	35					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103293623	103293623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:103293623C>T	ENST00000520539.1	-	41	6427	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	UBR5_ENST00000220959.4_Missense_Mutation_p.V1941I|UBR5_ENST00000521922.1_Missense_Mutation_p.V1935I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1941					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)			AATGAGCAAACATCCAAAACT	0.398000													56	77					0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15903505	15903505	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:15903505G>C	ENST00000261647.5	+	2	727	c.258G>C	c.(256-258)gaG>gaC	p.E86D	TTC19_ENST00000486880.2_Missense_Mutation_p.E207D|TTC19_ENST00000497842.2_3'UTR	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	86					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGCTGCCGAGGACGGGGCGG	0.726000													7	7					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:27420986C>T	ENST00000211936.6	-	6	636	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E118K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378000													30	50					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33021996	33021996	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33021996C>T	ENST00000340811.4	-	4	1143	c.1034_splice	c.e4-1	p.G345_splice	PKP2_ENST00000070846.6_Splice_Site_p.G345_splice	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	345					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCTGCATTCCTAGACAAAC	0.532000													42	87					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836048	43836048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:43836048C>T	ENST00000372781.3	+	2	167	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S37F	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)				AGTGAATTTTCCCAATTTCCA	0.403000													64	92					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:11648245G>A	ENST00000262442.3	+	31	6311	c.6243G>A	c.(6241-6243)aaG>aaA	p.K2081K	DNAH9_ENST00000454412.2_Silent_p.K2081K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2081					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K2081N(1)		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)		ACATCCCCAAGATTGTGACTG	0.597000													16	21					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039784	36039784	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:36039784A>G	ENST00000282507.3	-	5	971	c.870T>C	c.(868-870)ttT>ttC	p.F290F	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.F256F|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	290						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)			CAGAGTCCCCAAACTTGGCAA	0.448000													14	42					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619980	24619980	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24619980C>T	ENST00000324103.6	+	8	1691	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	RNF31_ENST00000382687.3_Silent_p.P306P|RNF31_ENST00000559275.1_Silent_p.P306P	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	457	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGGGACCCCCCAAGCCTGGGC	0.627000													8	95					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	292008	292008	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:292008C>T	ENST00000409548.2	+	5	1054	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ATHL1_ENST00000409655.1_Silent_p.F136F|ATHL1_ENST00000409479.1_Silent_p.F313F	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	313					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCTGATGTTCCACCCAGAAG	0.657000													6	10					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100789163	100789163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100789163C>T	ENST00000358544.2	+	41	7594	c.7483C>T	c.(7483-7485)Cac>Tac	p.H2495Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.H2470Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2495					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTTGTCATCACCTTGACCA	0.418000													83	135					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47230163	47230163	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:47230163G>A	ENST00000300404.2	+	4	594	c.533_splice	c.e4-1	p.E179_splice	B4GALNT2_ENST00000393354.2_Splice_Site_p.E119_splice|B4GALNT2_ENST00000504681.1_Splice_Site_p.E93_splice	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	179					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTCCTGCAGAGAAGGGCTGCC	0.612000													8	18					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034838	16034838	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:16034838C>T	ENST00000326742.7	-	6	703	c.702G>A	c.(700-702)aaG>aaA	p.K234K	CYP4F11_ENST00000248041.7_Silent_p.K234K|CYP4F11_ENST00000402119.3_Silent_p.K234K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	234					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						GCTGGTTTCTCTTTTCTACAA	0.512000													7	92					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46826630G>A	ENST00000283296.7	-	17	3298	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000545669.1_Missense_Mutation_p.P433S|GPR116_ENST00000456426.2_Missense_Mutation_p.P862S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					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)			AGAGAACTAGGATCTGGGGAG	0.488000													33	66					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24627402	24627402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24627402C>T	ENST00000558468.1	+	10	1318	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	RNF31_ENST00000324103.6_Missense_Mutation_p.P965S|RNF31_ENST00000382687.3_Missense_Mutation_p.P814S|RNF31_ENST00000559275.1_Missense_Mutation_p.P814S																							CCGGGCAGTCCCTGGAGGTGA	0.557000													5	90					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748916	42748916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:42748916C>T	ENST00000330714.3	+	2	267	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MX2_ENST00000543692.1_Missense_Mutation_p.S28F	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	28					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAAATGAATTCCTTCCAGCAA	0.517000													21	58					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335549	42335549	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42335549C>T	ENST00000262418.6	-	11	1243		c.e11-1		AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1						bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATTTAAGTCTGTGGTGGAG	0.597000													36	73					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143545880	143545880	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143545880C>T	ENST00000517894.1	+	2	1215	c.321C>T	c.(319-321)ttC>ttT	p.F107F	BAI1_ENST00000323289.5_Silent_p.F107F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	107					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGACTCCTTCCTCGAGTCCA	0.701000													3	11					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202046	55202046	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:55202046T>C	ENST00000396834.1	+	11	1621	c.1125T>C	c.(1123-1125)gaT>gaC	p.D375D	IL31RA_ENST00000354961.4_Silent_p.D375D|IL31RA_ENST00000396836.2_Silent_p.D394D|IL31RA_ENST00000490985.1_Silent_p.D252D|IL31RA_ENST00000447346.2_Silent_p.D394D|IL31RA_ENST00000359040.5_Silent_p.D394D|IL31RA_ENST00000297015.3_Silent_p.D252D	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	362	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGTTTCCGGATGTGGACTCAG	0.557000													41	45					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149678065	149678065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:149678065G>A	ENST00000328668.7	-	2	1001	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	141						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATATGGGTGGAATAACCTGC	0.622000													21	32					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49221400	49221400	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:49221400G>A	ENST00000301050.2	+	13	1372	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	CACNB3_ENST00000547392.1_Silent_p.E364E|CACNB3_ENST00000536187.2_Silent_p.E390E|CACNB3_ENST00000540990.1_Silent_p.E378E|CACNB3_ENST00000547230.1_Silent_p.E350E	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	391					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGGCGAGGAGCACTCCCCCC	0.632000													17	33					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221254	5221254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5221254G>A	ENST00000321255.1	-	1	676	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGTAGGAGAAAAGGAT	0.448000													21	31					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635421	145635421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145635421C>T	ENST00000296575.3	+	9	2123	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	490						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)		CAGTAATGGTCCTTTGGTTGG	0.388000													27	44					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126505149	126505149	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:126505149C>T	ENST00000298492.5	+	3	213	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	56	MPN-like.			EIH -> QIY (in Ref. 1; BAA09927).		BRISC complex	polyubiquitin binding			NS(1)	1						TTACAGAAATCCATAACCATC	0.289000													19	37					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13525016	13525016	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:13525016G>A	ENST00000295757.3	+	3	387	c.204G>A	c.(202-204)gaG>gaA	p.E68E	HDAC11_ENST00000437379.2_Silent_p.E40E|HDAC11_ENST00000433119.1_Silent_p.E40E|HDAC11_ENST00000522202.1_Silent_p.E40E|HDAC11_ENST00000405025.1_Silent_p.E40E|HDAC11_ENST00000404548.1_Silent_p.E68E|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Silent_p.E68E|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404040.1_Silent_p.E68E	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	68	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						AGGCCTCGGAGGAGGACCTGC	0.637000													53	103					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903859	37903859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37903859C>T	ENST00000403299.1	-	7	1384	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CARD10_ENST00000406271.3_Missense_Mutation_p.E104K|CARD10_ENST00000251973.5_Missense_Mutation_p.E390K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	390					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTCTCAATCTCCTCCAGTTGG	0.612000													65	146					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540442	28540442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28540442C>T	ENST00000452236.2	-	4	3841	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1075					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						gagttcatttcgtatttcaaa	0.388000													34	71					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452414	10452414	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10452414G>A	ENST00000397077.1	-	5	860	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP2B2_ENST00000383800.4_Silent_p.F95F|ATP2B2_ENST00000352432.4_Silent_p.F95F|ATP2B2_ENST00000343816.4_Silent_p.F95F|ATP2B2_ENST00000360273.2_Silent_p.F95F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	95					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGAGCTGCAGGAAGGTTTTTG	0.562000													170	277					0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11566004	11566004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:11566004G>A	ENST00000379426.1	+	2	203	c.203G>A	c.(202-204)aGa>aAa	p.R68K	TMEM170B_ENST00000543875.1_Missense_Mutation_p.R68K	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	68						integral to membrane				large_intestine(3)|lung(5)	8						AGGCAGGGAAGAGTCATCTCT	0.458000													74	140					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731925	140731925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140731925C>T	ENST00000523390.1	+	1	2098	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCTCTTTCTCCTCGCGGT	0.607000													30	182					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28478621	28478621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28478621C>T	ENST00000361902.1	-	2	197	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Missense_Mutation_p.G50S	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	50					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TACTCCTCGCCGTTGAGGGTG	0.458000													30	54					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153586928	153586928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153586928C>T	ENST00000422373.1	-	27	4731	c.4483G>A	c.(4483-4485)Gag>Aag	p.E1495K	FLNA_ENST00000360319.4_Missense_Mutation_p.E1495K|FLNA_ENST00000344736.4_Missense_Mutation_p.E1495K|FLNA_ENST00000369850.3_Missense_Mutation_p.E1495K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1495	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACTGGCTCCACCAGGCCT	0.622000													57	9					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927093	130927093	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:130927093G>A	ENST00000261655.4	-	8	916	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RIMBP2_ENST00000535703.1_Silent_p.F159F|RIMBP2_ENST00000536002.1_Silent_p.F159F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AATGGTTGATGAAGTTCTGAT	0.607000													51	90					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760939	130760939	+	Silent	SNP	G	G	A	rs116452429	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:130760939G>A	ENST00000276708.4	-	14	2216	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	445						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGAGGGTGAAGGGAATGCTCC	0.527000													33	37					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141474287	141474287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141474287C>T	ENST00000389484.3	-	36	6828	c.5857G>A	c.(5857-5859)Gga>Aga	p.G1953R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1953					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACTCTTCCCAAGCCATTG	0.398000										TSP Lung(27;0.18)			34	70					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799435	141799435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141799435G>A	ENST00000475668.2	+	67	7826	c.7772G>A	c.(7771-7773)gGa>gAa	p.G2591E	MGAM_ENST00000549489.2_Missense_Mutation_p.G1695E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1695					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)	AATGCAAGAGGAGAGTGGAAG	0.532000													24	88					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505322	155505322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155505322G>A	ENST00000302053.3	-	6	2633	c.2555C>T	c.(2554-2556)tCc>tTc	p.S852F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	852	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)	AGCCCTGAGGGAATAATCTGC	0.493000													36	92					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044584	119044584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:119044584G>A	ENST00000334464.5	-	5	1899	c.1660C>T	c.(1660-1662)Ccg>Tcg	p.P554S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	554	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGAATTTTCGGTGGTAGTGGG	0.418000													23	104					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2408369G>A	ENST00000332578.3	+	7	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		AAGACCCGACGAAGTGGGTGG	0.657000													36	27					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245604	137245604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137245604G>A	ENST00000331858.4	+	2	1186	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	341					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCCCGGGGAGGGAGGAAATGG	0.682000													11	16					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371759	76371759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:76371759G>A	ENST00000407242.2	-	3	1120	c.878C>T	c.(877-879)cCt>cTt	p.P293L	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.P293L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.P293L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	293						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCCTCGGAAGGTGCGTGGAT	0.637000													13	29					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75082833G>A	ENST00000401621.2	-	10	1130	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_ENST00000394865.1_Missense_Mutation_p.S337L|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.S337L			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCATGAAACGAAAGCTGAGC	0.403000													28	41					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305072	121305072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121305072G>A	ENST00000334384.3	+	4	583	c.573G>A	c.(571-573)tgG>tgA	p.W191*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	191						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W191*(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ATTGGGCATGGAACTCTACCT	0.502000													48	97					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239320	83239320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:83239320C>T	ENST00000296591.5	-	11	1779	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	EDIL3_ENST00000380138.3_Missense_Mutation_p.R444Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	454	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTTATGTGTCGTGCATAGAT	0.468000													6	74					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54923092	54923092	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:54923092C>T	ENST00000284061.3	+	4	846	c.666C>T	c.(664-666)atC>atT	p.I222I	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	222	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CATTAATAATCCTGGCCAACT	0.373000													65	57					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926412	70926412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70926412C>T	ENST00000393567.2	-	56	9419	c.9269G>A	c.(9268-9270)gGg>gAg	p.G3090E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3090										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTGAAATCCCTACAGAGTC	0.433000													21	46					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223794	67223794	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67223794T>G	ENST00000438189.2	+	4	451	c.107T>G	c.(106-108)tTt>tGt	p.F36C	CABP4_ENST00000325656.5_Missense_Mutation_p.F141C			P57796	CABP4_HUMAN	calcium binding protein 4	141					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTCGAGGAGTTTGACACTGAC	0.652000													28	84					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160553263	160553263	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160553263G>A	ENST00000366963.4	+	3	662		c.e3-1		SLC22A1_ENST00000457470.2_Splice_Site|SLC22A1_ENST00000324965.4_Splice_Site	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1							basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCTCTCTGAAGGTTTGGCCGT	0.587000													117	212					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739197	119739197	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:119739197G>T	ENST00000541757.1	+	11	1012	c.631_splice	c.e11-1	p.G211_splice	MARCO_ENST00000327097.4_Splice_Site_p.G289_splice			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	289	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCATCTTAGGTTTGGCTGGT	0.438000													23	54					2.27525e-19	2.31607e-19	1	1	0
WRN	7486	broad.mit.edu	37	8	30999098	30999098	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:30999098T>C	ENST00000298139.5	+	25	3369	c.3120T>C	c.(3118-3120)atT>atC	p.I1040I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1040					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATGAAGATTTGCGCCCTTA	0.408000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				19	63					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:130762727C>T	ENST00000392429.1	+	2	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S387F|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S387F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000													27	51					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202538	56202538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:56202538C>T	ENST00000361673.3	-	5	5094	c.4881G>A	c.(4879-4881)atG>atA	p.M1627I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1627							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGGTTCCTCCATTTTGTGGC	0.458000													20	44					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305466	136305466	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:136305466G>A	ENST00000371929.3	+	16	2232	c.1786_splice	c.e16-1	p.A596_splice	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_Splice_Site_p.A268_splice|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Splice_Site_p.A596_splice|ADAMTS13_ENST00000356589.2_Splice_Site_p.A565_splice	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	596	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCCGACAGCGGTGAGGATCG	0.627000													55	34					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88500490	88500490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:88500490C>T	ENST00000552810.1	-	25	3122	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E929K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	927					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCACAAACTTCAGCCTCCATT	0.308000													4	22					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401339	23401339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:23401339G>A	ENST00000258729.3	-	4	663	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	103	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ACTCCATACTGGACTAGTAAA	0.363000													17	31					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029071	18029071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:18029071C>T	ENST00000262608.8	+	16	4031	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	CECR2_ENST00000400573.4_Missense_Mutation_p.S1343F|CECR2_ENST00000400585.2_Missense_Mutation_p.S1201F	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1385					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTTACTCTTCCCCTGTGGCT	0.642000													20	42					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16189852	16189852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:16189852G>A	ENST00000405303.2	-	5	822	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	TAPT1_ENST00000399920.3_Missense_Mutation_p.L136F|TAPT1_ENST00000304584.8_Intron|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	247						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CAGACATAGAGAACAGCCATG	0.363000													47	71					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700768	72700768	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72700768C>A	ENST00000469092.1	-	3	516	c.240G>T	c.(238-240)agG>agT	p.R80S	CD300LF_ENST00000326165.6_Missense_Mutation_p.R77S|CD300LF_ENST00000301573.9_Missense_Mutation_p.R77S|CD300LF_ENST00000581500.1_Missense_Mutation_p.R80S|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.R80S|CD300LF_ENST00000361254.4_Missense_Mutation_p.R80S|CD300LF_ENST00000464910.1_Missense_Mutation_p.R80S|CD300LF_ENST00000583937.1_Missense_Mutation_p.R77S|RAB37_ENST00000340415.3_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	77	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACACCCGGTCCCTCTTCACCT	0.507000													189	197					4.31785e-110	4.44254e-110	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182398999	182398999	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:182398999G>A	ENST00000397033.2	+	26	3215	c.2784_splice	c.e26-1	p.D929_splice		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	929					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATTAAACAGGATGAGACTTC	0.358000													9	23					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740493	62740493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62740493C>T	ENST00000371153.4	-	3	661	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	95										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCCTTGGCACCACGGGAGAC	0.607000													61	91					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172726	5172726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5172726G>A	ENST00000380367.1	-	2	1291	c.874C>T	c.(874-876)Cca>Tca	p.P292S	OR52A1_ENST00000328942.1_Missense_Mutation_p.P292S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	292					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGACAAGTGGATTGAGAAAT	0.388000													24	91					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77656968	77656968	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:77656968G>A	ENST00000461745.1	+	21	4056	c.3156G>A	c.(3154-3156)aaG>aaA	p.K1052K	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Silent_p.K1068K|ROBO2_ENST00000332191.8_Silent_p.K1052K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1052					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGGAAAAAAGAAGAAAAATA	0.423000													13	29					0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100787272	100787272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100787272G>A	ENST00000296414.7	+	8	849	c.768G>A	c.(766-768)tgG>tgA	p.W256*	DAPP1_ENST00000512369.1_Nonsense_Mutation_p.W256*			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	256	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TATTACGCTGGAAATTGGTGA	0.358000													13	25					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846622	22846622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:22846622C>T	ENST00000456783.2	+	4	395	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTATTTTGCCCGAGACCTTTG	0.279000													7	5					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93521348	93521348	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:93521348T>A	ENST00000530819.1	+	2	664	c.432T>A	c.(430-432)ttT>ttA	p.F144L	MED17_ENST00000251871.3_Intron			Q9NVC6	MED17_HUMAN	mediator complex subunit 17	0					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGTGGACtttaattgaataa	0.333000													12	16					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11775492	11775492	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11775492C>T	ENST00000381486.2	+	30	5607	c.5307C>T	c.(5305-5307)atC>atT	p.I1769I	GREB1_ENST00000234142.5_Silent_p.I1769I|GREB1_ENST00000396123.1_Silent_p.I767I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1769						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGCAGATCGTGGTGGGCG	0.627000													23	65					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095817	178095817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:178095817C>T	ENST00000397062.3	-	5	2068	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G489D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G482D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G489D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	505					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTATTCTTACCCCTCCTACG	0.348000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	69					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459624	49459624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49459624C>T	ENST00000374201.3	-	2	438	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E37K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E44K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	46	KIND.				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)		CGGAGGTCTTCCAGGAGCTGC	0.572000													18	61					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73455548	73455548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:73455548C>T	ENST00000252034.7	+	5	598	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	ELN_ENST00000320399.6_Missense_Mutation_p.P67S|ELN_ENST00000380576.5_Missense_Mutation_p.P67S|ELN_ENST00000320492.7_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.P67S|ELN_ENST00000358929.4_Missense_Mutation_p.P67S|ELN_ENST00000357036.5_Missense_Mutation_p.P67S|ELN_ENST00000445912.1_Missense_Mutation_p.P67S|ELN_ENST00000458204.1_Missense_Mutation_p.P57S|ELN_ENST00000380553.4_Missense_Mutation_p.P67S|ELN_ENST00000429192.1_Missense_Mutation_p.P67S|ELN_ENST00000380562.4_Missense_Mutation_p.P67S|ELN_ENST00000414324.1_Missense_Mutation_p.P57S|ELN_ENST00000380575.4_Missense_Mutation_p.P57S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	67					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATCCACAGTTCCCGGAGGGCT	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						162	485					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49751367	49751367	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49751367C>T	ENST00000327697.6	+	30	3006	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	RNF123_ENST00000433785.1_Silent_p.L66L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	954						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGAGGAACCTCCTGGCGCCCT	0.672000													35	65					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470949	53470949	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53470949G>A	ENST00000301463.4	-	2	206	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SPRYD3_ENST00000547837.1_Silent_p.F77F	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	40	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCTGATATCGGAAAGCTCGGA	0.473000													45	78					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830118	26830118	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26830118C>T	ENST00000215906.5	+	2	975	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	179					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGCCCTATTTCTCCCGGGACG	0.577000													31	32					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820040	55820040	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820040G>A	ENST00000328314.3	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAGAAATGAAAAATAGAA	0.348000													33	47					0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6559706	6559706	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6559706G>A	ENST00000266557.3	+	4	677		c.e4-1		CD27-AS1_ENST00000399492.2_RNA|CD27_ENST00000541233.1_Splice_Site|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule						anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGTTTTTCCAGAGATGCTGGA	0.582000													52	85					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302275	209302275	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:209302275C>A	ENST00000272847.2	+	3	405	c.192C>A	c.(190-192)ttC>ttA	p.F64L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	64						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTAATTGTTTCCCTGAATGGG	0.338000													17	44					7.41877e-09	7.48226e-09	1	1	0
ARHGAP4	393	broad.mit.edu	37	X	153175712	153175712	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153175712T>G	ENST00000370028.3	-	18	2246	c.2189A>C	c.(2188-2190)cAg>cCg	p.Q730P	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q512P|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q669P|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.Q690P|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q667P	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	690					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGATCGGGCTGCACTATGAG	0.701000													22	8					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37209131	37209131	+	RNA	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37209131T>C	ENST00000425901.2	+	0	3253					NR_033753.2																						AGAATGGAGGTTGCACTATTC	0.527000													9	25					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024279	6024279	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6024279T>C	ENST00000330728.4	-	1	145	c.100A>G	c.(100-102)Act>Gct	p.T34A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGAGAAGTACAGAAACAT	0.418000													22	38					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476371	57476371	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57476371G>A	ENST00000371236.2	-	14	1928	c.1665C>T	c.(1663-1665)agC>agT	p.S555S	DAB1_ENST00000439789.2_Silent_p.S469S|DAB1_ENST00000414851.2_Silent_p.S537S|DAB1_ENST00000371231.1_Silent_p.S588S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.S555S|DAB1_ENST00000420954.2_Silent_p.S553S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	588					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						GCGCTATCTAGCTACCGGCCT	0.483000													83	78					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226702	30226702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:30226702C>T	ENST00000261708.4	-	2	277	c.140G>A	c.(139-141)aGa>aAa	p.R47K	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	47					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GAAAAGGGTTCTTCTCTGGAT	0.318000													12	31					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649966	57649966	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57649966C>T	ENST00000269834.1	-	3	401	c.15_splice	c.e3-1	p.G6_splice		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G6R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCACTCTTCCCTGTAACAAC	0.478000													49	70					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555318	155555318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:155555318G>A	ENST00000295101.2	+	1	508	c.31G>A	c.(31-33)Gat>Aat	p.D11N	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D11N	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	11					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTTGGGGACGATTATCAGGT	0.602000													33	46					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222933	45222933	+	Silent	SNP	C	C	T	rs148542783		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:45222933C>T	ENST00000242249.4	+	3	407	c.369C>T	c.(367-369)atC>atT	p.I123I	RAMP3_ENST00000481345.1_Silent_p.I123I|RAMP3_ENST00000496212.1_Silent_p.I123I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	123					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCCCGCTGATCGTTATACCCG	0.617000													73	156					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748373	111748373	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111748373A>G	ENST00000261726.6	+	15	1941	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	596						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						GCCCGGCCCAAGCCCTGGCGC	0.597000													51	81					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175843197	175843197	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:175843197C>T	ENST00000310418.4	-	1	373	c.168G>A	c.(166-168)caG>caA	p.Q56Q	CLTB_ENST00000345807.2_Silent_p.Q56Q	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	56					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TGGGGCCCGGCTGCGCGGGGG	0.761000													6	7					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321303	106321303	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106321303G>A	ENST00000390559.2	-	0	685																											GGCAAAGGATGGGGGGATGGC	0.597000													12	180					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145580114	145580114	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145580114G>A	ENST00000331890.5	-	7	1135	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.S351S	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	357					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCTCCTCTAGGCTAGGGAAGC	0.642000													21	58					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249950	177249950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177249950G>A	ENST00000361539.4	+	8	1950	c.1638G>A	c.(1636-1638)tgG>tgA	p.W546*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		546						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCCTTCCTGGAGGAAGCGCA	0.537000													9	16					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515952	51515952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:51515952G>A	ENST00000328188.1	+	1	671	c.671G>A	c.(670-672)aGg>aAg	p.R224K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCTCCCTAAGGACTCATAGC	0.483000													14	46					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124817556	124817556	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:124817556T>G	ENST00000334705.7	+	19	2105	c.1859T>G	c.(1858-1860)tTt>tGt	p.F620C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.F620C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	620										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CCATTTCCATTTGATGAAACA	0.338000													6	32					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679272	87679272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:87679272G>A	ENST00000320005.5	-	6	780	c.733C>T	c.(733-735)Caa>Taa	p.Q245*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	245					signal transduction|visual perception	integral to membrane	cGMP binding	p.Q245E(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						TCTGCGGTTTGATATGGGAAG	0.433000													27	50					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458822	234458822	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:234458822C>T	ENST00000366618.3	+	8	1451	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	SLC35F3_ENST00000366617.3_Silent_p.L367L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	367					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CATCATCGGCCTGGGTTTTCT	0.552000													19	59					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44011004	44011004	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44011004A>G	ENST00000292147.2	-	7	829	c.763T>C	c.(763-765)Tga>Cga	p.*255R		NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	0						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				AAGTGAGATCAGGCAGTGGGT	0.522000													25	71					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605209	142605209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:142605209G>A	ENST00000370503.2	-	1	94	c.11C>T	c.(10-12)cCa>cTa	p.P4L		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	4										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGAAGTTGGCTGTTCCAT	0.463000													101	28					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455240	76455240	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76455240G>C	ENST00000389840.5	-	61	9786	c.9662C>G	c.(9661-9663)tCc>tGc	p.S3221C	DNAH17_ENST00000585328.1_Missense_Mutation_p.S3230C|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)			GGCGGCCGTGGACTTGGAGCG	0.657000													226	270					0	0	1	0	0
PNRC1	10957	broad.mit.edu	37	6	89790798	89790798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:89790798G>A	ENST00000336032.3	+	1	302	c.185G>A	c.(184-186)gGg>gAg	p.G62E	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CATTTCCTAGGGGGAGATGGC	0.711000										Multiple Myeloma(7;0.094)			12	45					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673270	54673270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54673270C>T	ENST00000376591.4	-	3	571	c.440G>A	c.(439-441)tGg>tAg	p.W147*	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Nonsense_Mutation_p.W141*	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	147						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTCAGTGTCCACGCCCAGGG	0.642000													38	60					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310292	56310292	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56310292A>C	ENST00000528616.2	-	1	465	c.442T>G	c.(442-444)Tat>Gat	p.Y148D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CCATAGACATAGGGAAATGTG	0.522000													10	18					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103403	52103403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:52103403C>T	ENST00000361781.2	-	7	1431	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.E158K	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	164					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.E158K(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGTACTCGTTCGTGGACGACC	0.493000													13	19					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89800407	89800407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89800407G>A	ENST00000289816.5	+	9	1522	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	ZNF276_ENST00000443381.2_Missense_Mutation_p.D479N|ZNF276_ENST00000568064.1_Missense_Mutation_p.D387N|ZNF276_ENST00000446326.2_Missense_Mutation_p.D265N	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTTCATGATCGACCGCTACCT	0.627000													29	41					0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357140	82357140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:82357140C>T	ENST00000256103.2	-	2	294	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	53						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			ACTTTCAGTTCGTATAGTTAT	0.378000													27	48					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46423311	46423311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46423311G>A	ENST00000336915.6	-	4	305	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SKAP1_ENST00000584924.1_Missense_Mutation_p.S79F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	79					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGATGTGAGGGACAGGCCAAG	0.463000													30	48					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250448	177250448	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177250448C>T	ENST00000361539.4	+	8	2448	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		712						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTCAAGGTTCCCAGGACTCTG	0.517000													59	91					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616729	248616729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248616729C>T	ENST00000342927.3	+	1	653	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GCTGCTTATCCCTCTATCTGT	0.532000													30	146					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39908021	39908021	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39908021C>T	ENST00000325301.2	+	4	736	c.312C>T	c.(310-312)acC>acT	p.T104T	SMCR7L_ENST00000402881.1_Silent_p.T104T|SMCR7L_ENST00000404569.1_Silent_p.T104T	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		104						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACTCCTCCACCTTCGACACAG	0.597000													53	97					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49983634	49983634	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49983634C>T	ENST00000595510.1	+	6	616	c.315C>T	c.(313-315)ctC>ctT	p.L105L	FLT3LG_ENST00000204637.2_Silent_p.L105L|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_Silent_p.L187L|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Silent_p.L169L|FLT3LG_ENST00000600429.1_Silent_p.L187L|FLT3LG_ENST00000594009.1_Silent_p.L187L			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	187					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCCCTCTGCTCCTCCTACTGC	0.726000													7	24					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961584	85961584	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:85961584G>A	ENST00000383699.3	+	6	1218	c.591G>A	c.(589-591)ctG>ctA	p.L197L	CADM2_ENST00000407528.2_Silent_p.L188L|CADM2_ENST00000405615.2_Silent_p.L190L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	188	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCAGCACACTGGACTTCCGAG	0.443000													24	53					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511027	73511027	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73511027T>C	ENST00000394957.3	-	7	977	c.919A>G	c.(919-921)Aac>Gac	p.N307D	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	307						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACCTCAAAGTTTGGAGAGTCA	0.617000													4	13					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231268	21231268	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21231268C>T	ENST00000233242.1	-	26	8599	c.8472G>A	c.(8470-8472)ctG>ctA	p.L2824L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2824					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGACTCCTTCAGAGCCAGCG	0.423000													50	122					0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17506047	17506047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:17506047G>A	ENST00000281243.5	-	3	429	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	QDPR_ENST00000508623.1_Missense_Mutation_p.L84F|QDPR_ENST00000428702.2_Missense_Mutation_p.L53F|QDPR_ENST00000513615.1_Missense_Mutation_p.L84F	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	84					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCAACGCAAAGAATTGCATCC	0.468000													24	53					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36784449	36784449	+	Missense_Mutation	SNP	G	G	A	rs61733919		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36784449G>A	ENST00000361475.2	-	3	406	c.233C>T	c.(232-234)cCa>cTa	p.P78L	TGM2_ENST00000536724.1_Missense_Mutation_p.P18L|TGM2_ENST00000536701.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	78					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATCTCTTAGTGGAAAACGGGC	0.672000													17	36					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623203	119623203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:119623203C>T	ENST00000368468.3	-	4	1207	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E279K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	256					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)		TCTTCAAATTCATGTTTCATT	0.274000													12	15					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149999715	149999715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:149999715G>A	ENST00000370377.3	-	2	236	c.119C>T	c.(118-120)tCc>tTc	p.S40F	CD99L2_ENST00000437787.2_Missense_Mutation_p.S40F|CD99L2_ENST00000320893.6_Missense_Mutation_p.S40F|CD99L2_ENST00000466436.1_Missense_Mutation_p.S40F|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.S40F	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	40					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTACTGAGGAAGTTTCTTT	0.294000													53	12					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491335	65491335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65491335C>T	ENST00000261883.4	-	9	1455	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	430					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGGCAGCGTCCCACGTCATA	0.527000													31	66					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81244351	81244351	+	Missense_Mutation	SNP	G	G	A	rs140809152		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:81244351G>A	ENST00000555265.1	-	16	2626	c.2251C>T	c.(2251-2253)Cgt>Tgt	p.R751C	CEP128_ENST00000281129.3_Missense_Mutation_p.R751C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	751						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGCTGACCACGATGAATTTTA	0.368000													36	36					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1394015C>T	ENST00000446702.2	+	12	1999	c.1372C>T	c.(1372-1374)Ctc>Ttc	p.L458F	CNTN6_ENST00000350110.2_Missense_Mutation_p.L458F|CNTN6_ENST00000539053.1_Missense_Mutation_p.L386F			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323000													15	31					0	0	1	0	0
RP11-481J13.1	0	broad.mit.edu	37	2	56216122	56216122	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:56216122C>T	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA																							TAGCATAATCCCAGAGACCAC	0.433000													36	124					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36384808	36384808	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36384808G>A	ENST00000373204.4	+	18	2631	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	AGO1_ENST00000373206.1_Silent_p.L731L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ATGCCCGCCTGGTGGCTTTCC	0.572000													16	30					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327511	21327511	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21327511G>A	ENST00000256958.2	+	4	323	c.226_splice	c.e4-1	p.G76_splice		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	76					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCCTTTCTAGGAAATTTGCTT	0.358000													11	16					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519172	149519172	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:149519172G>A	ENST00000378016.2	+	0	12976							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)			CTGCGGCCCGGGCCTGGCCTC	0.721000													6	27					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82868563	82868563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:82868563G>A	ENST00000298281.4	+	1	534	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	28	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCGCTCGAAGACCTGACCTT	0.632000													38	87					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84647985	84647985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:84647985G>A	ENST00000370689.2	+	3	475	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	PRKACB_ENST00000370685.3_Missense_Mutation_p.A118T|PRKACB_ENST00000370682.3_Missense_Mutation_p.A75T|PRKACB_ENST00000394839.2_Missense_Mutation_p.A74T|PRKACB_ENST00000370680.1_Missense_Mutation_p.A77T|PRKACB_ENST00000394838.2_Missense_Mutation_p.A78T|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370688.3_Missense_Mutation_p.A71T	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	71	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACAGTATTATGCCATGAAGAT	0.353000													15	52					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478120	125478120	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:125478120C>T	ENST00000392708.4	+	9	1056	c.897C>T	c.(895-897)ttC>ttT	p.F299F	STT3A_ENST00000531491.1_Silent_p.F207F|STT3A_ENST00000529196.1_Silent_p.F299F	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	299					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AAGTTCTTTTCCGGAGCGTCA	0.493000													26	39					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777489	43777489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43777489C>A	ENST00000372476.3	+	10	1560	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	TIE1_ENST00000433781.2_Nonsense_Mutation_p.S139*	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	494	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGGACTGGTCGACCATTGTG	0.602000													41	58					7.05377e-20	7.18748e-20	1	1	0
RBPJ	3516	broad.mit.edu	37	4	26432342	26432342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:26432342C>T	ENST00000342320.4	+	11	1350	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	RBPJ_ENST00000342295.1_Missense_Mutation_p.P406S|RBPJ_ENST00000348160.4_Missense_Mutation_p.P393S|RBPJ_ENST00000504907.1_Missense_Mutation_p.P357L|RBPJ_ENST00000507561.1_Missense_Mutation_p.P371S|RBPJ_ENST00000355476.3_Missense_Mutation_p.P392S|RBPJ_ENST00000361572.6_Missense_Mutation_p.P406S|RBPJ_ENST00000345843.3_Missense_Mutation_p.P391S			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	406	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTGTGTCGTCCCAGACATTTC	0.423000													15	62					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61600305	61600305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61600305G>A	ENST00000238508.3	+	7	716	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CAGTGCAAATGATGTTTATGA	0.363000													41	65					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027273	37027273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37027273G>A	ENST00000358047.3	+	1	842	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCGAGACTGGAGT	0.612000													49	18					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098765	133098765	+	Silent	SNP	C	C	T	rs144699523	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:133098765C>T	ENST00000515826.1	+	3	333	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TMEM108_ENST00000321871.6_Silent_p.P70P|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.P70P			Q6UXF1	TM108_HUMAN	transmembrane protein 108	70	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCCAATCCCGATGGACCCC	0.627000													66	120					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905572	180905572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:180905572C>T	ENST00000367588.4	+	5	2582	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P464S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	843										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGTGGGTATCCCTCGGCCTCC	0.652000													34	58					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197118738	197118738	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197118738C>T	ENST00000260983.2	-	19	3617	c.3435G>A	c.(3433-3435)gaG>gaA	p.E1145E	HECW2_ENST00000409111.1_Silent_p.E789E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1145					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACGACATTATCTCTTCTTCAA	0.493000													33	65					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42588400	42588400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42588400C>T	ENST00000381668.5	-	9	919	c.688G>A	c.(688-690)Gat>Aat	p.D230N	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D230N	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	230					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAACAAAATCGTAGAGATGT	0.393000													14	48					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802297	33802297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:33802297G>A	ENST00000260908.7	-	4	1529	c.1412C>T	c.(1411-1413)cCt>cTt	p.P471L	SLFN12L_ENST00000449046.1_Missense_Mutation_p.P502L|SLFN12L_ENST00000361112.4_Missense_Mutation_p.P500L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	503						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGGACTGGAGGCTTGTCCTG	0.453000													24	34					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715170	55715170	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55715170A>G	ENST00000379668.2	+	1	825	c.787A>G	c.(787-789)Aaa>Gaa	p.K263E		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	263					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						ACCCTCAGCAAAAGATAGAGT	0.433000													64	110					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215868952	215868952	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:215868952C>T	ENST00000272895.7	-	20	2883	c.2664G>A	c.(2662-2664)ttG>ttA	p.L888L	ABCA12_ENST00000389661.4_Silent_p.L570L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	888					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)		CTATCTGTTTCAATAGTTCAA	0.338000													14	33					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494882	1494882	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:1494882G>A	ENST00000283415.3	-	3	558	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	142					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGTCACAGGGATGGCGTCGA	0.657000													8	78					0	0	1	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171568	98171568	+	RNA	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98171568A>C	ENST00000443455.1	-	0	1236							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GCTGTATTCAAAGCAGAATCT	0.323000													14	27					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029408	79029408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79029408C>T	ENST00000446378.2	+	2	4851	c.4820C>T	c.(4819-4821)cCa>cTa	p.P1607L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1607						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGAGACTTCCCATCAGAAAAA	0.453000													55	49					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157798	26157798	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:26157798G>A	ENST00000325250.1	+	2	883	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	232	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATGCCGATAGGAAGCACTTCC	0.493000													16	6					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76481750	76481750	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76481750C>T	ENST00000389840.5	-	47	7447	c.7323G>A	c.(7321-7323)ggG>ggA	p.G2441G	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.G2450G|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)			TCCCCGCGTTCCCCACCAGCA	0.607000													35	83					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035986	110035986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110035986C>T	ENST00000453089.2	+	5	2964	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P726S|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P727S			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	726							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGGCGACTACCCCTCTCCTCC	0.587000													46	108					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625297	140625297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140625297G>A	ENST00000231173.3	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		51	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D51delD(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCCAATGACCTAGGGCT	0.562000													16	65					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29141779C>T	ENST00000377167.2	+	1	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTCATATGATCGTTATGTAGC	0.448000													86	241					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634247	32634247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32634247C>T	ENST00000242310.4	-	1	1420	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	444					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTTTGTCCCTTTGTGTTT	0.478000													52	188					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53166002	53166002	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53166002A>G	ENST00000332411.2	-	5	1066	c.1013T>C	c.(1012-1014)gTg>gCg	p.V338A		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	338	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGACAGAACCACAGACGTGTC	0.567000													18	55					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9871028	9871028	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:9871028G>A	ENST00000383827.1	+	4	3148	c.867G>A	c.(865-867)cgG>cgA	p.R289R	TTLL3_ENST00000455274.1_Silent_p.R289R|ARPC4-TTLL3_ENST00000397256.1_Silent_p.R562R|TTLL3_ENST00000426895.4_Silent_p.R644R|TTLL3_ENST00000427853.3_Silent_p.R289R|TTLL3_ENST00000430793.1_Silent_p.R289R|TTLL3_ENST00000547186.1_Silent_p.R501R|TTLL3_ENST00000397241.1_Silent_p.R289R			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	501	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCATTGACCGGATGCTGGACC	0.612000													45	120					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181459	19181459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19181459C>T	ENST00000375371.3	-	3	526	c.505G>A	c.(505-507)Gat>Aat	p.D169N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	169					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)	CGCAGCTCATCGCTGATGGCG	0.642000													30	33					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562455	55562455	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:55562455T>C	ENST00000262134.5	+	3	662	c.478T>C	c.(478-480)Tta>Cta	p.L160L		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	160					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TGTAGCTGGGTTACCTTCTAT	0.403000													58	75					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174929	193174929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:193174929C>T	ENST00000342695.4	-	16	2097	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G573E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	592					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GATTGCAATTCCTTCCACTGG	0.473000													99	47					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490827	19490827	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19490827C>T	ENST00000396229.2	+	14	2993	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	TMC5_ENST00000564959.1_Silent_p.S431S|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Silent_p.S748S|TMC5_ENST00000541464.1_Silent_p.S696S|TMC5_ENST00000219821.5_Silent_p.S502S|TMC5_ENST00000381414.4_Silent_p.S748S|TMC5_ENST00000561503.1_Silent_p.S389S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	748						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAGTCAATTCCTTCCTGGGGG	0.463000													75	103					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023510	206023510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:206023510C>T	ENST00000406610.2	+	11	1706	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.P500L|PARD3B_ENST00000462231.1_Missense_Mutation_p.P500L|PARD3B_ENST00000349953.3_Missense_Mutation_p.P500L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	500	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTGAGATCCCCCTGAATGAT	0.463000													56	113					0	0	1	0	0
ODF3	113746	broad.mit.edu	37	11	198237	198237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:198237G>A	ENST00000325113.4	+	4	666	c.349G>A	c.(349-351)Gac>Aac	p.D117N	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.D117N	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	117					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTACGTGTTCGACTCAGCACC	0.597000													10	24					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925984	118925984	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118925984G>C	ENST00000404233.3	-	5	456	c.332C>G	c.(331-333)cCc>cGc	p.P111R	HYOU1_ENST00000529972.1_Missense_Mutation_p.P111R|HYOU1_ENST00000543287.1_Missense_Mutation_p.P24R|HYOU1_ENST00000525859.1_Missense_Mutation_p.P111R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	111						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGCTACATGGGGGTTATCTGC	0.542000													42	106					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125390	103125390	+	Missense_Mutation	SNP	C	C	T	rs146323025		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:103125390C>T	ENST00000295269.4	+	6	1943	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	496					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R496C(1)		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						GCTTCATATTCGTGTAAGTTA	0.378000													24	53					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221224	63221224	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:63221224G>A	ENST00000449996.3	+	18	1575	c.1503G>A	c.(1501-1503)agG>agA	p.R501R	RGS9_ENST00000443584.3_Silent_p.R501R|RGS9_ENST00000262406.9_Silent_p.R504R	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	504					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						GCTCCCCCAGGAAGCCTTTCG	0.662000													156	145					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186006	143186006	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:143186006A>T	ENST00000316549.6	-	12	1550	c.1342T>A	c.(1342-1344)Tta>Ata	p.L448I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	448					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						CGAATAGCTAAGGCAAATGCG	0.433000													45	19					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190868	48190868	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:48190868C>T	ENST00000400384.2	+	2	1576	c.540C>T	c.(538-540)tcC>tcT	p.S180S	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000592595.1_Silent_p.S180S|MAPK4_ENST00000588540.1_Silent_p.S180S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	180	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCATTACTCCCACAAGGTAT	0.517000													48	111					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400005	13400005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:13400005C>T	ENST00000284110.1	-	2	1527	c.730G>A	c.(730-732)Gac>Aac	p.D244N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.D42N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	244						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCACCGGGTCCCGCACCACC	0.632000													43	39					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128453	119128453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:119128453G>A	ENST00000264245.4	+	11	2288	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	586					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCACCTGGAGGAGAAGAAAAC	0.552000													10	22					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99168299	99168299	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:99168299C>T	ENST00000401707.2	+	15	2160	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	POP1_ENST00000349693.3_Silent_p.P693P	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	693					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAAAACGGCCCAACTACGTTA	0.433000													45	151					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850388	40850388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:40850388C>T	ENST00000255224.3	-	4	1564	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.G381E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493000													92	170					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22246207	22246207	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:22246207G>A	ENST00000382353.5	+	1	686	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	52					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCGCAGTCACGGACTTGGATC	0.557000													56	28					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4920518C>T	ENST00000433855.1	+	1	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_ENST00000280684.3_Silent_p.I437I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)			40	82					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330535	75330535	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:75330535C>T	ENST00000556084.2	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	PROX2_ENST00000445876.1_Start_Codon_SNP_p.M1I|PROX2_ENST00000556489.2_Start_Codon_SNP_p.M1I	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	1					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTTTGGATCCATCCCAGGCA	0.547000													3	42					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19076956	19076956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:19076956G>A	ENST00000545799.1	-	2	327	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Nonsense_Mutation_p.Q43*			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	43	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGGATGCACTGGATGGTGCCG	0.617000													30	65					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296451	28296451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:28296451C>T	ENST00000284987.5	-	8	2835	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	905	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTTCCGGTTTCCATCCTGGCA	0.532000													17	52					0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007464	107007464	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:107007464C>T	ENST00000484422.1	+	0	313																											TCCACTTCTCCCCGCAGACCT	0.463000													8	7					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505078	70505078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:70505078G>A	ENST00000457664.2	-	1	280	c.281C>T	c.(280-282)tCc>tTc	p.S94F	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S295F|UGT2A1_ENST00000503640.1_Intron	NM_001105677.2	NP_001099147.2																					CTCAATTAAGGAATCTATATT	0.388000													20	51					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544086	126544086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126544086G>A	ENST00000339582.2	-	5	1766	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.Q320*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Q320*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Q320*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	320					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)	TCCTCTTGCTGATAGACAGGT	0.423000										HNSCC(24;0.065)			39	87					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710743	106710743	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:106710743T>C	ENST00000265717.4	+	2	584	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	109	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AATAAACCGATTCACAAGGCG	0.308000													51	40					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18729410	18729410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18729410C>T	ENST00000513874.1	-	20	3360	c.3221G>A	c.(3220-3222)cGa>cAa	p.R1074Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	679										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AAGCAAGATTCGGTACACCCC	0.527000													3	12					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079764	34079764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:34079764C>T	ENST00000254466.6	-	1	133	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.E36K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	36	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGTCTTCCTTCATGGCC	0.632000													39	65					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36171749	36171749	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:36171749C>T	ENST00000344691.4	-	5	2312	c.735G>A	c.(733-735)caG>caA	p.Q245Q	RUNX1_ENST00000399240.1_Silent_p.Q181Q|RUNX1_ENST00000325074.5_Silent_p.Q260Q|RUNX1_ENST00000300305.3_Silent_p.Q272Q|RUNX1_ENST00000437180.1_Silent_p.Q272Q	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	245	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATGGTTGGATCTGCCTTGTAT	0.453000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								23	54					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128357012	128357012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128357012G>A	ENST00000315184.5	+	2	448	c.395G>A	c.(394-396)tGg>tAg	p.W132*	FAM71F1_ENST00000485070.1_Missense_Mutation_p.M53I|FAM71F1_ENST00000469348.1_3'UTR	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	132										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AACCAGACATGGAACAGACCA	0.577000													21	55					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957189	35957189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:35957189C>T	ENST00000341959.2	-	1	962	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTTCACATCCTTGTTCCTC	0.507000													28	105					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532894	42532894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:42532894C>T	ENST00000282030.5	+	4	3885	c.3589C>T	c.(3589-3591)Ctc>Ttc	p.L1197F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1197						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)		AGACAAAGAGCTCCCGCTGGT	0.542000									Schinzel-Giedion syndrome				23	65					0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954903	117954903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:117954903C>T	ENST00000378279.3	+	2	476	c.431C>T	c.(430-432)tCc>tTc	p.S144F	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	144																	ACATCAGACTCCCAAAGCCCA	0.478000													43	71					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129179	83129179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:83129179C>T	ENST00000329312.4	+	4	1500	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	488					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAATGGAATCTGATTTGGAG	0.343000													9	4					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132259021	132259021	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:132259021G>A	ENST00000438378.2	+	0	971					NR_026922.1																						GCCCACCGAAGGCAGTGTGCC	0.607000													14	21					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282439	23282439	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23282439C>A	ENST00000397532.3	-	2	694	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F	SLC7A7_ENST00000397528.4_Missense_Mutation_p.V57F|SLC7A7_ENST00000285850.7_Missense_Mutation_p.V57F|SLC7A7_ENST00000555702.1_Missense_Mutation_p.V57F|SLC7A7_ENST00000397529.2_Missense_Mutation_p.V57F|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	57					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTGGGGGAAACAAAGATGCCC	0.577000													9	110					0.0809354	0.0810942	1	1	0
OR7D2	162998	broad.mit.edu	37	19	9297370	9297370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9297370C>T	ENST00000344248.2	+	1	1092	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	305					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GGGGAGTCTCCTCAGCAGGGC	0.507000													29	48					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783968	9783968	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:9783968T>C	ENST00000304374.2	+	1	711	c.315T>C	c.(313-315)ggT>ggC	p.G105G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	105					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTGGCCGGTTACTGGCCCT	0.612000													23	26					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768314	117768314	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117768314G>A	ENST00000317775.6	-	2	1246	c.561C>T	c.(559-561)ccC>ccT	p.P187P	NOS1_ENST00000338101.4_Silent_p.P187P|NOS1_ENST00000344089.3_Silent_p.P187P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	187	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				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)	CTTTCTTCGCGGGGTCCTGGC	0.632000													65	123					0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968450	72968450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72968450G>A	ENST00000311755.3	-	3	789	c.266C>T	c.(265-267)aCc>aTc	p.T89I						HIG1 hypoxia inducible domain family, member 2B																		GGCTGCAATGGTGAAGCCCTG	0.577000													12	16					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162622179	162622179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:162622179G>A	ENST00000366898.1	-	4	620	c.518C>T	c.(517-519)aCg>aTg	p.T173M	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.T173M|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_De_novo_Start_InFrame|PARK2_ENST00000366897.1_Missense_Mutation_p.T173M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	173					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAAGGTGAGCGTTGCCTGCCT	0.463000													30	55					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19485449	19485449	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19485449C>T	ENST00000396229.2	+	12	2690	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TMC5_ENST00000564959.1_Silent_p.F330F|TMC5_ENST00000542583.2_Silent_p.F647F|TMC5_ENST00000541464.1_Silent_p.F595F|TMC5_ENST00000219821.5_Silent_p.F401F|TMC5_ENST00000381414.4_Silent_p.F647F|TMC5_ENST00000561503.1_Silent_p.F288F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	647						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCTGCAGTTCCTGAAGACAC	0.522000													54	173					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007562	170007562	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:170007562A>G	ENST00000367765.1	-	5	1767	c.266T>C	c.(265-267)gTt>gCt	p.V89A	KIFAP3_ENST00000367767.1_Missense_Mutation_p.V85A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V51A|KIFAP3_ENST00000361580.2_Missense_Mutation_p.V129A	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	129					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGTTAGCAACTTCATCAAT	0.358000													51	133					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279304	85279304	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:85279304T>A	ENST00000450363.3	-	4	942	c.484A>T	c.(484-486)Att>Ttt	p.I162F	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.I162F|SLC6A15_ENST00000552192.1_Missense_Mutation_p.I55F	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	162					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCAGCCAATGATGACGTTG	0.378000													19	55					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56539571C>T	ENST00000390649.3	+	7	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	658						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)		CTGTCCCGTTCCCCTGGGGGT	0.587000													35	34					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207431961	207431961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207431961G>A	ENST00000264377.3	+	15	1737	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ADAM23_ENST00000374416.1_Missense_Mutation_p.R470Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.R470Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	470	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R470L(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCCATTCTCGAAAATTTTCA	0.358000													30	64					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69114938	69114938	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:69114938T>C	ENST00000229179.4	+	15	1624	c.1292T>C	c.(1291-1293)tTa>tCa	p.L431S	NUP107_ENST00000378905.2_Missense_Mutation_p.L280S|NUP107_ENST00000539906.1_Missense_Mutation_p.L402S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	431					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGCAGCTTTAAGTGGGAAT	0.244000													47	80					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162877	36162877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:36162877C>T	ENST00000378660.1	+	11	1648	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	CHDC2_ENST00000313548.4_Missense_Mutation_p.S487F					calponin homology domain containing 2																		atctctttctccctttggagc	0.433000													12	3					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99719914	99719914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:99719914G>A	ENST00000262932.3	+	2	283	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	51						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTACAGGCGGAACTGAGTCG	0.567000													45	117					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74942837	74942837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:74942837G>A	ENST00000262144.6	-	17	1811	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	561										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACACCGCCCGATGCATTGTC	0.562000													35	51					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345690	135345690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135345690C>T	ENST00000463117.2	+	6	822	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	CYP2E1_ENST00000252945.3_Missense_Mutation_p.L184F|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	184					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGCCGACATCCTCTTCCGCAA	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				45	114					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001493	49001493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49001493C>T	ENST00000600059.1	-	11	3060	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E974K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCCCATTCTCCGCCGCCTTC	0.632000													18	63					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499777	152499777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152499777G>A	ENST00000427231.2	-	58	8249	c.8047C>T	c.(8047-8049)Cag>Tag	p.Q2683*	NEB_ENST00000409198.1_Nonsense_Mutation_p.Q2683*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Q2683*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q2683*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q2683*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q2683*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2683					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCAAAATCTGGGTGGCTCGT	0.418000													41	65					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100052902	100052902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100052902G>A	ENST00000508393.1	-	7	818	c.653C>T	c.(652-654)tCg>tTg	p.S218L	ADH4_ENST00000265512.7_Missense_Mutation_p.S199L|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.S218L|ADH4_ENST00000423445.1_Missense_Mutation_p.S218L			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	199					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGCACAAGTCGAACCAGGGGT	0.458000													29	36					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853255	143853255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:143853255G>A	ENST00000507359.2	+	3	1956	c.865G>A	c.(865-867)Gat>Aat	p.D289N	KCTD16_ENST00000512467.1_Missense_Mutation_p.D289N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	289						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTCACACTGCGATTGCTGCTG	0.527000													10	77					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721542	10721542	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:10721542G>C	ENST00000283025.2	-	7	1427	c.1356C>G	c.(1354-1356)caC>caG	p.H452Q	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	452					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGCGAGCTCGTGCTCCAGCC	0.632000													39	43					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128354040	128354040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128354040C>T	ENST00000389524.4	+	19	2301	c.2248C>T	c.(2248-2250)Cat>Tat	p.H750Y	MYO7B_ENST00000409816.2_Missense_Mutation_p.H750Y|MYO7B_ENST00000428314.1_Missense_Mutation_p.H750Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	750	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTTCCAGGATCATCAGGACAC	0.617000													7	18					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871692	15871692	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:15871692G>A	ENST00000595525.1	+	0	508				CYP4F24P_ENST00000587443.2_RNA																							GAGTTGAAGCGGAAGGGGTTG	0.577000													32	28					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358287	72358287	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:72358287C>G	ENST00000441259.1	-	3	1350	c.1190G>C	c.(1189-1191)tGc>tCc	p.C397S	PRF1_ENST00000373209.2_Missense_Mutation_p.C397S	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	397	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGAGCCATGGCACACACACTG	0.687000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				6	22					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581115	56581115	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56581115A>G	ENST00000323456.5	-	15	1925	c.1801T>C	c.(1801-1803)Tct>Cct	p.S601P	MTMR4_ENST00000579925.1_Missense_Mutation_p.S544P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	601						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTCCAGAGAGCGGCCAGAG	0.473000													48	126					0	0	1	0	0
BLOC1S5	63915	broad.mit.edu	37	6	8064536	8064536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:8064536G>A	ENST00000397457.2	-	1	111	c.74C>T	c.(73-75)tCc>tTc	p.S25F	BLOC1S5_ENST00000543936.1_5'UTR|EEF1E1-MUTED_ENST00000397456.2_Intron	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1			biogenesis of lysosomal organelles complex-1, subunit 5, muted																		AGTCCCCAGGGAGTCCCTCTT	0.667000													27	40					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326748	61326748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61326748C>T	ENST00000283752.5	-	4	379	c.236G>A	c.(235-237)gGa>gAa	p.G79E	SERPINB3_ENST00000332821.8_Missense_Mutation_p.G79E|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	79					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGAACATTTCCTGACCTATC	0.378000													26	87					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36726373	36726373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:36726373C>T	ENST00000431169.1	-	2	454	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	AOAH_ENST00000535891.1_Intron|AOAH_ENST00000258749.5_Missense_Mutation_p.E52K	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	52	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCAAGCTGTTCTATTACAGAC	0.512000													32	68					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23653977	23653977	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:23653977C>T	ENST00000305877.8	+	19	4027	c.3276C>T	c.(3274-3276)tcC>tcT	p.S1092S	BCR_ENST00000359540.3_Silent_p.S1048S|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1092	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ACCGCGTGTCCGGTGTGGCCA	0.652000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								25	58					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351256	40351256	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:40351256C>T	ENST00000310169.2	+	4	862	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	241					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CGTTCTATATCGTCAACCTCC	0.527000													149	386					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778389	84778389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:84778389C>T	ENST00000219473.7	+	4	415	c.302C>T	c.(301-303)cCt>cTt	p.P101L	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.P105L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	101					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAAATAACCCCTGATGGTATC	0.498000													30	54					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320910	78320910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:78320910C>T	ENST00000466548.1	+	5	1138	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	SLAIN1_ENST00000351546.3_Missense_Mutation_p.P108L|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P152L|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P229L|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P152L|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P108L	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	371										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAGTATTTTCCTTCAAATAAT	0.453000													51	24					0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7235403	7235403	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:7235403G>A	ENST00000528056.1	+	0	1163					NR_028062.1															large_intestine(2)|lung(3)|skin(1)	6						GAAGAACGGGGCGAATGATGT	0.433000													16	11					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19073159	19073159	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19073159G>A	ENST00000421369.3	+	16	2394	c.1836G>A	c.(1834-1836)agG>agA	p.R612R	TMC7_ENST00000304381.5_Silent_p.R722R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGACATGAGGAACTAACTAG	0.423000													18	38					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45868998	45868998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45868998C>T	ENST00000443527.2	+	1	42	c.20C>T	c.(19-21)gCc>gTc	p.A7V	CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GTCCACGTCGCCTACCGGGGC	0.731000													7	15					0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101911949	101911949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101911949G>A	ENST00000421367.2	-	11	3693	c.986C>T	c.(985-987)tCt>tTt	p.S329F	ERLIN1_ENST00000407654.3_Missense_Mutation_p.S329F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	327					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGCCTCCTTAGAGGGGAGTGA	0.448000													13	20					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243069	50243069	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50243069G>A	ENST00000246801.3	-	11	1825	c.1743C>T	c.(1741-1743)acC>acT	p.T581T	TSKS_ENST00000358830.3_Silent_p.T381T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	581							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTTTTGGGGGGGTTCCTGCAC	0.542000													23	88					0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26596326	26596326	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:26596326T>C	ENST00000260585.7	+	5	521	c.402T>C	c.(400-402)gtT>gtC	p.V134V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	134					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										GGTCATGTGTTTACTTTGTTG	0.423000													11	23					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376113	2376113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2376113G>A	ENST00000301732.5	-	5	917	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	ABCA3_ENST00000567910.1_Missense_Mutation_p.P73S|ABCA3_ENST00000382381.3_Missense_Mutation_p.P73S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	73					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCCTGGCGGAGGGAAGGTG	0.582000													4	54					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68624324	68624324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:68624324G>A	ENST00000423218.2	-	14	1738	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	ITGA11_ENST00000315757.7_Missense_Mutation_p.S548L			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	548					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTCTCGAACTGAGGCAATGGA	0.522000													13	19					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411959	43411959	+	Missense_Mutation	SNP	C	C	T	rs146009558		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43411959C>T	ENST00000187910.2	-	4	819	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E252K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCCTTCTTCTCCCTGGGGTTT	0.507000													59	215					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628901	3628901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3628901G>A	ENST00000325418.4	+	1	1691	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	558	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGGCTTTATCGGGCTGAACTC	0.502000													39	23					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579402	55579402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55579402G>A	ENST00000333973.2	+	1	549	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V154L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGTGGGACGGTGTGTTCTCT	0.458000													38	94					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31917630	31917630	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:31917630T>C	ENST00000396184.3	-	6	649	c.445A>G	c.(445-447)Aac>Gac	p.N149D	PDE1C_ENST00000396193.1_Missense_Mutation_p.N209D|PDE1C_ENST00000321453.7_Missense_Mutation_p.N149D|PDE1C_ENST00000396191.1_Missense_Mutation_p.N149D|PDE1C_ENST00000396182.2_Missense_Mutation_p.N149D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	149					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)			CCAACCATGTTTGATGTCCGT	0.348000													25	44					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24647299	24647299	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24647299G>A	ENST00000311457.3	+	13	1463	c.864G>A	c.(862-864)agG>agA	p.R288R	REC8_ENST00000559919.1_Silent_p.R288R			O95072	REC8_HUMAN	REC8 meiotic recombination protein	289	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCAACAGAGGAGGCCCCCAG	0.617000													5	79					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42958731	42958731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:42958731C>T	ENST00000331373.5	+	4	295	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		14						integral to membrane	ATP binding|protein kinase activity										AGGCCTCGCCCCCCGAGAGGT	0.542000													48	95					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49856860	49856860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49856860C>T	ENST00000376088.3	+	15	3076	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	CLCN5_ENST00000376108.3_Missense_Mutation_p.S742F|CLCN5_ENST00000376091.3_Missense_Mutation_p.S812F|CLCN5_ENST00000307367.2_Missense_Mutation_p.S742F	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	742					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GATCCTGATTCCATTCTCTTC	0.373000													29	8					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31332543	31332543	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:31332543G>A	ENST00000542188.1	-	17	2458	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	TRPM1_ENST00000397795.2_Silent_p.F676F|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.F698F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	676					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAGCTGGCCGAAGTCTCTGG	0.522000													19	61					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9728436	9728436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:9728436C>T	ENST00000381844.4	-	3	603	c.440G>A	c.(439-441)gGa>gAa	p.G147E	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.G147E			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	147					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TTGGTAAGCTCCTTGGGAATT	0.378000													14	44					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19175919	19175919	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19175919G>A	ENST00000375371.3	-	4	1404	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	461					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)	CGCTCTGGAAGGGATTCTGGC	0.582000													24	57					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868827	14868827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14868827G>A	ENST00000380881.4	-	3	964	c.149C>T	c.(148-150)gCc>gTc	p.A50V	FREM1_ENST00000422223.2_Missense_Mutation_p.A50V|FREM1_ENST00000380880.3_Missense_Mutation_p.A50V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	50					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)		TTTAGGGATGGCAAACTTCAG	0.547000													4	12					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451761	29451761	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:29451761C>A	ENST00000389048.3	-	16	3710	c.2804G>T	c.(2803-2805)gGa>gTa	p.G935V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	935	Gly-rich.				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)	TATATATCCTCCGCCTCCTCC	0.622000			"""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				36	63					3.05275e-18	3.09825e-18	1	1	0
RPS4Y2	140032	broad.mit.edu	37	Y	22942837	22942837	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:22942837C>T	ENST00000288666.5	+	7	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	237					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CTTGGATTTCCCTGCCCAGGG	0.438000													25	11					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821191	43821191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43821191C>T	ENST00000389420.3	-	27	4026	c.4027G>A	c.(4027-4029)Gat>Aat	p.D1343N	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D461N|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D1343N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1343	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAGGCTGCATCGCAGTAACTA	0.473000													29	44					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189359	50189359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50189359C>T	ENST00000335999.6	-	8	2485	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	758										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGCTCCAGGTCCACCCGGGCC	0.662000													14	14					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099816	71099816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71099816C>T	ENST00000317987.5	+	4	282	c.170C>T	c.(169-171)cCa>cTa	p.P57L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	57	Pro-rich.					extracellular region											CCACCAATTCCATTTCCAAGA	0.403000													81	114					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795370	40795370	+	Silent	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:40795370T>G	ENST00000358268.2	-	5	897	c.369A>C	c.(367-369)tcA>tcC	p.S123S	LCA5L_ENST00000288350.3_Silent_p.S123S|LCA5L_ENST00000485895.2_Silent_p.S123S|LCA5L_ENST00000380671.2_Silent_p.S123S			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	123										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AATTAAAGAGTGATGCATTCC	0.343000													26	62					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480253	10480253	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10480253C>T	ENST00000382483.3	-	2	682	c.459G>A	c.(457-459)agG>agA	p.R153R	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	153					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)		TCAGCAGTATCCTCCGGGGGG	0.577000													54	75					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:52321203C>T	ENST00000356297.4	-	17	3081	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	994					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)				AACCGTGTTTCCCTCCCAGTG	0.637000													3	8					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783755	169783755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:169783755C>T	ENST00000263817.6	-	26	3653	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1177	ABC transporter 2.				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)	GTGTTGTCTCCATACTTGATA	0.433000													41	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579180	179579180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179579180C>T	ENST00000589042.1	-	91	26545	c.26321G>A	c.(26320-26322)gGa>gAa	p.G8774E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7530E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8457E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8457	Ig-like 70.						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)			AACGATTTCTCCCTTATCTTT	0.408000													9	27					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128452	119128452	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:119128452G>A	ENST00000264245.4	+	11	2287	c.1755G>A	c.(1753-1755)gaG>gaA	p.E585E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCACCTGGAGGAGAAGAAAA	0.552000													10	22					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146560419	146560419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:146560419C>T	ENST00000281317.5	+	2	1338	c.128C>T	c.(127-129)cCg>cTg	p.P43L	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	43						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGCTCAGCCGTTTAATTCT	0.418000													57	81					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857731	140857731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140857731C>T	ENST00000308177.3	+	1	2152	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTGCCCCCCGGGAGCAG	0.512000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	98					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762918	141762918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141762918C>T	ENST00000389484.3	-	15	3460	c.2489G>A	c.(2488-2490)gGg>gAg	p.G830E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	830	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAAGTTGTCCCATTTTCATC	0.418000										TSP Lung(27;0.18)			21	36					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170034445	170034445	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170034445A>T	ENST00000263816.3	-	53	10546	c.10261T>A	c.(10261-10263)Tat>Aat	p.Y3421N	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3421					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)	TCTGTCCAATAAATAGTGTCT	0.443000													66	116					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683882	50683882	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50683882G>A	ENST00000442544.2	+	8	2034	c.1418_splice	c.e8+1	p.R473_splice	DCC_ENST00000581580.1_Splice_Site_p.R128_splice|DCC_ENST00000412726.1_Splice_Site_p.R321_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	473	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTGACAACAGGTAGGTGATG	0.478000													21	27					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137902	72137902	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:72137902C>T	ENST00000555818.1	+	8	2670	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	SIPA1L1_ENST00000381232.3_Silent_p.F774F|SIPA1L1_ENST00000537413.1_Silent_p.F249F|SIPA1L1_ENST00000358550.2_Silent_p.F774F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	774	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGTCACTTTCCCTAAGTCAA	0.483000													17	138					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15267541	15267541	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:15267541G>A	ENST00000379554.3	+	13	1741	c.1695G>A	c.(1693-1695)gtG>gtA	p.V565V	INSC_ENST00000528567.1_3'UTR|INSC_ENST00000525218.1_Silent_p.V476V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.V518V|INSC_ENST00000530161.1_Silent_p.V518V|INSC_ENST00000424273.1_Silent_p.V476V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	565					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCGGCTGGTGGACTCCTTCT	0.542000													19	46					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441072	142441072	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:142441072G>A	ENST00000520105.1	+	5	1318	c.375G>A	c.(373-375)gaG>gaA	p.E125E	PTP4A3_ENST00000329397.1_Silent_p.E150E|PTP4A3_ENST00000521578.1_Silent_p.E150E|PTP4A3_ENST00000524028.1_Silent_p.E64E|PTP4A3_ENST00000349124.1_Silent_p.E125E			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	150	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCTACCTGGAGAAATACCGGC	0.597000													46	49					0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225477	51225477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:51225477G>A	ENST00000602930.1	-	9	2006	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	AGAP8_ENST00000425119.2_Missense_Mutation_p.P502L	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 8	502	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GAGCTCAACTGGCCAGTCATC	0.527000													70	135					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46202122	46202122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46202122C>T	ENST00000012049.5	+	5	1071	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	QPCTL_ENST00000366382.4_Missense_Mutation_p.R190C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	284					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCACTTCCCTCGCACGGTCCG	0.622000													26	119					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:1152973G>A	ENST00000360001.6	-	7	1270	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	336	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642000													25	45					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508577	123508577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:123508577G>A	ENST00000223026.4	+	3	888	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	HYAL4_ENST00000476325.1_Missense_Mutation_p.G84R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	84					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAGGCCAGGGGGCAAAATGT	0.408000													18	68					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498463	118498463	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118498463C>T	ENST00000361417.2	+	7	1335	c.924C>T	c.(922-924)tcC>tcT	p.S308S	PHLDB1_ENST00000356063.5_Silent_p.S308S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	308										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTGCTCGCTCCGAGAGTCCTC	0.667000													16	41					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215218	141215218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141215218G>A	ENST00000389484.3	-	61	10599	c.9628C>T	c.(9628-9630)Cct>Tct	p.P3210S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3210					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTGATTAGGGACTGTAATA	0.403000										TSP Lung(27;0.18)			37	71					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063657	54063657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54063657C>T	ENST00000338662.5	-	3	1368	c.163G>A	c.(163-165)Gag>Aag	p.E55K	ATP5G2_ENST00000549164.1_Missense_Mutation_p.E39K|ATP5G2_ENST00000602871.1_Missense_Mutation_p.E39K|ATP5G2_ENST00000394349.3_Missense_Mutation_p.E96K	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	39					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TAAGGTACCTCATCTGTCAGT	0.552000													23	73					0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6628278	6628278	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:6628278T>C	ENST00000396706.2	+	8	1215	c.772T>C	c.(772-774)Ttc>Ctc	p.F258L	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.F258L|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.F258L|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.F258L|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.F258L|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.F258L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	258						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGGATTGTCTTCATGCTGGG	0.512000													78	183					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558485	113558485	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:113558485G>A	ENST00000284601.3	-	1	635	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	189	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAATCTTAAAGGAGAACTGGT	0.328000													22	53					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98533273	98533273	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:98533273C>T	ENST00000359863.4	+	28	4295	c.4086C>T	c.(4084-4086)ctC>ctT	p.L1362L	TRRAP_ENST00000355540.3_Silent_p.L1362L|TRRAP_ENST00000446306.3_Silent_p.L1361L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1362					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCGTCACTCGTACCTTTAC	0.378000													26	23					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672006	39672006	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:39672006A>G	ENST00000398930.1	+	4	1177	c.823A>G	c.(823-825)Aag>Gag	p.K275E	KCNJ15_ENST00000398932.1_Missense_Mutation_p.K275E|KCNJ15_ENST00000398938.2_Missense_Mutation_p.K275E|KCNJ15_ENST00000328656.3_Missense_Mutation_p.K275E|KCNJ15_ENST00000398934.1_Missense_Mutation_p.K275E			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	275					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						CCTAAAGGAGAAGGAGTTTGA	0.537000													22	43					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621276	56621276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56621276C>T	ENST00000321691.3	-	1	453	c.272G>A	c.(271-273)gGa>gAa	p.G91E	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	91										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTTCTTGGTCCAGTCTCGGG	0.542000													61	50					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181549757	181549757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:181549757C>T	ENST00000526775.1	+	6	961	c.796C>T	c.(796-798)Cac>Tac	p.H266Y	CACNA1E_ENST00000357570.5_Missense_Mutation_p.H217Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H217Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H266Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H266Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H266Y|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	266					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACCCCCCTCACCCATGTGG	0.507000													158	193					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41523981	41523981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:41523981G>A	ENST00000239882.3	-	5	804	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P140S	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	164					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GAGGCTCCCGGTGAGTCTGCA	0.468000													63	49					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272405	158272405	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:158272405C>T	ENST00000264192.3	-	8	985	c.864G>A	c.(862-864)aaG>aaA	p.K288K	CYTIP_ENST00000540637.1_Silent_p.K182K	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	288	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATCCCCCTCCTTGGGGATAA	0.537000													38	52					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248677	141248677	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:141248677G>A	ENST00000287008.3	-	2	507	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PCDH1_ENST00000503492.1_Silent_p.L120L|PCDH1_ENST00000456271.1_Silent_p.L120L|PCDH1_ENST00000394536.3_Silent_p.L120L|PCDH1_ENST00000536585.1_Silent_p.L98L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	120	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGCATTCACGGAGCCCCTCAC	0.592000													29	33					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483498	28483498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28483498G>A	ENST00000361902.1	-	1	72	c.23C>T	c.(22-24)tCc>tTc	p.S8F	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Missense_Mutation_p.S8F	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	8					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GACAAGACAGGAGGCCTGGAA	0.537000													23	57					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:8737765C>T	ENST00000378641.3	+	24	3071	c.2596C>T	c.(2596-2598)Cac>Tac	p.H866Y	PLCB1_ENST00000338037.6_Missense_Mutation_p.H866Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.H866Y|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	866					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498000													34	87					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129670503	129670503	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:129670503G>A	ENST00000421865.2	+	31	4546	c.4497G>A	c.(4495-4497)cgG>cgA	p.R1499R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1499	Laminin EGF-like 16.				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)		CTTGTCCACGGGGATATGAAG	0.443000													45	104					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50326721	50326721	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:50326721C>T	ENST00000394697.2	+	5	1012	c.672C>T	c.(670-672)atC>atT	p.I224I	ADCY7_ENST00000566433.2_Silent_p.I224I|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.I224I|ADCY7_ENST00000537579.1_Silent_p.I224I|ADCY7_ENST00000254235.3_Silent_p.I224I			P51828	ADCY7_HUMAN	adenylate cyclase 7	224					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCTGCGCATCGAGAAGCGCC	0.592000													30	112					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196602738C>T	ENST00000312428.6	-	65	12082	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.T477T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3994					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						TCACAAAATTCGTGGAATGGC	0.453000													36	52					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637478	142637478	+	Missense_Mutation	SNP	C	C	T	rs143475597	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142637478C>T	ENST00000409607.3	+	2	289	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	58						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TTTGTGGCCTCCTCAGTGGGT	0.552000													56	67					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72138966	72138966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72138966C>T	ENST00000268482.3	+	16	2701	c.2192C>T	c.(2191-2193)tCc>tTc	p.S731F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	731	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAAGCAGTCCTTGCAGGTG	0.597000													8	67					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769512	118769512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118769512G>A	ENST00000334801.3	-	8	5076	c.4112C>T	c.(4111-4113)cCc>cTc	p.P1371L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1371	Pro-rich.				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)		AGGCCGAGAGGGAGTCTGCTC	0.627000													13	25					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522468	31522468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31522468G>A	ENST00000331075.5	+	3	1427	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	INPP5J_ENST00000400294.2_Missense_Mutation_p.A93T|INPP5J_ENST00000405300.1_Missense_Mutation_p.A93T|INPP5J_ENST00000404390.3_Missense_Mutation_p.A92T|INPP5J_ENST00000412277.2_Missense_Mutation_p.A393T			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	460	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGACATGATCGCCATAGGGTG	0.662000													51	144					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11977055	11977055	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11977055C>T	ENST00000304030.2	+	1	284	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTGTGAACTTCACCCAGGAGG	0.493000													82	90					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117462069	117462069	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117462069C>A	ENST00000455858.2	+	9	1360	c.1287C>A	c.(1285-1287)ggC>ggA	p.G429G	FBXW8_ENST00000309909.5_Silent_p.G495G	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	495							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCGAGGAAGGCCTGGTGTCCG	0.557000													29	59					3.2961e-07	3.31775e-07	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45855602	45855602	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45855602G>A	ENST00000391945.4	-	22	2132	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ERCC2_ENST00000391944.3_Silent_p.A607A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	685					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGTCCCCACGGGCAAACCGCT	0.647000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	60					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70539472	70539472	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:70539472C>T	ENST00000260128.4	+	16	2595	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.I626I|SULF1_ENST00000419716.3_Silent_p.I626I|SULF1_ENST00000458141.2_Silent_p.I626I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	626					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACTCTATCCATTGTGAGA	0.388000													18	58					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9739711	9739711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:9739711G>A	ENST00000262441.5	+	3	814	c.301G>A	c.(301-303)Gat>Aat	p.D101N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	101					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CGGGACATTTGATCAGTACGT	0.448000													89	67					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88719738	88719738	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:88719738G>A	ENST00000301012.3	-	9	1121	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	364					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGACCCCACCGGGGGTCGGCT	0.667000													3	32					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541881	55541881	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55541881A>T	ENST00000220676.1	+	4	5587	c.5439A>T	c.(5437-5439)gaA>gaT	p.E1813D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1813					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)			AACCCCTTGAACTAAAATGCA	0.448000													9	21					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777580	44777580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44777580G>A	ENST00000391958.2	+	5	894	c.767G>A	c.(766-768)gGa>gAa	p.G256E	ZNF233_ENST00000334152.1_Missense_Mutation_p.G238E|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCCAATCAGGAGAGCAAACC	0.393000													16	60					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076171	11076171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:11076171C>T	ENST00000403050.3	+	9	2181	c.1729C>T	c.(1729-1731)Cgt>Tgt	p.R577C	PHF14_ENST00000445996.2_Missense_Mutation_p.R292C	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTCAGCTATTCGTAAACTTAT	0.473000													23	50					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101842130	101842130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101842130G>A	ENST00000360264.3	+	16	1996	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	CUX1_ENST00000556210.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R546Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R648Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	648					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTACCGAAACGAAGAAATGGG	0.453000													31	99					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31911996	31911996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31911996G>A	ENST00000556679.1	+	12	1491	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	C2_ENST00000469372.1_Missense_Mutation_p.G386E|C2_ENST00000442278.2_Missense_Mutation_p.G500E|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.G418E|CFB_ENST00000456570.1_Missense_Mutation_p.G479E|CFB_ENST00000477310.1_Missense_Mutation_p.G403E|C2_ENST00000299367.5_Missense_Mutation_p.G632E			P00751	CFAB_HUMAN	complement factor B	650	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTTAAGATGGGAGTGGAGGTG	0.493000													22	57					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820970	62820970	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:62820970C>T	ENST00000582986.1	-	0	188					NR_024386.1																						TCACGGATCCCACCAGCTTCT	0.532000													44	42					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101567	14101567	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:14101567C>T	ENST00000310358.7	+	0	1211							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGATTACCCTCGTGAGTAGAG	0.488000													15	42					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837163	196837163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196837163C>T	ENST00000312428.6	-	16	1961	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	621	Stem (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						TCAATCATATCAGTTACCTCC	0.408000													29	67					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204784	219204784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219204784G>A	ENST00000273077.4	+	4	436	c.385G>A	c.(385-387)Gac>Aac	p.D129N	PNKD_ENST00000258362.3_Missense_Mutation_p.D105N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.D69N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	129						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCTCTCGGACAACTACAG	0.647000													47	85					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191093011	191093011	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:191093011C>T	ENST00000392456.3	+	6	1199	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	242						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CGAAGAGATCCCTGTCATCCT	0.488000													22	26					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102656453	102656453	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:102656453G>A	ENST00000251808.3	+	13	1950	c.1612_splice	c.e13+1	p.V538_splice	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Splice_Site_p.V522_splice	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	538						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GACAAAGCGAGGTATCTCTCC	0.562000													14	14					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141027087	141027087	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:141027087C>T	ENST00000435817.2	-	9	756	c.705_splice	c.e9-1	p.A236_splice	FCHSD1_ENST00000522126.1_Splice_Site_p.A160_splice|FCHSD1_ENST00000522783.1_Splice_Site_p.A234_splice	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	236									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCAGGGCCTAGAGAGAA	0.572000													26	31					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59824980	59824980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:59824980G>A	ENST00000357637.5	-	5	698	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	PIGN_ENST00000400334.3_Missense_Mutation_p.R95W	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	95					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGACCTGGCCGAGATTCTGTT	0.383000													11	17					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259982	35259982	+	Silent	SNP	G	G	A	rs149329150		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:35259982G>A	ENST00000342280.4	+	2	256	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	56					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGTGTAACACGGCCCAGCCAG	0.602000													41	128					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2884977	2884977	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:2884977C>T	ENST00000254528.3	+	3	432	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	91	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAGTGAACTTCAGACCTAGAT	0.498000													31	50					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76501436	76501436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76501436C>T	ENST00000389840.5	-	31	5007	c.4883G>A	c.(4882-4884)gGa>gAa	p.G1628E	DNAH17_ENST00000585328.1_Missense_Mutation_p.G1629E					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)			GCTGTACATTCCCAGGCCCAC	0.557000													28	53					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075369	76075369	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:76075369G>A	ENST00000395215.3	+	0	1009																											AGGAGGAGTGGAGGGTGCGGG	0.582000													46	81					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766854	77766854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:77766854C>T	ENST00000521891.2	+	10	8145	c.7697C>T	c.(7696-7698)tCc>tTc	p.S2566F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2521F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2521F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2540F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2521						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAGTTCCTCCCACACCACA	0.493000										HNSCC(33;0.089)			19	67					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072354	75072354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:75072354C>T	ENST00000326665.5	-	10	1638	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E277K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	474	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						CTTGTCATTTCCTCCACAGCA	0.358000													42	71					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138047	31138047	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:31138047G>A	ENST00000538351.1	-	7	1894	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	ZNF438_ENST00000444692.2_Silent_p.T419T|ZNF438_ENST00000452305.1_Silent_p.T419T|ZNF438_ENST00000331737.6_Silent_p.T419T|ZNF438_ENST00000361310.3_Silent_p.T429T|ZNF438_ENST00000442986.1_Silent_p.T429T|ZNF438_ENST00000436087.2_Silent_p.T429T|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000413025.1_Silent_p.T429T	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTCAGGGTCCCCAGCT	0.428000													16	29					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3126851G>A	ENST00000400569.3	-	19	3172	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C|MYOM1_ENST00000356443.4_Missense_Mutation_p.R947C			P52179	MYOM1_HUMAN	myomesin 1	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(1)		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						ATTGAGTCACGAAAACTTTCA	0.423000													5	17					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999642	55999642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55999642C>T	ENST00000313264.4	-	1	1095	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATTTTTTTCATTGAGTCTT	0.333000													8	36					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070966	153070966	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153070966C>T	ENST00000164640.4	-	6	836	c.645G>A	c.(643-645)gaG>gaA	p.E215E	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Silent_p.E140E|PDZD4_ENST00000544474.1_Silent_p.E106E	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	215						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTGACTCTCAGGTCGGG	0.602000													51	14					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080487	54080487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54080487C>T	ENST00000253144.9	+	7	2006	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	ZNF331_ENST00000511593.2_Missense_Mutation_p.R225W|ZNF331_ENST00000411977.2_Missense_Mutation_p.R225W|ZNF331_ENST00000511154.1_Missense_Mutation_p.R225W|ZNF331_ENST00000513999.1_Missense_Mutation_p.R225W|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.R225W|ZNF331_ENST00000512387.1_Missense_Mutation_p.R225W	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	225					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)		AAAGGCCTTTCGGCGTGGTGA	0.473000			T	?	follicular thyroid adenoma								19	45					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084978	31084978	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31084978G>A	ENST00000376288.2	-	2	440	c.414C>T	c.(412-414)agC>agT	p.S138S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	138	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGAGTGAGAGCTGCTGCTCC	0.577000													15	26					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18739511	18739511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18739511C>T	ENST00000513874.1	-	9	1079	c.940G>A	c.(940-942)Gat>Aat	p.D314N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	314	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCCGCTTATCGCCCACGGAC	0.552000													43	103					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897037	175897037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:175897037G>A	ENST00000359240.3	+	5	1031	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	ADAM29_ENST00000445694.1_Missense_Mutation_p.G121R|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	121					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)		TACCTGTTTTGGGGGTTTTCA	0.428000													22	50					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21544721	21544721	+	Splice_Site	SNP	G	G	A	rs11620774		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21544721G>A	ENST00000298694.4	+	7	1963		c.e7-1		ARHGEF40_ENST00000298693.3_Splice_Site			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTGCCCTTAGGACTCAGGAG	0.517000													65	69					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459350	9459350	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9459350T>G	ENST00000379719.3	+	21	2460	c.2318T>G	c.(2317-2319)gTt>gGt	p.V773G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	773					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAGAGGTTAAGACAAGT	0.363000													15	24					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502736	64502736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:64502736C>T	ENST00000355086.3	+	16	2362	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A550V|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A590V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	613	Rho-GAP.				axon guidance	cytosol		p.A613V(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATGAGAGGGCGCTTCACATC	0.443000													41	83					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203457	140203457	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140203457G>A	ENST00000529859.1	+	1	2097	c.2097G>A	c.(2095-2097)ctG>ctA	p.L699L	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.L699L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.L699L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.687000													11	107					0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133294599	133294599	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:133294599C>T	ENST00000498926.2	+	5	670	c.612C>T	c.(610-612)atC>atT	p.I204I	PGAM5_ENST00000317555.2_Silent_p.I204I|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Silent_p.I55I|PGAM5_ENST00000543955.1_Silent_p.I55I|PGAM5_ENST00000541034.1_3'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	204						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GAGCCCGGATCGAGGCCGCCT	0.622000													31	81					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99699608	99699608	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:99699608G>T	ENST00000429084.1	+	2	322	c.164G>T	c.(163-165)aGg>aTg	p.R55M	AP4M1_ENST00000421755.1_Intron|AP4M1_ENST00000359593.4_Intron|AP4M1_ENST00000478501.1_3'UTR			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	49					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGGCGGGAGGCGGGTGAGG	0.667000													14	41					2.32078e-09	2.34142e-09	1	1	0
DCC	1630	broad.mit.edu	37	18	50976955	50976955	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50976955C>T	ENST00000442544.2	+	23	3931	c.3315C>T	c.(3313-3315)acC>acT	p.T1105T	DCC_ENST00000581580.1_Silent_p.T740T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1105					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGTGGTCACCGTTGGTGTCA	0.542000													29	44					0	0	1	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950226	201950226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:201950226C>T	ENST00000237889.4	+	3	508	c.185C>T	c.(184-186)tCc>tTc	p.S62F	NDUFB3_ENST00000433898.1_Missense_Mutation_p.S62F|NDUFB3_ENST00000454214.1_Missense_Mutation_p.S62F	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	62					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	AAGAGTGTTTCCTTTTCTGAT	0.353000													24	37					0	0	1	0	0
BCL2L2	599	broad.mit.edu	37	14	23778028	23778028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23778028G>A	ENST00000250405.5	+	4	665	c.436G>A	c.(436-438)Gag>Aag	p.E146K	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCCACAGGCGGAGTTCACAGC	0.602000													42	37					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662516	160662516	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160662516C>T	ENST00000366953.3	-	9	1749	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	497					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CGAAAACCATCAGCGGGAGCT	0.438000													31	56					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190771	49190771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:49190771G>A	ENST00000406846.2	-	10	1308	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	FSHR_ENST00000304421.4_Missense_Mutation_p.P371S|FSHR_ENST00000541117.1_Missense_Mutation_p.P133S|FSHR_ENST00000346173.3_Missense_Mutation_p.P335S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	397					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)	AGGAACCTGGGGACTGTGAGT	0.458000									Gonadal Dysgenesis, 46 XX				27	48					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420522	11420522	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11420522G>A	ENST00000381842.3	-	0	642				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.627000													14	278					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227923019	227923019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:227923019G>A	ENST00000366758.3	-	1	93	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.P32S|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	32										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				ACTTCCGCCGGAGCGGAAACG	0.721000													9	13					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128291379	128291379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128291379G>A	ENST00000368227.3	-	31	4733	c.4367C>T	c.(4366-4368)tCa>tTa	p.S1456L	PTPRK_ENST00000368207.3_Missense_Mutation_p.S1471L|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1457L|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1439L|PTPRK_ENST00000368215.3_Missense_Mutation_p.S1438L|PTPRK_ENST00000368213.5_Missense_Mutation_p.S1445L|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1461L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1438					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAACTAAGATGATTCCAGGTA	0.398000													25	58					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740103	62740103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62740103G>A	ENST00000371153.4	-	3	1051	c.673C>T	c.(673-675)Cca>Tca	p.P225S	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	225	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCAGCTCTGGAATCCGAGTT	0.567000													24	35					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103645099	103645099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:103645099G>A	ENST00000226578.4	-	3	397	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	MANBA_ENST00000505239.1_Missense_Mutation_p.L100F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	100					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACTCCCTCAAGAATCAAATTT	0.269000													6	29					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45960789	45960789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:45960789G>A	ENST00000432082.1	-	5	744	c.380C>T	c.(379-381)tCc>tTc	p.S127F	CCDC163P_ENST00000490551.3_3'UTR|CCDC163P_ENST00000502793.2_5'UTR																cervix(1)|endometrium(1)	2						TCTGGGCATGGAGCTGAAAGA	0.473000													18	62					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169764	49169764	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49169764G>A	ENST00000418109.1	-	4	488	c.324C>T	c.(322-324)atC>atT	p.I108I	LAMB2_ENST00000305544.4_Silent_p.I108I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	108	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTACATTCTGGATGCGATGGC	0.582000													43	71					0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113909184	113909184	+	Silent	SNP	C	C	T	rs142448695		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113909184C>T	ENST00000261731.3	-	1	693	c.120G>A	c.(118-120)tcG>tcA	p.S40S		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	40	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						AGCACTTCTCCGAGAGGTTGG	0.612000													11	41					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119338110	119338110	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:119338110C>T	ENST00000338891.7	-	5	1776		c.e5-1		FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000522284.1_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CATTTACTTTCTAAAATTAAA	0.323000													9	21					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1808278	1808278	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:1808278C>A	ENST00000539485.1	-	5	692	c.459G>T	c.(457-459)ctG>ctT	p.L153L	ATP8B3_ENST00000310127.6_Silent_p.L153L|ATP8B3_ENST00000526092.1_Silent_p.L100L|ATP8B3_ENST00000525591.1_Silent_p.L100L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	153					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		actgctcgtacaggttcagcg	0.597000													25	24					8.88839e-20	9.05387e-20	1	1	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187418	37187418	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37187418C>T	ENST00000425901.2	+	0	1260					NR_033753.2																						CCAGAGACACCTACAGAGGTT	0.473000													4	5					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640505	131640505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:131640505G>A	ENST00000368648.3	-	13	1292	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	EBF3_ENST00000355311.5_Missense_Mutation_p.P416L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	416					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)		GTGATTGCGGGGAACGCTGTA	0.642000													57	165					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613203	179613203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179613203C>T	ENST00000360870.5	-	46	14146	c.13924G>A	c.(13924-13926)Gaa>Aaa	p.E4642K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	756	Ig-like 26.						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)			TAATGTATTTCCTGCTGTTCC	0.368000													28	90					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253856	79253856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:79253856G>A	ENST00000272324.5	+	3	278	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	REG3G_ENST00000409471.1_Missense_Mutation_p.E32K|REG3G_ENST00000393897.2_Missense_Mutation_p.E32K	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	32					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCCAGAAGGAACTGCCCTC	0.532000													10	29					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676284	113676284	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113676284G>A	ENST00000263326.3	+	5	597	c.555G>A	c.(553-555)gaG>gaA	p.E185E	IL37_ENST00000311328.2_Silent_p.E159E|IL37_ENST00000353225.3_Silent_p.E145E|IL37_ENST00000349806.3_Silent_p.E124E|IL37_ENST00000352179.3_Silent_p.E164E	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	185					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGTAATGAGCCTGTTGGGG	0.493000													15	37					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921567	167921567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:167921567G>A	ENST00000357154.3	-	5	429	c.292C>T	c.(292-294)Cat>Tat	p.H98Y	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.H98Y|SPOCK3_ENST00000357545.4_Missense_Mutation_p.H95Y|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.H95Y|SPOCK3_ENST00000511269.1_Missense_Mutation_p.H95Y|SPOCK3_ENST00000504953.1_Missense_Mutation_p.H95Y|SPOCK3_ENST00000421836.2_Missense_Mutation_p.H47Y|SPOCK3_ENST00000535728.1_Missense_Mutation_p.H6Y|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.H98Y|SPOCK3_ENST00000506886.1_Missense_Mutation_p.H98Y|SPOCK3_ENST00000510741.1_Missense_Mutation_p.H95Y|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000541354.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	98					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CATACTTTATGGCGACTACAT	0.353000													17	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477511	179477511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179477511C>T	ENST00000589042.1	-	265	50161	c.49937G>A	c.(49936-49938)cGg>cAg	p.R16646Q	TTN_ENST00000460472.2_Missense_Mutation_p.R7581Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14078Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7706Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15005Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7773Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15005	Fibronectin type-III 21.						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)			TAGCTTCTCCCGGCAAAGCAC	0.433000													5	19					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272521	237272521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237272521C>T	ENST00000409907.3	-	15	2045	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	IQCA1_ENST00000309507.5_Missense_Mutation_p.E588K|IQCA1_ENST00000431676.2_Missense_Mutation_p.E550K			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	591							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCTCCCGTTTCGGTGCAGATG	0.512000													45	92					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:11058348C>T	ENST00000470054.1	-	0	324									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)		GGAGAGAAATCTCTTTATAAA	0.343000													6	118					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147012260	147012260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:147012260G>A	ENST00000265272.5	-	13	2226	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R566*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.R545*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	587						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)			TCTAGGTTTCGAAACTCCAGC	0.388000													65	86					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100087728	100087728	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:100087728A>T	ENST00000415585.2	+	11	1119	c.1097A>T	c.(1096-1098)tAc>tTc	p.Y366F	CSTF2_ENST00000372972.2_Missense_Mutation_p.Y346F|CSTF2_ENST00000486615.1_3'UTR			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	346	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCCAGAGGTTACTTGGGACCA	0.483000													22	4					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121868128	121868128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:121868128C>T	ENST00000377071.4	-	23	4046	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G693E|RNF34_ENST00000392464.2_Missense_Mutation_p.P452L|KDM2B_ENST00000536437.1_3'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1325					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCTACTTGCCCAAACTGGAC	0.463000													33	107					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28509498C>T	ENST00000564831.1	+	3	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C|APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000													5	3					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456398	27456398	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:27456398C>T	ENST00000264705.4	+	20	3372	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	CAD_ENST00000403525.1_Silent_p.D1007D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1070	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCTCAGTGACCTCGAGGTGG	0.582000													18	33					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303919	151303919	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S58S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552000													3	68					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101083	79101083	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:79101083A>T	ENST00000370751.4	+	5	964	c.785A>T	c.(784-786)gAc>gTc	p.D262V	IFI44L_ENST00000342282.3_Missense_Mutation_p.D4V|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	262						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGTTGTGTGACACTATGGGG	0.373000													27	82					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374610	163374610	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:163374610G>A	ENST00000332142.5	-	4	621	c.522C>T	c.(520-522)tcC>tcT	p.S174S	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.S174S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	174					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTGTGGTAAGGACTGCTTTC	0.403000													24	55					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155176	100155176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:100155176G>A	ENST00000263174.4	+	7	1735	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	PALMD_ENST00000605497.1_Missense_Mutation_p.D454N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	454	Poly-Glu.				regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGGAGGAGGATGAAGGAGA	0.483000													13	44					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101715405	101715405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101715405G>A	ENST00000261637.4	+	25	3213	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1013					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTATTCTGATGAGGTATTTAT	0.323000													28	68					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85724567	85724567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:85724567G>A	ENST00000322366.6	-	16	2890	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V	WDFY3_ENST00000295888.4_Missense_Mutation_p.A828V|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	828						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)		TTTCAGGTCGGCAACATTTTT	0.418000													15	56					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196749452G>A	ENST00000312428.6	-	35	5720	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1874					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						ATTAGTTCTCGAAGAATCTTA	0.383000													27	42					0	0	1	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815929	106815929	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106815929G>A	ENST00000390615.2	-	0	223																											CATAGCTACTGAAGGTGAATC	0.572000													5	8					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416133	86416133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86416133C>T	ENST00000361669.2	+	3	2124	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P214L|GRM3_ENST00000439827.1_Missense_Mutation_p.P342L|GRM3_ENST00000394720.2_Missense_Mutation_p.P340L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	342					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCCTCAACCCCTACAACAAC	0.607000													4	33					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739273	46739273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:46739273G>A	ENST00000306448.4	-	2	1691	c.578C>T	c.(577-579)tCa>tTa	p.S193L	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.S193L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	193					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGTATTTGAAACCTTTAT	0.448000													33	94					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588510	72588510	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72588510A>T	ENST00000392620.1	+	3	687	c.325A>T	c.(325-327)Aag>Tag	p.K109*	C17orf77_ENST00000328023.2_Nonsense_Mutation_p.K109*	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	109						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTAGGAGAAAAGAGGTGTCA	0.423000													75	70					0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67242286	67242286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67242286G>A	ENST00000409037.1	-	2	1110	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	LRRC29_ENST00000341546.3_Missense_Mutation_p.L72F|LRRC29_ENST00000409509.1_Missense_Mutation_p.L72F|LRRC29_ENST00000393992.1_Missense_Mutation_p.L72F			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	72										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGCAGCGTGAGCAGGGAGGGG	0.637000													55	49					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21036450G>A	ENST00000381545.3	+	13	1815	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.R532R|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B3_ENST00000553473.1_Silent_p.R532R|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000													18	57					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140992	104140992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:104140992C>T	ENST00000369983.3	+	39	5539	c.5279C>T	c.(5278-5280)cCa>cTa	p.P1760L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1760	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCAGAGATTCCATCTGAGCTG	0.627000													15	49					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872101	213872101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:213872101C>A	ENST00000457361.1	-	8	1732	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	IKZF2_ENST00000342002.2_Nonsense_Mutation_p.E528*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.E496*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.E450*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.E448*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.E522*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.E377*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATGTGTGCTCCCCTCGAACA	0.483000													32	51					2.05212e-20	2.09171e-20	1	1	0
NELL1	4745	broad.mit.edu	37	11	20805234	20805234	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20805234A>T	ENST00000298925.5	+	4	430	c.277A>T	c.(277-279)Aga>Tga	p.R93*	NELL1_ENST00000325319.5_Nonsense_Mutation_p.R65*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R65*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.R65*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	65	TSP N-terminal.				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						AGACATAGAAAGAGAGATCCA	0.448000													10	23					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459191	124459191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124459191G>A	ENST00000329446.4	-	1	147	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	39										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ATCCTGAAAGGAAGAGTTGGT	0.438000													15	32					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489155	73489155	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:73489155C>T	ENST00000314256.7	+	16	2452	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	KIAA0195_ENST00000579208.1_Silent_p.I337I|KIAA0195_ENST00000375248.5_Silent_p.I696I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	686					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACATGATCAGCCTCTTCA	0.637000													11	50					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48375124	48375124	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48375124A>C	ENST00000380518.3	-	37	2628		c.e37+1		COL2A1_ENST00000337299.6_Splice_Site|COL2A1_ENST00000493991.1_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)	GCAGACACTCACCGGAGCGCC	0.657000													5	19					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635321	7635321	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7635321C>T	ENST00000359156.4	-	14	3367	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	CD163_ENST00000541972.1_Silent_p.G1043G|CD163_ENST00000432237.2_Silent_p.G1055G|CD163_ENST00000396620.3_Silent_p.G1088G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1055					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						CCCCAAGGATCCCGACTGCAA	0.428000													41	75					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994365	208994365	+	Missense_Mutation	SNP	C	C	T	rs145041511		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:208994365C>T	ENST00000282141.3	-	2	89	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	18	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.E18K(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTGGTGGTTTCGTAGCTGCGG	0.522000													72	169					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472608	76472608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76472608C>T	ENST00000396423.2	+	9	1247	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	HNF4G_ENST00000354370.1_Missense_Mutation_p.H338Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	338					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCATCTCCATCATCCAATGCA	0.393000													29	44					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408224	2408224	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:2408224G>A	ENST00000381223.4	-	2	740	c.537C>T	c.(535-537)gcC>gcT	p.A179A	ZBED1_ENST00000381218.3_Silent_p.A179A|ZBED1_ENST00000381222.2_Silent_p.A179A|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	179						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.A179A(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCCGGACGGCCCCGTACT	0.627000													120	121					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89385095	89385095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:89385095G>A	ENST00000439576.2	+	5	1128	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ACAN_ENST00000561243.1_Missense_Mutation_p.E252K|ACAN_ENST00000352105.7_Missense_Mutation_p.E252K|ACAN_ENST00000559004.1_Missense_Mutation_p.E252K|ACAN_ENST00000558207.1_Missense_Mutation_p.E252K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	252					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)			CGAGGAGATGGAGGGTGAGCT	0.597000													30	73					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327526	28327526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28327526C>T	ENST00000377255.3	+	3	460	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.P55S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	55	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTTCCGCTACCCGGAGGCTGC	0.637000													32	46					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705349	60705349	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60705349C>T	ENST00000227880.3	-	7	1817	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	528					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CACCAAAGTCCTTGGGGCAGT	0.607000													7	19					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399629	47399629	+	Missense_Mutation	SNP	G	G	A	rs150346297		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47399629G>A	ENST00000310638.4	-	9	1242	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S405F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S404F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	404					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)	TTTGGGCAAGGAGCGCCCATC	0.557000													14	49					0	0	1	0	0
TMEM69	51249	broad.mit.edu	37	1	46158923	46158923	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:46158923T>A	ENST00000372025.4	+	3	1247	c.90T>A	c.(88-90)gaT>gaA	p.D30E	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	30						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGAACAGATATACTTTCTC	0.378000													134	199					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56758871	56758871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:56758871C>T	ENST00000381295.2	+	14	2066	c.1718C>T	c.(1717-1719)tCa>tTa	p.S573L	EXOC1_ENST00000349598.6_Missense_Mutation_p.S558L|EXOC1_ENST00000346134.7_Missense_Mutation_p.S573L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	573					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)					CTGCCTGTTTCATCTGAGTAT	0.388000													48	128					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423416	26423416	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26423416G>A	ENST00000335473.7	+	43	7726	c.7476G>A	c.(7474-7476)ttG>ttA	p.L2492L	MYO18B_ENST00000536101.1_Silent_p.L2492L|MYO18B_ENST00000407587.2_Silent_p.L2493L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2492						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						AGACCATTTTGAAGAAGAGCC	0.532000													18	25					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491034	100491034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100491034C>T	ENST00000302913.4	-	2	958	c.820G>A	c.(820-822)Gag>Aag	p.E274K	ACHE_ENST00000411582.1_Missense_Mutation_p.E274K|ACHE_ENST00000241069.5_Missense_Mutation_p.E274K|ACHE_ENST00000412389.1_Missense_Mutation_p.E274K|ACHE_ENST00000428317.1_Missense_Mutation_p.E274K|ACHE_ENST00000419336.2_Missense_Mutation_p.E274K	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	274					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGACGGGCCTCTCCCATGCCC	0.706000													17	30					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20781555	20781555	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20781555C>A	ENST00000289416.5	+	2	674	c.199C>A	c.(199-201)Caa>Aaa	p.Q67K	ACSM3_ENST00000440284.2_Missense_Mutation_p.Q67K|ACSM3_ENST00000450120.2_Missense_Mutation_p.Q22K	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	67					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGTCCTGGACCAATGGACTGA	0.438000													18	22					1.90627e-21	1.94369e-21	1	1	0
SIMC1	375484	broad.mit.edu	37	5	175772322	175772322	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:175772322G>A	ENST00000443967.1	+	12	2900	c.2493G>A	c.(2491-2493)caG>caA	p.Q831Q	SIMC1_ENST00000341199.6_Silent_p.Q416Q|SIMC1_ENST00000430704.2_Silent_p.Q416Q|SIMC1_ENST00000332772.4_Silent_p.Q292Q					SUMO-interacting motifs containing 1																		GCCTGATCCAGATGCTGGGGG	0.522000													33	27					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555844	182555844	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:182555844A>G	ENST00000367559.3	-	2	351	c.98T>C	c.(97-99)gTt>gCt	p.V33A	RNASEL_ENST00000444138.1_Missense_Mutation_p.V33A|RNASEL_ENST00000539397.1_Missense_Mutation_p.V33A	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	33					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCGTTTTGAACAGCTTTAAT	0.522000													67	91					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098072	220098072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:220098072C>T	ENST00000323348.5	+	7	910	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.Q246*|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.Q36*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	246						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCACAGCCCAGGGGCTTCG	0.542000													41	75					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113961378	113961378	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:113961378C>T	ENST00000276198.1	+	3	761	c.33C>T	c.(31-33)ttC>ttT	p.F11F	HTR2C_ENST00000371951.1_Silent_p.F11F|HTR2C_ENST00000371950.3_Silent_p.F11F	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	11					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCATTCATTCCTGTAAGGAT	0.343000													19	4					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474567	140474567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140474567G>A	ENST00000194155.4	+	1	341	c.193G>A	c.(193-195)Ggg>Agg	p.G65R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		65	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)			TGCTGTGAGGGGGGCCAGGGT	0.507000													10	57					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20502478G>A	ENST00000315693.2	-	1	441	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCATAGGAGGATAACAGTAG	0.463000													66	49					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307550	239307550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:239307550C>T	ENST00000373327.4	+	17	2288	c.2066C>T	c.(2065-2067)tCg>tTg	p.S689L	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.S689L|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.S623L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	689	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AATTTGACTTCGAGAAGGTGA	0.358000													26	35					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773514	137773514	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:137773514G>A	ENST00000242375.3	+	2	303	c.261_splice	c.e2+1	p.K87_splice	AKR1D1_ENST00000432161.1_Splice_Site_p.K87_splice|AKR1D1_ENST00000411726.2_Splice_Site_p.K87_splice|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	87					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTGTGGAAAGGTGAGATCTT	0.468000													8	6					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140175450G>A	ENST00000526136.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E301K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E301K|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000													12	50					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095058	16095058	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16095058C>T	ENST00000375766.3	+	5	1114	c.474C>T	c.(472-474)ccC>ccT	p.P158P	FBLIM1_ENST00000375771.1_Silent_p.P158P|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Silent_p.P158P|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	158	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		AGCCCGGTCCCCTCAGGCCCA	0.652000													16	72					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321796	46321796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:46321796G>A	ENST00000465950.1	-	1	1952	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SCAF11_ENST00000369367.3_Missense_Mutation_p.P563L|SCAF11_ENST00000549162.1_Missense_Mutation_p.P371L|SCAF11_ENST00000419565.2_Missense_Mutation_p.P563L			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	563					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACAAGATACAGGTTGGTACAC	0.353000													30	68					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357240	36357240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:36357240G>A	ENST00000312412.4	-	9	1012	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.S183F																kidney(1)|lung(3)	4						TGAAGAACAGGAATTTTTTGG	0.343000													13	65					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977405	210977405	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210977405G>A	ENST00000367007.4	-	8	1654	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	KCNH1_ENST00000271751.4_Silent_p.F522F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	522					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGAGCTTCAGGAAGTCCCGAA	0.458000													31	36					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120183214	120183214	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:120183214A>T	ENST00000328078.1	+	1	1753	c.1676A>T	c.(1675-1677)tAg>tTg	p.*559L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	0					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACCTTCACATAGATGGATCAT	0.438000													98	34					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127555595	127555595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:127555595G>A	ENST00000284690.3	-	2	930	c.440C>T	c.(439-441)cCt>cTt	p.P147L	DHX32_ENST00000284688.6_Missense_Mutation_p.P147L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	147	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTTCTCGAAAGGGATCACGTA	0.507000													49	130					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519838	69519838	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69519838C>T	ENST00000338206.5	-	5	1239	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	410					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGGCTGCTCCCTTGGCTTTCA	0.458000													72	204					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886691	123886691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123886691G>A	ENST00000320891.4	+	1	410	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGATGAGTGGGAGCAGGTGT	0.562000													13	249					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100405193	100405193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100405193C>T	ENST00000358173.3	-	13	2596	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	EPHB4_ENST00000360620.3_Missense_Mutation_p.G710R	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	710	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGAACTGTCCGTCGTTTAGC	0.597000													29	113					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016552	239016552	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:239016552A>G	ENST00000343063.3	+	4	1056	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	ESPNL_ENST00000409169.1_Missense_Mutation_p.I265V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	265										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTACCCCCATCCTGAGAGA	0.652000													11	15					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19648222	19648222	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19648222C>T	ENST00000514277.3	+	7	824	c.789C>T	c.(787-789)ttC>ttT	p.F263F	YJEFN3_ENST00000436027.4_Silent_p.F213F	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	263	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CTGGCCGCTTCTCCGGGCGCC	0.716000													5	5					0	0	1	0	0
SPIN2A	54466	broad.mit.edu	37	X	57162278	57162278	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:57162278G>A	ENST00000374908.1	-	1	1152	c.753C>T	c.(751-753)gtC>gtT	p.V251V	SPIN2A_ENST00000374906.3_Silent_p.V251V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	251					cell cycle|gamete generation			p.V251V(1)		breast(1)|kidney(1)|ovary(1)	3						CCAAATCGTAGACATAGATAT	0.373000													23	12					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094851	139094851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:139094851G>A	ENST00000332797.6	+	1	195	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	14										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGGGGAGCAGGAAAAGGCGGG	0.617000													77	134					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387947	46387947	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46387947G>T	ENST00000302165.3	-	1	1429	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GTGGGCCACAGAGAGCCGCAG	0.751000													10	14					1.61879e-10	1.63426e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088103	9088103	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9088103T>C	ENST00000397910.4	-	1	3915	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1238	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						GTGCTGAGGGTTGGAAGTCCC	0.507000													46	308					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184530	72184530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72184530C>T	ENST00000537465.1	-	5	771	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E60K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E205K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	205										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGCCGAGTTCCCCCTGCAAC	0.532000													53	240					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2729610	2729610	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:2729610G>A	ENST00000382082.3	+	2	1759	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	507						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGCTTATGAGTATACCACCA	0.483000													23	67					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416613	204416613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:204416613C>T	ENST00000367187.3	-	16	2996	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E814K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	814					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGCTGGTCTTCTTCCCGGAGG	0.562000													26	52					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483822	56483822	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:56483822C>T	ENST00000370765.6	-	23	5117	c.5010G>A	c.(5008-5010)caG>caA	p.Q1670Q	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1026					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)			TGATAATGTTCTGTTGGTCAC	0.388000													31	64					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83334282	83334282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83334282G>A	ENST00000261722.3	-	16	2105	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A601V|AP3B2_ENST00000535359.1_Missense_Mutation_p.A633V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	633					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGTGGCCTTGGCATTAAGCAG	0.612000													57	142					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72353073	72353073	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:72353073C>T	ENST00000299687.5	+	2	4797	c.4797C>T	c.(4795-4797)gtC>gtT	p.V1599V	ZNF407_ENST00000577538.1_Silent_p.V1599V|ZNF407_ENST00000309902.6_Silent_p.V1599V|ZNF407_ENST00000582337.1_Silent_p.V1599V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1599					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)		AGTGTCATGTCTGTGGGTGAG	0.463000													56	96					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762616	130762616	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:130762616C>G	ENST00000392429.1	+	2	3427	c.1049C>G	c.(1048-1050)tCc>tGc	p.S350C	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S350C|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S350C	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGAATAATTCCATTGGGGAG	0.522000													31	61					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026979	79026979	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026979G>A	ENST00000446378.2	+	2	2422	c.2391G>A	c.(2389-2391)ttG>ttA	p.L797L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	797						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTCAAAGTTGATCTCCAAAT	0.448000													5	70					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592420	50592420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50592420G>A	ENST00000442544.2	+	7	1761	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.G37E|DCC_ENST00000412726.1_Missense_Mutation_p.G230E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	382	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTAGGGAGGAAGCAACTTA	0.413000													53	117					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683614	136683614	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:136683614C>T	ENST00000354570.3	-	11	1910	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E	MAP7_ENST00000432797.2_Silent_p.E354E|MAP7_ENST00000454590.1_Silent_p.E522E|MAP7_ENST00000438100.2_Silent_p.E485E|MAP7_ENST00000544465.1_Silent_p.E485E	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	500					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTCCCTCCTCTCCCTTTCTT	0.532000													51	125					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120481508	120481508	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:120481508G>T	ENST00000354960.3	-	7	1461	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y	PDE5A_ENST00000394439.1_Missense_Mutation_p.S329Y|PDE5A_ENST00000264805.5_Missense_Mutation_p.S339Y	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	381	GAF 2.			S -> F (in Ref. 9; AAP31235).	platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323000													22	39					6.32553e-13	6.39229e-13	1	1	0
TTI1	9675	broad.mit.edu	37	20	36640111	36640111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36640111G>A	ENST00000373448.2	-	3	2346	c.2108C>T	c.(2107-2109)tCt>tTt	p.S703F	TTI1_ENST00000449821.1_Missense_Mutation_p.S703F|TTI1_ENST00000373447.3_Missense_Mutation_p.S703F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	703							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGATTTAAAGAGATCCCATT	0.498000													26	58					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252741	155252741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155252741C>T	ENST00000357232.3	-	10	2358	c.2359G>A	c.(2359-2361)Gga>Aga	p.G787R	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	787	Cadherin 6.				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)		tcaccttctcctaattcacag	0.483000													8	22					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757209	71757209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:71757209G>A	ENST00000318442.5	-	2	605	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTCTTTGGGGAGCCTTTCCC	0.577000													18	17					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214710	37214710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:37214710G>A	ENST00000537425.1	+	2	219	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	55					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				CTTGGATTGGGAGCCCTGGAG	0.582000													6	16					0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183599703	183599703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183599703G>A	ENST00000359856.6	-	3	352	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	ARPC5_ENST00000367534.1_Nonsense_Mutation_p.Q96*|ARPC5_ENST00000294742.6_Nonsense_Mutation_p.Q99*|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	96					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TCCAGAGATTGAACTGCCTTT	0.408000													41	67					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49247283	49247283	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49247283C>T	ENST00000327979.2	-	2	513	c.102G>A	c.(100-102)cgG>cgA	p.R34R	FAM65C_ENST00000535356.1_Silent_p.R38R|FAM65C_ENST00000045083.2_Silent_p.R34R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	34										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						ACGCGATCCTCCGGCTCTGTG	0.667000													12	14					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823814	97823814	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:97823814C>A	ENST00000297293.5	+	11	4330	c.4037C>A	c.(4036-4038)cCc>cAc	p.P1346H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1346					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACCCACTGCCCGAGGACTGG	0.542000													41	98					2.43468e-25	2.48828e-25	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104898085	104898085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:104898085G>A	ENST00000507740.1	+	2	918	c.682G>A	c.(682-684)Gga>Aga	p.G228R	RIMS2_ENST00000436393.2_Missense_Mutation_p.G198R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G420R|RIMS2_ENST00000262231.10_Missense_Mutation_p.G228R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	451					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGGCTCAGGGACCAAGTTC	0.478000										HNSCC(12;0.0054)			25	31					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834561	156834561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156834561C>T	ENST00000368196.3	+	3	449	c.329C>T	c.(328-330)gCc>gTc	p.A110V	NTRK1_ENST00000392302.2_Missense_Mutation_p.A80V|NTRK1_ENST00000524377.1_Missense_Mutation_p.A110V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A110V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	110					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCGCCAGATGCCTTCCATTTC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			30	32					0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447713	3447713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:3447713C>T	ENST00000559055.2	+	1	558	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.P143L			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GCGTCTGTGCCGGCCAAGTCA	0.582000													11	16					0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232660851	232660851	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:232660851G>A	ENST00000373608.3	+	5	470	c.363G>A	c.(361-363)gaG>gaA	p.E121E	COPS7B_ENST00000410024.1_Silent_p.E121E|COPS7B_ENST00000409295.1_Silent_p.E87E|COPS7B_ENST00000409091.1_Silent_p.E14E|COPS7B_ENST00000350033.3_Silent_p.E121E|COPS7B_ENST00000410017.1_Silent_p.E121E			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	121	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AAGACCTGGAGATGCGGAATC	0.483000													23	48					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15540483	15540483	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:15540483G>A	ENST00000357607.2	+	7	713	c.525G>A	c.(523-525)cgG>cgA	p.R175R	BMX_ENST00000342014.6_Silent_p.R175R|BMX_ENST00000348343.6_Silent_p.R175R			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	175					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGATACCTCGGGCAGTTCCTG	0.433000													104	54					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242664416	242664416	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:242664416G>A	ENST00000313552.6	+	8	719	c.693G>A	c.(691-693)cgG>cgA	p.R231R	AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	231					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCTGTCCACGGTGTGTCCAGG	0.592000													19	51					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056998	120056998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:120056998G>A	ENST00000235547.6	+	4	997	c.858G>A	c.(856-858)tgG>tgA	p.W286*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.W284*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.W284*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	284			F -> L (in dbSNP:rs6205).		androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATTCCAGATGGAGCTTTCCTT	0.478000													28	99					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336414	70336414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:70336414G>A	ENST00000338508.4	-	30	2520	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	SHANK2_ENST00000449833.2_Missense_Mutation_p.P245S|SHANK2_ENST00000449116.2_Missense_Mutation_p.P242S|SHANK2_ENST00000423696.2_Missense_Mutation_p.P461S|SHANK2_ENST00000409530.1_Missense_Mutation_p.P251S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P244S|SHANK2_ENST00000357171.3_Missense_Mutation_p.P252S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	461					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTACCTCGAGGGATGCCCAGA	0.567000													22	53					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107037521	107037521	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:107037521G>A	ENST00000273980.4	-	25	2697	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	TBCK_ENST00000394708.2_Silent_p.I750I|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Silent_p.I750I|TBCK_ENST00000394706.3_Silent_p.I711I|TBCK_ENST00000361687.4_Silent_p.I687I			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	750						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CATTTAATGGGATGGATTCTC	0.353000													20	26					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669599	88669599	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:88669599G>A	ENST00000394480.1	-	13	1620	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NTRK3_ENST00000557856.1_Silent_p.S425S|NTRK3_ENST00000558676.1_Silent_p.S425S|NTRK3_ENST00000542733.2_Silent_p.S335S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000317501.3_Silent_p.S433S|NTRK3_ENST00000360948.2_Silent_p.S433S|NTRK3_ENST00000355254.2_Silent_p.S433S|NTRK3_ENST00000540489.2_Silent_p.S433S|NTRK3_ENST00000357724.2_Silent_p.S425S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	433					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAACTGCTATGGATACCTGTG	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	31					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131337034	131337034	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131337034C>T	ENST00000358161.5	+	4	557	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SPTAN1_ENST00000372731.4_Silent_p.A148A|SPTAN1_ENST00000372739.3_Silent_p.A148A			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	148					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGCAGGCCCAGAAGTTGG	0.463000													45	21					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429495	20429495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20429495G>A	ENST00000331849.4	+	3	466	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ACSM5_ENST00000575584.1_Missense_Mutation_p.G107R	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	107					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAATGTGCTGGGGGGTGCATG	0.612000													21	51					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142649704C>T	ENST00000355265.2	-	10	1569	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000													40	32					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75964559	75964559	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:75964559C>T	ENST00000274364.6	+	23	3030	c.2733C>T	c.(2731-2733)tcC>tcT	p.S911S	IQGAP2_ENST00000502745.1_Silent_p.S407S|IQGAP2_ENST00000379730.3_Silent_p.S413S|IQGAP2_ENST00000396234.3_Silent_p.S407S	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	911					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAACAAGTCCACTAAATTTA	0.348000													9	31					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702816	18702816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:18702816G>A	ENST00000251296.1	+	7	1411	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	343						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCCCCAAAGGACCCAAAATT	0.532000													73	240					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	463297	463297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:463297G>A	ENST00000399788.2	-	8	1336	c.974C>T	c.(973-975)cCt>cTt	p.P325L	KDM5A_ENST00000382815.4_Missense_Mutation_p.P325L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	325					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGGTAGTGGAGGAATTAGACA	0.393000			T	NUP98	AML								44	89					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778828	36778828	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:36778828G>A	ENST00000416516.2	-	2	1813	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	441	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTATGATGGCGTCAAAAAGGT	0.507000													31	59					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270171	48270171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:48270171G>A	ENST00000225964.5	-	27	1980	c.1862C>T	c.(1861-1863)cCc>cTc	p.P621L		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	621	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)	AGGGCCAGGGGGTCCCTGAGC	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						17	56					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587379	158587379	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158587379C>T	ENST00000368148.3	-	47	6729		c.e47-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGCAATGATCTAGTTAAGAA	0.358000													21	42					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473133	175473133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:175473133C>T	ENST00000454872.1	+	13	2244	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	706					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATCCGCATCCGGATGCTGAA	0.478000													19	10					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236817381	236817381	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:236817381G>A	ENST00000409538.1	+	11	2446		c.e11-1		AGAP1_ENST00000428334.2_Splice_Site|AGAP1_ENST00000304032.7_Splice_Site|AGAP1_ENST00000336665.5_Splice_Site			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTTCAACAGGATTACATGC	0.428000													8	41					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66424473	66424473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66424473G>A	ENST00000341529.3	+	6	1097	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	CDH5_ENST00000563425.2_Missense_Mutation_p.G317S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCACAACGAGGGCATCATCAA	0.572000													41	48					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352743	117352743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117352743C>T	ENST00000321322.6	-	12	2675	c.2674G>A	c.(2674-2676)Gac>Aac	p.D892N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D622N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	832	Fibronectin type-III 1.				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)		ATGACGCGGTCAGGGTCGATG	0.632000													15	66					0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1867245	1867245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:1867245C>T	ENST00000397356.3	-	6	975	c.569G>A	c.(568-570)gGg>gAg	p.G190E	HAGH_ENST00000397353.2_Missense_Mutation_p.G142E|HAGH_ENST00000566709.1_Missense_Mutation_p.G142E|HAGH_ENST00000455446.2_Missense_Mutation_p.G154R	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	190					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATAGAACTTCCCGCAGCCAGC	0.637000													27	21					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20796748	20796748	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:20796748C>T	ENST00000327925.5	-	2	491	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	124										large_intestine(3)|lung(3)|skin(1)	7						TCTGTTTTTCCTTATATTCAG	0.279000													17	18					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163857	47163857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47163857G>A	ENST00000409792.3	-	3	2311	c.2269C>T	c.(2269-2271)Caa>Taa	p.Q757*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATCTTGGTGTGGTGAC	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								78	168					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11964770	11964770	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11964770C>T	ENST00000256720.2	+	20	2619	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L	LPIN1_ENST00000396099.1_Silent_p.L884L|LPIN1_ENST00000449576.2_Silent_p.L927L|LPIN1_ENST00000396097.1_Silent_p.L572L|LPIN1_ENST00000404113.2_Silent_p.L343L|LPIN1_ENST00000425416.2_Silent_p.L848L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	842					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATGTGAGACTCTGTGAAGTAG	0.488000													20	54					0	0	1	0	0
CLIC3	9022	broad.mit.edu	37	9	139889928	139889928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139889928C>T	ENST00000494426.1	-	3	494	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	79	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAAAGTCCTCGATCTGCAGC	0.682000													81	55					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838853	15838853	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:15838853C>A	ENST00000305899.3	+	0	20					NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGGTGGCCGTCATGCTGGGGC	0.567000													86	73					4.78148e-37	4.90967e-37	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6060045	6060045	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:6060045G>A	ENST00000379959.3	-	7	938	c.765C>T	c.(763-765)ctC>ctT	p.L255L	IL2RA_ENST00000256876.6_Silent_p.L246L|IL2RA_ENST00000379954.1_Silent_p.L183L	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	255					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCACTCAGGAGGAGGACGC	0.617000													5	36					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445193	150445193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150445193C>T	ENST00000401000.4	+	10	3756	c.3691C>T	c.(3691-3693)Cct>Tct	p.P1231S	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1257S|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1257	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCCCACCCCCTCCTCCTGG	0.592000													64	147					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:45459056C>T	ENST00000548424.1	+	0	448																											AATTGGAGTTCGTTTCCTTCC	0.443000													16	34					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671155	127671155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:127671155G>A	ENST00000508053.1	-	35	4813	c.3839C>T	c.(3838-3840)tCg>tTg	p.S1280L	FBN2_ENST00000508989.1_Missense_Mutation_p.S1247L|FBN2_ENST00000507835.1_Missense_Mutation_p.S130L|FBN2_ENST00000262464.4_Missense_Mutation_p.S1280L			P35556	FBN2_HUMAN	fibrillin 2	1280	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.S1280L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGCACACGATCTCCCATC	0.433000													26	141					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353335	105353335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105353335C>T	ENST00000453495.1	+	12	2990	c.2762C>T	c.(2761-2763)gCc>gTc	p.A921V	CEP170B_ENST00000556508.1_Missense_Mutation_p.A850V|CEP170B_ENST00000414716.3_Missense_Mutation_p.A920V|CEP170B_ENST00000418279.1_Missense_Mutation_p.A850V					centrosomal protein 170B																		ACGGAGACGGCCCTGGCGGCC	0.682000													29	20					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290899	62290899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:62290899G>A	ENST00000258991.3	-	2	763	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	TEX2_ENST00000584379.1_Missense_Mutation_p.R227W|TEX2_ENST00000583097.1_Missense_Mutation_p.R227W			Q8IWB9	TEX2_HUMAN	testis expressed 2	227					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)		GACTCCTGCCGGGAAGTGTCC	0.532000													51	121					0	0	1	0	0
AP1S3	130340	broad.mit.edu	37	2	224629914	224629914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:224629914G>A	ENST00000446015.2	-	4	478	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	AP1S3_ENST00000396654.2_Intron|AP1S3_ENST00000443700.1_Intron|AP1S3_ENST00000396653.2_3'UTR			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	149					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCCATGGTTTGGGAAACCGTA	0.383000													25	42					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785865	11785865	+	Missense_Mutation	SNP	C	C	T	rs147703115		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:11785865C>T	ENST00000356957.3	-	9	1369	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	TXNDC11_ENST00000283033.5_Missense_Mutation_p.R394Q			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	421					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCCACCCGCCGCAGGTGCTG	0.612000													31	38					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725214	4725214	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:4725214G>A	ENST00000302640.8	+	26	3611	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	ITPR1_ENST00000456211.2_Silent_p.E1078E|ITPR1_ENST00000357086.4_Silent_p.E1093E|ITPR1_ENST00000423119.2_Silent_p.E1093E|ITPR1_ENST00000443694.2_Silent_p.E1087E|ITPR1_ENST00000354582.6_Silent_p.E1102E|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1102					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAGGCAGGAGGTGCTCCAGG	0.567000													20	51					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007557	56007557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:56007557C>T	ENST00000429591.2	+	4	1189	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGAGAAACCCTATAAATGT	0.408000													20	32					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28812360	28812360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28812360G>A	ENST00000422425.2	+	26	1870	c.1826G>A	c.(1825-1827)aGg>aAg	p.R609K	PLB1_ENST00000329020.6_Missense_Mutation_p.R308K|PLB1_ENST00000327757.5_Missense_Mutation_p.R620K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	620	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATGACACAAGGGAAGATTTT	0.488000													27	81					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622519	38622519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38622519G>A	ENST00000413689.1	-	17	3324	c.3131C>T	c.(3130-3132)cCc>cTc	p.P1044L	SCN5A_ENST00000425664.1_Missense_Mutation_p.P1044L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000333535.4_Missense_Mutation_p.P1044L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1044L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1044L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1044					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)	CACACACACGGGCTCTGGATC	0.637000													16	29					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167675102	167675102	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:167675102C>T	ENST00000519204.1	+	26	6913	c.6795C>T	c.(6793-6795)atC>atT	p.I2265I	TENM2_ENST00000520394.1_Silent_p.I2147I|TENM2_ENST00000545108.1_Silent_p.I2385I|TENM2_ENST00000403607.2_Silent_p.I2210I|TENM2_ENST00000518659.1_Silent_p.I2386I					teneurin transmembrane protein 2																		GCCTCATGATCAAACAGCTGC	0.527000													21	151					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742491	17742491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:17742491G>A	ENST00000380060.3	+	5	1456	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	NHS_ENST00000398097.3_Missense_Mutation_p.R217Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	373						nucleus		p.R373Q(2)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCGGAGACGAAAATTGAGG	0.448000													64	15					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032498	21032498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21032498C>T	ENST00000381545.3	+	11	1483	c.1264C>T	c.(1264-1266)Caa>Taa	p.Q422*	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.Q422*|LST3_ENST00000540229.1_Nonsense_Mutation_p.Q422*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.Q422*|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	422					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTCTTGTTTCAACTTCTATA	0.313000													19	34					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81293407	81293407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81293407C>T	ENST00000258168.2	+	3	781	c.320C>T	c.(319-321)tCc>tTc	p.S107F	BCMO1_ENST00000564552.1_Missense_Mutation_p.S107F|BCMO1_ENST00000425577.2_Intron	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	107					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AACATATTTTCCAAGTAACTG	0.408000													19	90					0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119367315	119367315	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:119367315G>A	ENST00000493094.1	-	3	1260	c.801C>T	c.(799-801)ctC>ctT	p.L267L	POPDC2_ENST00000264231.3_Silent_p.L267L|POPDC2_ENST00000468801.1_Silent_p.L267L|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Silent_p.L267L			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	267						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGACATGGTAGAGGCTGGGAA	0.562000													40	83					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45837850	45837850	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45837850T>C	ENST00000397928.1	+	21	3632	c.3187T>C	c.(3187-3189)Tgg>Cgg	p.W1063R	TRPM2_ENST00000300482.5_Missense_Mutation_p.W1063R|TRPM2_ENST00000300481.9_Missense_Mutation_p.W1043R|TRPM2_ENST00000397932.2_Missense_Mutation_p.W1063R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1063						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						GGACCAGATTTGGAAGTTCCA	0.612000													27	51					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748198	36748198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36748198C>T	ENST00000354618.5	+	3	258	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R12C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	12	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTGGATCTCGCTCTTCTCG	0.433000			T	USP6	aneurysmal bone cysts								22	33					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226449	23226449	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23226449C>T	ENST00000300061.2	+	13	1752	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	537					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGCTGGGCCTGTGGATGAG	0.547000													13	31					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62664278	62664278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:62664278G>A	ENST00000535781.1	+	20	2749	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	920					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)					CAAGGACATCGCCAACTGGCA	0.637000													4	68					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153486409	153486409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:153486409G>A	ENST00000288670.9	+	20	2907	c.2540G>A	c.(2539-2541)aGt>aAt	p.S847N	FMNL2_ENST00000475377.2_Missense_Mutation_p.S222N	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	847	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAACTTCAGAGTTTAGATCTG	0.403000													3	9					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338150	42338150	+	Missense_Mutation	SNP	C	C	T	rs13306787		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42338150C>T	ENST00000262418.6	-	5	357	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	68			E -> K (in dbSNP:rs13306787).	E -> EE (in Ref. 7; AA sequence).	bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGTTCTTTTCGTCCATCACC	0.617000													33	63					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76369081	76369081	+	Silent	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:76369081T>A	ENST00000370014.3	+	8	1273	c.654T>A	c.(652-654)ccT>ccA	p.P218P	SENP6_ENST00000370010.2_Silent_p.P211P|SENP6_ENST00000327284.8_Silent_p.P211P|SENP6_ENST00000447266.2_Silent_p.P218P|SENP6_ENST00000436928.3_3'UTR	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	218					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGCCTACTCCTCCTCTATCTC	0.348000													14	35					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881595	69881595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:69881595G>A	ENST00000358913.5	+	2	888	c.400G>A	c.(400-402)Gag>Aag	p.E134K	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.E134K|MYPN_ENST00000373675.3_Missense_Mutation_p.E134K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	134	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGCCCCCAGGAGGCAAAAAG	0.428000													13	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685951	100685951	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100685951A>G	ENST00000306151.4	+	3	11318	c.11254A>G	c.(11254-11256)Agc>Ggc	p.S3752G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3752	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATGGAAATAAGCACCCTTGG	0.478000													83	274					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296452	79296452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:79296452G>A	ENST00000419573.3	-	16	2463	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S714F|RASGRF1_ENST00000394745.3_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	730	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCGCGCGGGGACTTGGGGGG	0.627000													41	74					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130188260	130188260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:130188260G>A	ENST00000265379.6	+	38	7906	c.7412G>A	c.(7411-7413)cGa>cAa	p.R2471Q	COL6A5_ENST00000432398.2_Missense_Mutation_p.R2471Q			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2471	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAACTTGGCCGAACCCACAAG	0.393000													19	27					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187891	12187891	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12187891T>C	ENST00000439326.3	+	4	2131	c.1956T>C	c.(1954-1956)gtT>gtC	p.V652V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGCATTCAGTTTGCCTGGTTC	0.413000													2	13					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649413	7649413	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7649413A>G	ENST00000359156.4	-	5	1297	c.1095T>C	c.(1093-1095)tgT>tgC	p.C365C	CD163_ENST00000541972.1_Silent_p.C353C|CD163_ENST00000432237.2_Silent_p.C365C|CD163_ENST00000396620.3_Silent_p.C365C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	365	SRCR 3.				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						ACTTACCAGAACATGTCACGC	0.418000													25	53					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956168	48956168	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48956168C>A	ENST00000253237.5	+	7	1460	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	409						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGCTGCTGTTCGTGCACCAGG	0.687000													35	46					2.2871e-25	2.33823e-25	1	1	0
UBR2	23304	broad.mit.edu	37	6	42615888	42615888	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:42615888C>T	ENST00000372901.1	+	22	2700	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	UBR2_ENST00000372883.3_Silent_p.I318I|UBR2_ENST00000372899.1_Silent_p.I814I			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	814					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.I814I(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGAGTGTAATCGAAGCAGTTG	0.353000													40	79					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103871	53103871	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:53103871C>T	ENST00000408890.4	+	1	523	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	169										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cccAGGAGCTCCTGGACCCCT	0.711000													12	14					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632412	237632412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:237632412C>T	ENST00000366574.2	+	17	1950	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	RYR2_ENST00000542537.1_Missense_Mutation_p.R529C|RYR2_ENST00000360064.6_Missense_Mutation_p.R543C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	545					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGAGGAAATCGTAAAAACTG	0.378000													16	29					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558619	118558619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:118558619G>A	ENST00000336338.5	-	29	4321	c.4256C>T	c.(4255-4257)tCc>tTc	p.S1419F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1419						cilium|flagellar axoneme|microtubule		p.S1419Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCCTGAAAGGATAACAATGG	0.413000													30	30					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980599	110980599	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110980599G>A	ENST00000524391.1	-	4	2253	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	KCNV1_ENST00000297404.1_Silent_p.I407I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	407						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I407I(1)		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)			TGAAGGCCACGATTTTGCCTG	0.473000													40	96					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006910	8006910	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:8006910G>T	ENST00000344293.5	+	3	1643	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	479					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGCAAAACTGGGAACACCTT	0.488000													42	72					1.38658e-30	1.42184e-30	1	1	0
TAGAP	117289	broad.mit.edu	37	6	159458115	159458115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:159458115C>T	ENST00000367066.3	-	10	1271	c.940G>A	c.(940-942)Gac>Aac	p.D314N	TAGAP_ENST00000326965.6_Missense_Mutation_p.D136N|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACATCAGGGTCGTTGCTGTCG	0.532000													45	119					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933099	83933099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83933099C>T	ENST00000345382.2	-	4	989	c.904G>A	c.(904-906)Gat>Aat	p.D302N	BNC1_ENST00000569704.1_Missense_Mutation_p.D295N|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	302					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAACACTGATCTTTTTCAACC	0.443000													20	46					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282919	5282919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5282919C>T	ENST00000546004.1	-	3	1168	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	PROKR2_ENST00000217270.3_Missense_Mutation_p.E308K			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	308						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TAGTGCTTTTCCTTCACGAAC	0.532000										HNSCC(71;0.22)			59	98					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528639	57528639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57528639C>T	ENST00000420713.1	+	4	584	c.472C>T	c.(472-474)Cag>Tag	p.Q158*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACATTTCAGACTCATAA	0.333000													6	6					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445715	27445715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27445715G>A	ENST00000337929.3	+	3	570	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	IL21R_ENST00000395754.4_Missense_Mutation_p.V33I|IL21R_ENST00000395755.1_Missense_Mutation_p.V33I|IL21R_ENST00000564089.1_Missense_Mutation_p.V33I	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	33					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTCCAGACGGTCATCTGCAT	0.632000			T	BCL6	NHL								10	57					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43163840	43163840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43163840G>A	ENST00000252050.4	+	10	2506	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	CUL9_ENST00000354495.3_Missense_Mutation_p.E698K|CUL9_ENST00000372647.2_Missense_Mutation_p.E808K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	808					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCTCCTCGGAGATCCCCAC	0.557000													57	135					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918129	39918129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39918129G>A	ENST00000337304.2	+	2	1460	c.578G>A	c.(577-579)aGg>aAg	p.R193K	ATF4_ENST00000404241.2_Missense_Mutation_p.R193K|ATF4_ENST00000396680.1_Missense_Mutation_p.R193K	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	193					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GAAGGAGATAGGAAGCCAGAC	0.493000													25	45					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228145159	228145159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228145159G>A	ENST00000396578.3	+	30	2389	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	743	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCTGTAGGGAGAACCAGCAGT	0.468000													24	54					0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213227	28213227	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28213227A>G	ENST00000377294.2	-	5	1548	c.1305T>C	c.(1303-1305)aaT>aaC	p.N435N	ZKSCAN4_ENST00000423974.2_Silent_p.N280N	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCCACACATATTGCACTGGT	0.488000													37	76					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832220	113832220	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113832220C>T	ENST00000337569.3	+	3	114	c.39C>T	c.(37-39)ttC>ttT	p.F13F	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	13						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCAGTTCCTTCCTGCCTGAGC	0.572000													58	121					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41523980	41523980	+	Missense_Mutation	SNP	G	G	A	rs138109960	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:41523980G>A	ENST00000239882.3	-	5	805	c.491C>T	c.(490-492)cCg>cTg	p.P164L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P140L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	164					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGAGGCTCCCGGTGAGTCTGC	0.468000													63	50					0	0	1	0	0
SMPD4P1	645280	broad.mit.edu	37	22	20970723	20970723	+	RNA	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:20970723T>G	ENST00000443839.1	-	0	1901																											AGGGCATGGCTGGTGTCCTGA	0.582000													10	17					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368900	100368900	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100368900G>A	ENST00000281806.2	-	6	1253	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MCHR2_ENST00000369212.1_Silent_p.F313F|MCHR2_ENST00000445970.1_Silent_p.F313F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	313						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACGTTTCTGGAAATTTCCAC	0.438000													34	87					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25275471	25275471	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:25275471C>T	ENST00000400358.4	+	14	1530	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	SGSM1_ENST00000400359.4_Silent_p.I546I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	546						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						AGTACCAGATCCTCTCCAGAG	0.488000													6	20					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102836061	102836061	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:102836061G>A	ENST00000312132.4	-	0	3538																											CAGCCAAAGAGCTGAAACAAA	0.358000													19	12					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47778153	47778153	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47778153C>T	ENST00000398545.4	-	4	592	c.473_splice	c.e4-1	p.E159_splice		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	159										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCACAGCGTTCCCTGAAAGGA	0.433000													52	113					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719407	108719407	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108719407G>A	ENST00000232603.5	-	21	2266	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	MORC1_ENST00000483760.1_Silent_p.I707I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	728					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCTCACCAGGATTATATCTG	0.373000													34	80					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011787	46011787	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46011787G>T	ENST00000400368.1	-	1	599	c.579C>A	c.(577-579)ccC>ccA	p.P193P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	193	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGCTGGGCTCACAGA	0.647000													19	199					2.98393e-07	3.00452e-07	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47767640	47767640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47767640G>A	ENST00000263773.5	-	7	1225	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	405										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCCAGTTCAAGGGTATCTTGT	0.393000													31	82					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815270	137815270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137815270G>A	ENST00000367734.2	-	1	261	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCGGAGATGAAGCTCTGCT	0.547000													45	71					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	653569	653569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:653569G>A	ENST00000266383.5	+	4	429	c.416G>A	c.(415-417)aGg>aAg	p.R139K	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	139						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCAGCTCAGGAGGAACCTG	0.612000													76	140					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65994202	65994202	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65994202G>A	ENST00000443035.3	-	18	2672	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	DENND4A_ENST00000431932.2_Silent_p.L819L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTGTCCACAGAGTTGCATAA	0.363000													48	116					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64593101	64593101	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64593101C>T	ENST00000357395.3	+	73	13910	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	SYNE2_ENST00000344113.4_Silent_p.F4537F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.F4488F|SYNE2_ENST00000555002.1_Silent_p.F1171F|SYNE2_ENST00000358025.3_Silent_p.F4537F|SYNE2_ENST00000394768.2_Silent_p.F922F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4537					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGAACTATTCCTGACCCTCA	0.418000													19	18					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:71218869C>T	ENST00000393567.2	-	3	310	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_ENST00000538248.1_Missense_Mutation_p.E81K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E54K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E71K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E71K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E54K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E54K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E54K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	54								p.E54K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGACATTTCCTTCAGGAAC	0.408000													11	49					0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246726	43246726	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:43246726C>A	ENST00000307275.3	+	4	847	c.411C>A	c.(409-411)ccC>ccA	p.P137P	HEXIM2_ENST00000592695.1_Silent_p.P137P|HEXIM2_ENST00000591576.1_Silent_p.P137P|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	137					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						AAGGCCAGCCCGTGGCCCCCT	0.627000													34	102					1.08052e-11	1.09156e-11	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228118856	228118856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228118856G>A	ENST00000396578.3	+	14	956	c.794G>A	c.(793-795)gGa>gAa	p.G265E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	265	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACAAGGGAGCAATGGGC	0.423000													29	66					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56324981	56324981	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:56324981C>T	ENST00000370754.5	-	101	22937	c.22938G>A	c.(22936-22938)gaG>gaA	p.E7646E	DST_ENST00000421834.2_Silent_p.E5353E|DST_ENST00000370788.2_Silent_p.E5271E|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.E5067E|DST_ENST00000361203.3_Silent_p.E7357E|DST_ENST00000446842.2_Silent_p.E7142E|DST_ENST00000370769.4_Silent_p.E7468E			Q03001	DYST_HUMAN	dystonin	7466					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)			AGCCACTGTCCTCCCCAGAGT	0.468000													18	26					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36941030	36941030	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36941030C>T	ENST00000373103.1	-	4	856	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CSF3R_ENST00000373106.1_Silent_p.L103L|CSF3R_ENST00000418048.2_Silent_p.L103L|CSF3R_ENST00000361632.4_Silent_p.L103L|CSF3R_ENST00000440588.2_Silent_p.L103L|CSF3R_ENST00000373104.1_Silent_p.L103L|CSF3R_ENST00000338937.5_Silent_p.L103L|CSF3R_ENST00000331941.5_Silent_p.L103L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	103	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCCCAGTTCAGGCAGCAGG	0.612000													55	61					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12708132	12708132	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:12708132T>C	ENST00000388918.5	+	7	1526	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	TYRP1_ENST00000381136.2_Missense_Mutation_p.I176T|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.I175T	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	466					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACTTATGAAATTCAATGGCCA	0.388000									Oculocutaneous Albinism				34	31					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913224	170913224	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:170913224G>T	ENST00000361618.3	-	3	842	c.535C>A	c.(535-537)Cta>Ata	p.L179I	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.L76I	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	179						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTCTTCTTTAGATGGCTGCTC	0.517000													32	84					1.836e-18	1.86399e-18	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111671489	111671489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:111671489G>A	ENST00000431670.2	+	11	3113	c.2702G>A	c.(2701-2703)cGa>cAa	p.R901Q	PHLDB2_ENST00000412622.1_Missense_Mutation_p.R858Q|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R901Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R885Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R858Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	901						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACTTTGCCTCGAAAGAAAACC	0.448000													27	37					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51467517	51467517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:51467517C>T	ENST00000298355.3	-	6	2469	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	TRIM9_ENST00000338969.5_Missense_Mutation_p.E446K|TRIM9_ENST00000360392.4_Missense_Mutation_p.E450K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	450	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTACAACATTCCTCCAGCTGT	0.498000													30	30					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326492	57326492	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57326492G>A	ENST00000326441.9	-	10	3681	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.I980I|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.I1106I|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.I982I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1106					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1106I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACATTCATAGATTTTGTCAT	0.522000													21	49					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659616	77659616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:77659616G>A	ENST00000316249.3	+	2	1201	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	401					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCTTCCCGGTCACCTCCAT	0.692000													47	73					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884127	94884127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:94884127G>A	ENST00000357742.4	+	6	943	c.943G>A	c.(943-945)Gta>Ata	p.V315I	MCTP2_ENST00000543482.1_Missense_Mutation_p.V315I|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.V315I	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	315					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)			GAACCTAGTGGTAAAACAGGG	0.373000													19	45					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846655	3846655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3846655C>T	ENST00000428216.2	+	7	1612	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	MAVS_ENST00000416600.2_Missense_Mutation_p.P354L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	495					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCCAGGCCACAAGCCGAC	0.677000													27	29					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564750	22564750	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:22564750C>T	ENST00000390452.2	+	0	219																											AGATGATTTTCCTTATTCGCC	0.428000													4	59					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255646	240255646	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:240255646G>A	ENST00000319653.9	+	1	467	c.237G>A	c.(235-237)cgG>cgA	p.R79R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	79					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R222R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAACCTGCGGATCAGGAAGA	0.662000													15	14					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634273	70634273	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:70634273C>T	ENST00000381269.2	-	2	1620	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SLC8A3_ENST00000357887.3_Silent_p.G289G|SLC8A3_ENST00000356921.2_Silent_p.G289G|SLC8A3_ENST00000528359.1_Silent_p.G289G|SLC8A3_ENST00000534137.1_Silent_p.G289G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	289					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)		TCATCATTTTCCCATCCATCT	0.473000													3	34					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50475286G>A	ENST00000602139.1	+	0	1232									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000													43	39					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552640	57552640	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57552640T>G	ENST00000258214.2	-	5	1181	c.935A>C	c.(934-936)aAg>aCg	p.K312T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	312										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCGCCTCCTTCAGGATGCT	0.637000													6	6					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605128	171605128	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171605128C>T	ENST00000037502.5	-	3	1511	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	484	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAAGAGCTTCTTCTCCAGGG	0.478000													27	53					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578167	4578167	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:4578167G>A	ENST00000301396.4	-	12	2016	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	PELP1_ENST00000269230.7_Silent_p.A451A|PELP1_ENST00000574876.1_Silent_p.A453A|PELP1_ENST00000436683.2_Silent_p.A306A|PELP1_ENST00000572293.1_Silent_p.A503A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	453					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCTCTCCAGAGGCTCCTCCCT	0.602000													54	38					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384070	108384070	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:108384070T>C	ENST00000265843.4	-	6	2274	c.2164A>G	c.(2164-2166)Aag>Gag	p.K722E	EXPH5_ENST00000525344.1_Missense_Mutation_p.K715E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K534E|EXPH5_ENST00000428840.1_Missense_Mutation_p.K646E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	722					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCACCTGCCTTGTTTGTCTGG	0.418000													13	39					0	0	1	0	0
MIR182	406958	broad.mit.edu	37	7	129410252	129410252	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:129410252G>A	ENST00000385255.1	-	0	80					NR_029614.1																						CCCATAGTTGGCAAGTCTAGA	0.632000													19	63					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27457401	27457401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27457401G>A	ENST00000337929.3	+	8	1332	c.859G>A	c.(859-861)Gac>Aac	p.D287N	IL21R_ENST00000395754.4_Missense_Mutation_p.D287N|IL21R_ENST00000395755.1_Missense_Mutation_p.D287N|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.D287N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	287					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCAGCGGAGACTTCAAGGT	0.652000			T	BCL6	NHL								15	30					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957301	49957301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49957301C>T	ENST00000376056.2	-	5	2186	c.2036G>A	c.(2035-2037)gGg>gAg	p.G679E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.G305E|AKAP4_ENST00000376064.3_Missense_Mutation_p.G679E|AKAP4_ENST00000358526.2_Missense_Mutation_p.G688E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	688					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGCTTCATCCCACTGGTACA	0.473000													27	15					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981922	7981922	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7981922G>A	ENST00000328600.2	-	2	1398	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	413	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGAGCACAGACTCCTCAGG	0.542000													10	39					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905427	176905427	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176905427T>A	ENST00000367654.2	-	15	2494	c.2481A>T	c.(2479-2481)aaA>aaT	p.K827N	ASTN1_ENST00000367657.3_Missense_Mutation_p.K819N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K819N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K819N			O14525	ASTN1_HUMAN	astrotactin 1	827					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGGTTGAGTTTGATGTGGT	0.527000													37	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594433	179594433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179594433C>T	ENST00000589042.1	-	63	18771	c.18547G>A	c.(18547-18549)Gac>Aac	p.D6183N	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4939N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5866N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5866	Ig-like 43.						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)			GTGCCTGCGTCATTTCGAGCT	0.458000													58	125					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101726006	101726006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:101726006C>T	ENST00000251127.6	-	37	4208	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1376						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAGCTTTTCCAGCCGAAGA	0.358000													30	19					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175782	79175782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:79175782G>A	ENST00000554719.1	+	4	816	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	NRXN3_ENST00000335750.5_Missense_Mutation_p.G109S|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGAGCCCAATGGCCTGATCCT	0.512000													32	36					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295495	29295495	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:29295495T>G	ENST00000331664.5	-	1	1632	c.1633A>C	c.(1633-1635)Aag>Cag	p.K545Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	545					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTGACTCCTTCATCTTCAGA	0.577000													36	45					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473749	56473749	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:56473749G>A	ENST00000370754.5	-	39	5577	c.5578C>T	c.(5578-5580)Cta>Tta	p.L1860L	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.L1682L|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Silent_p.L1682L|DST_ENST00000446842.2_Silent_p.L1356L|DST_ENST00000370769.4_Silent_p.L1682L			Q03001	DYST_HUMAN	dystonin	1682					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)			GCCTTCTGTAGGGTCAACTGT	0.428000													45	68					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39802258	39802258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:39802258C>T	ENST00000564288.1	+	37	10775	c.9998C>T	c.(9997-9999)cCc>cTc	p.P3333L	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1773L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P3370L|MACF1_ENST00000372915.3_Missense_Mutation_p.P3338L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3338					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.P1773L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACAAACTCCCTTCATGACT	0.463000													31	57					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820738	55820738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820738C>T	ENST00000328314.3	+	1	701	c.701C>T	c.(700-702)gCc>gTc	p.A234V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGAAAAAAAGCCTTTTCAACC	0.378000													9	22					0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954904	117954904	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:117954904C>T	ENST00000378279.3	+	2	477	c.432C>T	c.(430-432)tcC>tcT	p.S144S	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	144																	CATCAGACTCCCAAAGCCCAA	0.483000													43	72					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889119	38889119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38889119C>T	ENST00000302328.3	-	26	4640	c.4442G>A	c.(4441-4443)cGa>cAa	p.R1481Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.R1481Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1443Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1481					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGATTCCTCGTGCAGCCCG	0.488000													17	39					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64716295	64716295	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64716295G>A	ENST00000557772.1	-	6	1193	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	ESR2_ENST00000553796.1_Silent_p.L398L|ESR2_ENST00000555278.1_Silent_p.L398L|ESR2_ENST00000542956.1_Silent_p.L398L|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000554572.1_Silent_p.L398L|ESR2_ENST00000341099.4_Silent_p.L398L|ESR2_ENST00000353772.3_Silent_p.L398L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Silent_p.L398L|ESR2_ENST00000358599.5_Silent_p.L398L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	398	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTTGACACAGAGATATTCTT	0.428000													54	49					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138444	126138444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:126138444G>A	ENST00000299308.3	+	9	2433	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E321K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	809						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATAAATCGGGAATATAAAGA	0.488000													29	56					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949993	118949993	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:118949993C>T	ENST00000328252.3	+	2	1345	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	326	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGCCTCCTCTGTGCGGACA	0.567000													32	23					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250828	24250828	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24250828C>T	ENST00000538205.1	+	4	571	c.24C>T	c.(22-24)atC>atT	p.I8I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.I87I|ADAMDEC1_ENST00000522298.1_Silent_p.I8I	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	87					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAGAAGAAATCATTCTCTCCC	0.333000													19	67					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773515	137773515	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:137773515G>A	ENST00000242375.3	+	2	303		c.e2+1		AKR1D1_ENST00000432161.1_Splice_Site|AKR1D1_ENST00000411726.2_Splice_Site|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1						androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTGTGGAAAGGTGAGATCTTG	0.463000													9	6					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9737125	9737125	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:9737125T>C	ENST00000262441.5	+	2	704	c.189_splice	c.e2-1	p.V64_splice	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	64					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTGCTCAGGTTACAGGATCC	0.493000													27	15					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948050	119948050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:119948050G>A	ENST00000307142.4	+	3	722	c.526G>A	c.(526-528)Gga>Aga	p.G176R	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G176R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G176R	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	176						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCAAAGAGGACGCGTGGC	0.542000													8	47					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134757	81134757	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81134757G>A	ENST00000533478.1	-	0	5405				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGCTGGTCGAGAGTGGCGA	0.582000													10	46					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580518	82580518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82580518G>A	ENST00000423517.2	-	6	9723	c.9386C>T	c.(9385-9387)tCa>tTa	p.S3129L	PCLO_ENST00000333891.8_Missense_Mutation_p.S3129L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3060					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						GGCAGGTAATGAAGTCACTGC	0.448000													12	34					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724825	39724825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39724825C>T	ENST00000246662.4	-	5	1170	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	KRT9_ENST00000588431.1_Missense_Mutation_p.E136K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	369	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGGGTCACCTCCTTGGCACTG	0.547000													179	416					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329971	50329971	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50329971G>A	ENST00000336089.4	-	3	286	c.286_splice	c.e3-1	p.A96_splice	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	101							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGGCGGCTAGCTGCGCGTAG	0.657000													18	45					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115593014	115593014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:115593014C>T	ENST00000371894.4	-	2	382	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	79						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TACCAATATTCGCTTCTGCCT	0.428000													70	33					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77134244	77134244	+	Missense_Mutation	SNP	G	G	A	rs75375920	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:77134244G>A	ENST00000563290.1	-	5	319	c.224C>T	c.(223-225)tCg>tTg	p.S75L	SCAPER_ENST00000324767.7_Missense_Mutation_p.S75L|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	74						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGTCGTAGACGATGTTATTTT	0.353000													26	47					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255333	9255333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:9255333G>A	ENST00000383440.2	+	8	2256	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	ANKRD12_ENST00000262126.3_Missense_Mutation_p.E690K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E667K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	690						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gaggagtgtggaatttgatag	0.294000													19	26					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64081797	64081797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64081797C>T	ENST00000405666.1	+	4	763	c.529C>T	c.(529-531)Cct>Tct	p.P177S	ESRRA_ENST00000406310.1_Missense_Mutation_p.P177S|ESRRA_ENST00000000442.6_Missense_Mutation_p.P177S			P11474	ERR1_HUMAN	estrogen-related receptor alpha	177					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGGCCCCTTCCCTGCTGGGCC	0.672000													5	5					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	G	A	rs142494640		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158436237G>A	ENST00000289451.2	+	1	966	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000													44	83					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13379373	13379373	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:13379373G>A	ENST00000254508.5	-	26	3598	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1172					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGGGGCGCGGATCCTCACGG	0.642000													13	35					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583265	2583265	+	Silent	SNP	G	G	A	rs143192367		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:2583265G>A	ENST00000340611.4	-	5	1018	c.762C>T	c.(760-762)ccC>ccT	p.P254P		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	254					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGTGTGCGGCGGGGATGGGGT	0.682000													28	89					0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21734066	21734066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:21734066G>A	ENST00000314759.5	-	6	1014	c.890C>T	c.(889-891)cCa>cTa	p.P297L	SKA3_ENST00000400018.3_Missense_Mutation_p.P297L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	297					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGTAGATGGAATTTTCAA	0.358000													70	61					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53803251	53803251	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53803251T>C	ENST00000426431.2	+	5	1989	c.1929T>C	c.(1927-1929)caT>caC	p.H643H	SP1_ENST00000327443.4_Silent_p.H650H	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	650	VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TGCGCTGGCATACAGGCGAGA	0.532000													38	64					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041246	207041246	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207041246A>C	ENST00000407325.2	-	3	1088	c.726T>G	c.(724-726)agT>agG	p.S242R	GPR1_ENST00000437420.1_Missense_Mutation_p.S242R	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	242						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGAAATGCCTACTGGAGATCA	0.428000													16	37					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174864	21174864	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:21174864G>A	ENST00000255882.6	-	5	578	c.492C>T	c.(490-492)ctC>ctT	p.L164L	PI4KA_ENST00000572273.1_Silent_p.L106L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	106					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)			ACATCCCCAAGAGGACATGCA	0.363000													35	65					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977325	21977325	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21977325G>A	ENST00000381418.4	-	14	4405	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	HR_ENST00000312841.8_Silent_p.L975L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	975	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCCCGGTGGGAGGTAGGAAG	0.627000													37	62					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2473350	2473350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2473350G>A	ENST00000278772.4	-	5	786	c.299C>T	c.(298-300)tCa>tTa	p.S100L	ZNF343_ENST00000358413.2_Missense_Mutation_p.S100L|ZNF343_ENST00000381253.1_Missense_Mutation_p.S100L|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.S100L	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	100	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTTACCCAATGAGAGAAGATT	0.383000													52	86					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489701	76489701	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:76489701A>G	ENST00000435974.2	+	3	507	c.489A>G	c.(487-489)agA>agG	p.R163R	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATCCTTCAGAAAAAAGCAAC	0.363000													6	29					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176856	140176856	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140176856C>T	ENST00000526136.1	+	1	2307	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.L769L|PCDHA2_ENST00000520672.2_Silent_p.L769L|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGACCTCATGGCCTTCA	0.572000													6	60					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897656	175897656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:175897656C>T	ENST00000359240.3	+	5	1650	c.980C>T	c.(979-981)tCa>tTa	p.S327L	ADAM29_ENST00000445694.1_Missense_Mutation_p.S327L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S327L|ADAM29_ENST00000514159.1_Missense_Mutation_p.S327L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	327	Peptidase M12B.				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)		GGCACTTTTTCAATTGCAGTG	0.408000													49	139					0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153955017	153955017	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:153955017C>A	ENST00000368575.3	-	6	589	c.474G>T	c.(472-474)gtG>gtT	p.V158V	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	158					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACCTCATCCACATTCATAC	0.463000													53	79					1.19403e-26	1.22195e-26	1	1	0
TACC1	6867	broad.mit.edu	37	8	38700836	38700836	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:38700836G>A	ENST00000379931.3	+	12	2566	c.2187G>A	c.(2185-2187)caG>caA	p.Q729Q	TACC1_ENST00000317827.4_Silent_p.Q717Q|TACC1_ENST00000520615.1_Silent_p.Q522Q|TACC1_ENST00000519416.1_Silent_p.Q521Q|TACC1_ENST00000520973.1_Silent_p.Q493Q|TACC1_ENST00000348567.4_Silent_p.Q279Q|TACC1_ENST00000443286.2_Silent_p.Q704Q|TACC1_ENST00000518415.1_Silent_p.Q643Q|TACC1_ENST00000520611.1_Silent_p.Q154Q|TACC1_ENST00000276520.8_Silent_p.Q307Q|TACC1_ENST00000330691.6_Silent_p.Q291Q			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	717	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATGTGCTCAGGATTACTTAG	0.378000													69	182					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31912779	31912779	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31912779C>T	ENST00000299367.5	+	17	2328	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	C2_ENST00000469372.1_Silent_p.F438F|C2_ENST00000442278.2_Silent_p.F552F|CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Silent_p.F470F|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGCAGTTTTCCTTGAGCGGA	0.552000													91	136					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47042306	47042306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47042306C>T	ENST00000371944.4	-	4	318	c.44G>A	c.(43-45)gGc>gAc	p.G15D	MKNK1_ENST00000545730.1_Silent_p.G85G|MKNK1_ENST00000371946.4_Silent_p.G85G|MKNK1_ENST00000428112.2_Silent_p.G85G|MKNK1_ENST00000341183.5_Silent_p.G85G|MKNK1_ENST00000371945.4_Silent_p.G85G			Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	0					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCGACTGTGCCCTGCTTGTT	0.517000													22	108					0	0	1	0	0
ARF4	378	broad.mit.edu	37	3	57570183	57570183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57570183C>T	ENST00000303436.6	-	2	343	c.76G>A	c.(76-78)Gat>Aat	p.D26N	ARF4_ENST00000489843.1_Intron|ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000496292.1_Intron	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	26					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CCAGCAGCATCCAATCCAACT	0.333000													71	114					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311112	84311112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:84311112G>A	ENST00000428679.2	-	16	1795	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	SNAP91_ENST00000195649.6_Missense_Mutation_p.S401L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S401L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S401L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S401L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S401L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S399L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	401	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATGGATCTGAAATCTGTGC	0.453000													7	28					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624321	5624321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:5624321G>A	ENST00000310917.2	-	14	2935	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	EVC2_ENST00000344938.1_Missense_Mutation_p.P815L|EVC2_ENST00000344408.5_Missense_Mutation_p.P815L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	815						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CACGGCCTCAGGAGCGTCATC	0.632000													27	24					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334627	50334627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50334627C>T	ENST00000312865.6	+	10	1192	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	MED25_ENST00000538643.1_Missense_Mutation_p.S167F	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	380	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGCGGCCCTTCCCCAGCCCAG	0.697000													5	5					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:17280821C>T	ENST00000331428.5	-	3	531	c.429G>A	c.(427-429)acG>acA	p.T143T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403000													62	106					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722890	94722890	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:94722890G>A	ENST00000304338.3	+	17	2113	c.1959G>A	c.(1957-1959)agG>agA	p.R653R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	653						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTGTGTGAGGAAACTCCTGT	0.368000													5	25					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32520652	32520652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32520652C>T	ENST00000281474.5	+	9	2916	c.2813C>T	c.(2812-2814)gCc>gTc	p.A938V	BICD1_ENST00000548411.1_3'UTR	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	938					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCACAACTAGCCGGGAGGCAA	0.512000													36	56					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381082	147381082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:147381082G>T	ENST00000240986.4	+	2	1053	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	GJA8_ENST00000369235.1_Nonsense_Mutation_p.E334*	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	334					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)					AGTGGAGGGCGAGGGGCCGCC	0.652000													7	8					8.12818e-05	8.16817e-05	1	1	0
LRP10	26020	broad.mit.edu	37	14	23345369	23345369	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23345369C>T	ENST00000359591.4	+	5	1903	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	LRP10_ENST00000546834.1_Silent_p.F404F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	404	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCAATTTCCGATGCCGGG	0.592000													73	55					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82049104	82049104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:82049104C>T	ENST00000372213.3	-	1	336	c.76G>A	c.(76-78)Gga>Aga	p.G26R		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	26					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCCTCTCCCACAGACTCC	0.483000													33	95					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603262	37603262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:37603262G>A	ENST00000399151.3	+	14	2265	c.2180G>A	c.(2179-2181)gGg>gAg	p.G727E		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	727					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAAAAACGGGGGAGAATGG	0.572000													20	39					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265618	37265618	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37265618G>A	ENST00000315392.4	-	3	493	c.282C>T	c.(280-282)tcC>tcT	p.S94S	PLXDC1_ENST00000394316.2_Silent_p.S94S|PLXDC1_ENST00000539608.1_Silent_p.S21S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.S54S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	94					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CATAGAGACGGGACACATAAT	0.587000													7	16					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108160068	108160068	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108160068A>T	ENST00000273353.3	-	24	2811	c.2755T>A	c.(2755-2757)Tgg>Agg	p.W919R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	919						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						TTAATCAGCCACTCGCACTGC	0.493000													36	70					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13273072	13273072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13273072G>A	ENST00000262487.3	+	5	845	c.839G>A	c.(838-840)gGa>gAa	p.G280E	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	280						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCTTGCGGGAAGCGAGGAG	0.388000													10	14					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132398374	132398374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:132398374C>T	ENST00000321867.4	+	15	1591	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	414	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCCCCCAGTCCCTCAGGGTA	0.692000													17	39					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112237856	112237856	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112237856G>A	ENST00000261733.2	+	11	1456	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	ALDH2_ENST00000416293.3_Silent_p.A418A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCCTCCAGGCGGGCACTGTGT	0.567000			T	HMGA2	leiomyoma								16	16					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153076450	153076450	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:153076450C>G	ENST00000367244.3	+	4	449	c.277C>G	c.(277-279)Ctc>Gtc	p.L93V	VIP_ENST00000367243.3_Missense_Mutation_p.L93V	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	93					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCAGTAAACTCTTGGGTCA	0.313000													21	55					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624121	121624121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:121624121C>T	ENST00000393386.2	+	8	1289	c.878C>T	c.(877-879)tCt>tTt	p.S293F	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S293F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	293	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TACAAGTTCTCTAGACAGGTG	0.353000													65	69					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987314	2987314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2987314C>T	ENST00000399667.2	+	9	2216	c.1853C>T	c.(1852-1854)cCg>cTg	p.P618L	FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P568L|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.P569L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	569						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TGCCACCCACCGGACCTGGGC	0.726000													14	5					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350867	101350867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101350867C>T	ENST00000534062.1	-	1	317	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	87										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCTATTTCCTTACGTGGG	0.557000													20	24					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970116	118970116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:118970116G>A	ENST00000515256.1	+	3	845	c.673G>A	c.(673-675)Gag>Aag	p.E225K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	225						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGTGACCATGGAGAACGGCTT	0.587000													23	133					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130353461	130353461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:130353461G>A	ENST00000358511.6	+	26	5051	c.5020G>A	c.(5020-5022)Gga>Aga	p.G1674R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1674R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1674	Triple-helical region.				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						TGGAGAAAGTGGACCTAAGGT	0.413000													9	13					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528502	65528502	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:65528502T>C	ENST00000310193.3	-	3	769	c.596A>G	c.(595-597)aAa>aGa	p.K199R		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	199					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACAATAACTTTTCCATATAT	0.328000													16	36					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1585293	1585293	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:1585293C>T	ENST00000572621.1	-	4	739	c.474G>A	c.(472-474)agG>agA	p.R158R	PRPF8_ENST00000304992.6_Silent_p.R158R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	158						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAATGCCTCCTATCTCTTT	0.507000													20	20					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347874	89347874	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89347874G>A	ENST00000301030.4	-	9	5536	c.5076C>T	c.(5074-5076)tcC>tcT	p.S1692S	ANKRD11_ENST00000378330.2_Silent_p.S1692S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1692						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGGCCTGGGGGACGCAGGCA	0.637000													57	71					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896136	12896136	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:12896136C>T	ENST00000338034.4	-	24	2719	c.2480G>A	c.(2479-2481)tGa>tAa	p.*827*	ELAC2_ENST00000426905.3_Silent_p.*787*|ELAC2_ENST00000395962.2_Silent_p.*808*	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	0					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCCAGATCTTCACTGGGCTCT	0.627000													19	15					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918201	50918201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50918201G>A	ENST00000442544.2	+	17	3248	c.2632G>A	c.(2632-2634)Gtg>Atg	p.V878M	DCC_ENST00000581580.1_Missense_Mutation_p.V513M|DCC_ENST00000412726.1_Missense_Mutation_p.V706M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	878	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACGTCTGAGGTGCGACTTTA	0.473000													36	77					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114793396	114793396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:114793396C>A	ENST00000334062.7	-	6	578	c.457G>T	c.(457-459)Gag>Tag	p.E153*	RASA3_ENST00000389544.4_Nonsense_Mutation_p.E121*|RASA3_ENST00000542651.1_Missense_Mutation_p.R121L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	153	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCCTGGCACTCGACGATGCTG	0.627000													25	19					9.22233e-05	9.26466e-05	1	1	0
GLT8D2	83468	broad.mit.edu	37	12	104391273	104391273	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104391273T>C	ENST00000360814.4	-	7	848	c.443A>G	c.(442-444)cAa>cGa	p.Q148R	GLT8D2_ENST00000546436.1_Missense_Mutation_p.Q148R|GLT8D2_ENST00000548660.1_Missense_Mutation_p.Q148R	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	148						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTTCTCGTGTTGGTGGATAAG	0.408000													70	126					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851436	61851436	+	Silent	SNP	G	G	A	rs140336916	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:61851436G>A	ENST00000577390.1	-	7	2178	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	CDH8_ENST00000584337.1_Silent_p.S408S|CDH8_ENST00000299345.6_Silent_p.S408S|CDH8_ENST00000577730.1_Silent_p.S408S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	408	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCCAATCACGGAGTTTAGAG	0.443000													26	35					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147806	67147806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:67147806C>T	ENST00000371037.4	+	15	1146	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P361S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	357	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCCCCAGGTCCCACAGGCCC	0.587000													101	143					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189360	50189360	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50189360C>T	ENST00000335999.6	-	8	2484	c.2283G>A	c.(2281-2283)gtG>gtA	p.V761V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	757										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTCCAGGTCCACCCGGGCCC	0.662000													13	14					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36291082	36291082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36291082G>A	ENST00000301175.3	-	11	1486	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	490					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCAAGGAGCCATAGGG	0.552000													3	7					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564423	140564423	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140564423G>A	ENST00000361016.2	+	1	3444	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		763					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAAGTGAGTTCAAGTTCC	0.493000													55	70					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12975863	12975863	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12975863C>T	ENST00000251472.4	+	14	1548	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	503	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTACAGCCTCCTTATCACCT	0.557000													44	39					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000613	121000613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:121000613G>A	ENST00000392793.1	+	10	2905	c.2634G>A	c.(2632-2634)tgG>tgA	p.W878*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.W878*			O75443	TECTA_HUMAN	tectorin alpha	878	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGAAAGCTGGACAACTTTCG	0.562000													18	70					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620323	68620323	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:68620323G>A	ENST00000234313.7	+	7	971	c.792G>A	c.(790-792)agG>agA	p.R264R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	264	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAAAGTGAGGAAGTTCATCT	0.428000													51	117					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37436352	37436352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37436352C>T	ENST00000374660.1	+	9	1441	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Q448*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q448*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	504						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						GTCTATATATCAAAAAGTAAT	0.279000													13	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681713	100681713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100681713C>T	ENST00000306151.4	+	3	7080	c.7016C>T	c.(7015-7017)cCa>cTa	p.P2339L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2339	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAACACTCCATTAACACGT	0.478000													157	467					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358286	72358286	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:72358286G>A	ENST00000441259.1	-	3	1351	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C	PRF1_ENST00000373209.2_Silent_p.C397C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	397	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTGAGCCATGGCACACACACT	0.682000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				3	22					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430373	51430373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51430373G>A	ENST00000323686.4	+	1	1643	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	515					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGCTCACAGATGGATACAC	0.612000													38	97					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916375	72916375	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72916375G>A	ENST00000319642.1	-	2	738	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	186					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGCGGCTCAGGGTGCTGGAC	0.682000													21	54					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105072	160105072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:160105072G>A	ENST00000361216.3	+	15	2191	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G701E|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	701					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGGAGGGATGTCAGAGG	0.582000													51	132					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813291	214813291	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214813291T>C	ENST00000366955.3	+	12	1778	c.1610T>C	c.(1609-1611)tTa>tCa	p.L537S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	537					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAACCATGTTAAGAGATCTT	0.353000													50	104					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850319	128850319	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128850319A>G	ENST00000249373.3	+	9	1862	c.1582A>G	c.(1582-1584)Act>Gct	p.T528A	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	528					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATGTTTGGAACTGGCATCGC	0.612000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	106					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72057395	72057395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72057395G>A	ENST00000355327.3	+	16	2760	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E876K|THSD4_ENST00000357769.4_Missense_Mutation_p.E516K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	876	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAACAGAGGGAGGTGATTTG	0.512000													40	88					0	0	1	0	0
KANTR	102723508	broad.mit.edu	37	X	53172141	53172141	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:53172141C>T	ENST00000604849.1	+	0	704																											GCATGATGAACTTGATCTTCA	0.542000													40	16					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312210	31312210	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31312210T>A	ENST00000597505.1	-	5	943	c.944A>T	c.(943-945)aAa>aTa	p.K315I	DCDC1_ENST00000452803.1_Missense_Mutation_p.K315I			P59894	DCDC1_HUMAN	doublecortin domain containing 1	315					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTGTTTCTTTTCCCACTGT	0.323000													15	31					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177029	71177029	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:71177029G>A	ENST00000333538.5	+	11	2329	c.1695G>A	c.(1693-1695)acG>acA	p.T565T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	565	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACAAGGGCACGGGACGCTGCC	0.567000													105	92					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235247	50235247	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:50235247G>A	ENST00000338821.5	-	21	2568	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	ATP9A_ENST00000311637.5_Silent_p.I632I|ATP9A_ENST00000402822.1_Silent_p.I647I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	768					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGGCGCACGATCTGGGCCT	0.647000													33	43					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202073875	202073875	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:202073875C>T	ENST00000286186.6	+	9	1440	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	CASP10_ENST00000272879.5_Silent_p.V335V|CASP10_ENST00000448480.1_Silent_p.V292V|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Silent_p.V292V|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Silent_p.V268V	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	335					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TGGAGATGGTCCTGCAGAAGC	0.468000													39	129					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631209	91631209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:91631209G>A	ENST00000359028.2	+	9	2239	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S	AKAP9_ENST00000356239.3_Missense_Mutation_p.G660S|AKAP9_ENST00000358100.2_Missense_Mutation_p.G672S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	672	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAATTTAGGCATTCACTA	0.308000			T	BRAF	papillary thyroid								46	44					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491078	58491078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:58491078G>A	ENST00000341164.4	-	7	1590	c.970C>T	c.(970-972)Caa>Taa	p.Q324*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.Q234*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTAAAGATTTGATGGCATTCC	0.313000													36	43					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931188	157931188	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:157931188G>A	ENST00000389413.3	-	7	1033	c.930C>T	c.(928-930)ctC>ctT	p.L310L	PTPRN2_ENST00000389418.4_Silent_p.L310L|PTPRN2_ENST00000389416.4_Silent_p.L293L|PTPRN2_ENST00000404321.2_Silent_p.L333L|PTPRN2_ENST00000409483.1_Silent_p.L272L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	310						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)		GGTCCTTCAGGAGGGTATGAA	0.617000													80	49					0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24124654	24124654	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:24124654G>A	ENST00000374497.3	-	5	395	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	102					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TAATAATCCAGAGGCTTCTGC	0.587000													34	87					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29572389	29572389	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29572389T>C	ENST00000377034.4	-	22	2929	c.2594A>G	c.(2593-2595)gAa>gGa	p.E865G	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.E748G|GABBR1_ENST00000377012.4_Missense_Mutation_p.E748G|GABBR1_ENST00000377016.4_Missense_Mutation_p.E803G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	865					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CGACTGCCATTCCCCTCGGGT	0.587000													38	58					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739054	3739054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:3739054G>A	ENST00000541714.2	+	13	2015	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	TJP3_ENST00000539908.2_Missense_Mutation_p.R482Q|TJP3_ENST00000587686.1_Missense_Mutation_p.R537Q|TJP3_ENST00000262968.9_Missense_Mutation_p.R551Q|TJP3_ENST00000589378.1_Missense_Mutation_p.R527Q|TJP3_ENST00000382008.3_Missense_Mutation_p.R532Q	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	532	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACGCACGAGGAGGCCAC	0.692000													54	35					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189528	92189528	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:92189528G>A	ENST00000256343.3	-	4	330	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	58					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAACACTGGATTTTCTTTA	0.348000													3	24					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57594310	57594310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57594310C>T	ENST00000243077.3	+	63	10566	c.10100C>T	c.(10099-10101)cCg>cTg	p.P3367L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3367	LDL-receptor class A 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGAGCCCCCGGACTGCCGT	0.637000													43	56					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647786	51647786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51647786G>A	ENST00000317643.6	+	2	626	c.557G>A	c.(556-558)gGg>gAg	p.G186E	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	186	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTGGATGGGGACCTCTGTG	0.652000													68	139					0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63547712	63547712	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:63547712A>G	ENST00000321437.4	+	4	409	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	RAB8B_ENST00000448330.2_Missense_Mutation_p.M85V	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	85					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ATAGGGCATTATGCTGGTCTA	0.313000													16	29					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045032	55045032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55045032C>T	ENST00000335056.3	+	3	190	c.152C>T	c.(151-153)tCc>tTc	p.S51F																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCCTGTCATTCCCATCTTCGG	0.542000													21	41					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334613	142334613	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142334613C>T	ENST00000390394.3	+	0	113																											TCAGCAGGCTCCGGGCTTGGT	0.592000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	101					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447196	17447196	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:17447196T>C	ENST00000541323.1	+	3	720	c.275T>C	c.(274-276)gTa>gCa	p.V92A	PDGFRL_ENST00000251630.6_Missense_Mutation_p.V92A|PDGFRL_ENST00000398074.3_Missense_Mutation_p.V92A	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	92	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGGCAAACTGTAGAGCTTCGA	0.483000													31	81					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181170	140181170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140181170G>A	ENST00000522353.2	+	1	388	c.388G>A	c.(388-390)Gcg>Acg	p.A130T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A130T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGACAACGCGCCAGTTTT	0.547000													72	70					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866180	131866180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131866180C>T	ENST00000359827.3	-	18	4414	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1151E			Q9HCM2	PLXA4_HUMAN	plexin A4	1151	IPT/TIG 4.					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						CTCCAGGATTCCTGAGGGACC	0.577000													71	215					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12304631	12304631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12304631C>T	ENST00000358136.3	+	5	534	c.404C>T	c.(403-405)tCa>tTa	p.S135L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S135L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	135					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATTGGTATTCAGTTACCGCC	0.418000													40	62					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210863	35210863	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35210863C>G	ENST00000274938.7	+	15	1759	c.1759C>G	c.(1759-1761)Ctc>Gtc	p.L587V	SCUBE3_ENST00000394681.1_Missense_Mutation_p.L603V	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	587					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						CCTGAAGATGCTCAGAAAGTC	0.627000													33	71					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965211	123965211	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:123965211C>T	ENST00000314393.4	+	3	2296	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	487	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAAGTGGTTCAGTGACCACC	0.587000													34	30					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155810	103155810	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103155810G>A	ENST00000424685.2	-	50	8100	c.7941C>T	c.(7939-7941)ggC>ggT	p.G2647G	RELN_ENST00000343529.5_Silent_p.G2647G|RELN_ENST00000428762.1_Silent_p.G2647G			P78509	RELN_HUMAN	reelin	2647					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)		TCTGATCCAGGCCGTCATGTC	0.532000													6	33					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274581	47274581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:47274581C>T	ENST00000337137.4	+	5	836	c.670C>T	c.(670-672)Cct>Tct	p.P224S	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P177S|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P146S|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P165S|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.P177S	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	224	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTCCGGAATCCCTAAGCCAGT	0.527000													41	87					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970781	123970781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:123970781G>A	ENST00000369005.1	+	9	7181	c.6841G>A	c.(6841-6843)Gaa>Aaa	p.E2281K	TACC2_ENST00000334433.3_Missense_Mutation_p.E2281K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2236K|TACC2_ENST00000360561.3_Missense_Mutation_p.E359K|TACC2_ENST00000368999.1_Missense_Mutation_p.E359K|TACC2_ENST00000513429.1_Missense_Mutation_p.E427K|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.E427K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2285K|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.E2285K|TACC2_ENST00000260733.3_Missense_Mutation_p.E359K|TACC2_ENST00000369004.3_Missense_Mutation_p.E359K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2281						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAACCAGCAGGAAAACCCCCC	0.512000													10	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115793	168115793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168115793C>T	ENST00000409728.1	+	11	2925	c.2836C>T	c.(2836-2838)Ccc>Tcc	p.P946S	XIRP2_ENST00000409043.1_Missense_Mutation_p.P913S|XIRP2_ENST00000420519.1_Missense_Mutation_p.P946S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P691S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P913S|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCTTTGTTTCCCAGAGTGGA	0.438000													30	55					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86362103	86362103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:86362103G>A	ENST00000254630.7	+	21	1837	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	591						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACTCAGGAAGCCTGGTG	0.458000													31	85					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697103	17697103	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:17697103C>T	ENST00000399080.2	-	1	2603	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	860										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTATCTTTCTCTTCCTTTT	0.279000													4	4					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388739	80388739	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:80388739A>T	ENST00000265080.4	+	10	1577	c.1510A>T	c.(1510-1512)Ata>Tta	p.I504L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	504	PH 2.				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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACACTTTTTAATATGTACAAG	0.383000													16	71					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350649	135350649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135350649G>A	ENST00000463117.2	+	9	1322	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	CYP2E1_ENST00000252945.3_Missense_Mutation_p.M350I|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	350					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGCCCTACATGGATGCTGTGG	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				39	83					0	0	1	0	0
IGLV9-49	28773	broad.mit.edu	37	22	22697965	22697965	+	RNA	SNP	C	C	T	rs112293276		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:22697965C>T	ENST00000427632.2	+	0	290																											CATCCCTGATCGCTTCTCAGT	0.577000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790723	57790723	+	Silent	SNP	C	C	T	rs138779343		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:57790723C>T	ENST00000396776.2	+	3	822	c.360C>T	c.(358-360)ttC>ttT	p.F120F	GAPT_ENST00000318469.2_Silent_p.F120F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	120					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGTCTAATTTCGAGGAGCATA	0.388000													44	37					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700062	164700062	+	Missense_Mutation	SNP	G	G	A	rs139504152	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:164700062G>A	ENST00000264382.3	-	47	5446	c.5384C>T	c.(5383-5385)tCg>tTg	p.S1795L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1795	Sucrase.				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)	AAAAGGAAGCGAATTTTTATT	0.343000										HNSCC(35;0.089)			25	19					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47860906	47860906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47860906G>A	ENST00000359568.5	+	43	9639	c.9532G>A	c.(9532-9534)Ggg>Agg	p.G3178R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3178	Interaction with NEK2.				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)					TGCCCATTTGGGGGTATTTCC	0.433000													14	63					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212013	131212013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:131212013G>A	ENST00000298542.4	-	12	2207	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	FRMD7_ENST00000370879.1_Missense_Mutation_p.R558C|FRMD7_ENST00000464296.1_Missense_Mutation_p.R663C	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	678					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAAGACAGGCGGATTCTGGCC	0.398000													42	10					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112168762	112168762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:112168762G>A	ENST00000412145.1	-	13	3932	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	PTPN3_ENST00000446349.1_Missense_Mutation_p.A415V|PTPN3_ENST00000394827.3_Missense_Mutation_p.A59V|PTPN3_ENST00000262539.3_Missense_Mutation_p.A437V|PTPN3_ENST00000374541.2_Missense_Mutation_p.A591V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	591					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATCACCAGGGCCAGCTCCCG	0.572000													94	52					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354628	45354628	+	Missense_Mutation	SNP	G	G	A	rs143235900		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:45354628G>A	ENST00000359271.2	+	2	1203	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	318						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCCTCGTCAGCTTTGCCGTG	0.667000													32	47					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619375	48619375	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48619375C>T	ENST00000328333.8	-	47	4744	c.4635_splice	c.e47-1	p.G1546_splice	COL7A1_ENST00000454817.1_Splice_Site_p.G1546_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1546	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACAGCAGGTCCCTGAAAACA	0.493000													100	172					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3562382	3562382	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3562382G>A	ENST00000571025.1	+	5	449		c.e5-1		CLUAP1_ENST00000576634.1_Splice_Site|CLUAP1_ENST00000341633.5_Splice_Site|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000572600.1_Intron|CLUAP1_ENST00000417763.2_Splice_Site			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1							nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TTTCCTTCCAGATTGCAGATT	0.463000													34	28					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547299	78547299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:78547299G>A	ENST00000545128.1	+	2	735	c.197G>A	c.(196-198)gGg>gAg	p.G66E	PCSK5_ENST00000376752.4_Missense_Mutation_p.G66E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G66E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	66					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						TTGCAGATAGGGGCCCTGAAG	0.413000													30	17					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058928	248058928	+	Silent	SNP	C	C	T	rs147416022	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248058928C>T	ENST00000537741.1	+	3	297	c.40C>T	c.(40-42)Cta>Tta	p.L14L	OR2W3_ENST00000360358.3_Silent_p.L14L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATTTCATCCTACTGGGATT	0.468000													28	36					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74611020	74611020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74611020C>T	ENST00000253159.8	+	11	1928	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T579I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	577					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAATTTCGAACCTCAGGCCAT	0.388000													34	76					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615147	10615147	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:10615147C>T	ENST00000547195.1	-	16	2295		c.e16-1		MRVI1_ENST00000424001.1_Splice_Site|MRVI1_ENST00000558540.1_Splice_Site|MRVI1_ENST00000534266.2_Splice_Site|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000541483.1_Splice_Site|MRVI1_ENST00000527509.2_Splice_Site|MRVI1_ENST00000436272.1_Splice_Site|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000552103.1_Splice_Site|MRVI1_ENST00000545852.1_Splice_Site|MRVI1_ENST00000421747.1_Splice_Site|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Splice_Site|MRVI1_ENST00000531107.1_Splice_Site	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog						platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGGCATATTCTGCAGGAAGA	0.507000													10	20					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6882409	6882409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6882409G>A	ENST00000203629.2	+	2	443	c.110G>A	c.(109-111)gGg>gAg	p.G37E	LAG3_ENST00000441671.2_Missense_Mutation_p.G37E	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	37	Ig-like V-type.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCAGGAGGGGGCTCCTGCC	0.657000													27	52					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209761	30209761	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:30209761C>T	ENST00000518096.1	+	0	373																											TCGCTCAGGTCCTTTTGGCCA	0.522000													37	113					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62499338	62499338	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:62499338G>A	ENST00000283269.9	-	17	2836	c.2625C>T	c.(2623-2625)gcC>gcT	p.A875A	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000383710.4_Intron	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	865	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCACTTGGGAGGCCAAGCAGA	0.423000													5	10					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536184	44536184	+	Silent	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44536184T>G	ENST00000187879.8	+	4	519	c.357T>G	c.(355-357)ggT>ggG	p.G119G	ZNF222_ENST00000391960.3_Silent_p.G159G|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTTTCCAGGGTGAAAATTGTA	0.388000													32	53					0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19244145	19244145	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:19244145A>G	ENST00000289119.2	-	5	741	c.602T>C	c.(601-603)gTt>gCt	p.V201A	ABHD3_ENST00000580981.1_Intron|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	201						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ATGGTGAATAACTGTCTCCAA	0.423000													26	36					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788875	13788875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13788875C>T	ENST00000265104.4	-	51	8701	c.8597G>A	c.(8596-8598)gGa>gAa	p.G2866E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2866					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)					TGTGTCAATTCCACAATCCAC	0.413000									Kartagener syndrome				12	126					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563600	55563600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55563600C>T	ENST00000335605.1	+	1	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATCTCTGTGTCTGGCTCTGAT	0.448000													54	134					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90492292	90492292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:90492292C>T	ENST00000404190.1	+	5	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	218					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACAACCCTTTCCAGGCGAGTA	0.353000													46	102					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339032	36339032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36339032C>T	ENST00000378910.5	-	11	1350	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E451K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	451	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCTGGCCCTCTGGGGGACCC	0.617000													26	100					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8672856	8672856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:8672856C>T	ENST00000299665.2	+	5	612	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	140	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGACGGCTTTCCTATTTCCTT	0.403000													32	67					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128387	103128387	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:103128387C>T	ENST00000375735.2	+	69	10656	c.10512C>T	c.(10510-10512)ttC>ttT	p.F3504F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.F3511F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3504					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGTACTTCATTATTTCTG	0.423000													4	23					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96238358	96238358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:96238358C>T	ENST00000347108.3	-	19	2683	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	DZIP1_ENST00000361396.2_Missense_Mutation_p.E732K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E732K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E751K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	751					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACATCTTTTCAACTTTTTCA	0.308000													16	5					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583175	141583175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:141583175C>T	ENST00000442267.2	-	10	1749	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	559	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCAATCTCCTCCGTGGCG	0.473000													60	99					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929126	51929126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51929126G>A	ENST00000310914.5	-	4	460	c.398C>T	c.(397-399)tCc>tTc	p.S133F		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	133	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCCTGGGACTGCAGTGT	0.617000													40	100					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971254	45971254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45971254G>A	ENST00000391621.1	-	1	134	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	30	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GTGCCGCAGGGGAGCTCACAG	0.687000													45	76					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34501989	34501989	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34501989C>T	ENST00000374012.3	+	12	1824	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTGACACCTCCCAGGAACCTT	0.517000													38	60					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467864	10467864	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10467864C>T	ENST00000382483.3	-	4	3967	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1248					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)		TTTCCAGATCCCCTGGGCTCT	0.552000													30	60					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12309337	12309337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12309337C>T	ENST00000358136.3	+	6	635	c.505C>T	c.(505-507)Cct>Tct	p.P169S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	169					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCCTCCCATCCTTTTGCTTT	0.408000													19	32					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76973991	76973991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:76973991G>A	ENST00000426216.2	+	11	1077	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	ATP9B_ENST00000307671.7_Missense_Mutation_p.G354R	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	354					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATTTATACCGGAAAAGAGAC	0.328000													9	30					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74507457	74507457	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:74507457T>A	ENST00000355780.5	-	10	1227	c.1009A>T	c.(1009-1011)Atg>Ttg	p.M337L	STAU2_ENST00000522509.1_Missense_Mutation_p.M337L|STAU2_ENST00000517542.1_Missense_Mutation_p.M331L|STAU2_ENST00000521210.1_Missense_Mutation_p.M265L|STAU2_ENST00000523558.1_Missense_Mutation_p.M197L|STAU2_ENST00000521451.1_Missense_Mutation_p.M149L|STAU2_ENST00000519961.1_Missense_Mutation_p.M369L|STAU2_ENST00000524300.1_Missense_Mutation_p.M369L|STAU2_ENST00000521727.1_Missense_Mutation_p.M349L|STAU2_ENST00000522695.1_Missense_Mutation_p.M337L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	369	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGTAACAGCATTGCTTCTGCA	0.333000													30	79					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113835142	113835142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113835142C>T	ENST00000257549.4	-	6	603	c.481G>A	c.(481-483)Ggg>Agg	p.G161R		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	161					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCGATGGCCCCCGGCTTTTCC	0.672000													40	89					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035987	110035987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110035987C>T	ENST00000453089.2	+	5	2965	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P726L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P727L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	726							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GGCGACTACCCCTCTCCTCCA	0.582000													47	115					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502305	94502305	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94502305G>A	ENST00000370225.3	-	26	3939	c.3853C>T	c.(3853-3855)Ctg>Ttg	p.L1285L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1285					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)		CCCGCAAACAGAGGTCCTGAA	0.453000													47	148					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631247	179631247	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179631247G>A	ENST00000589042.1	-	41	9788	c.9564C>T	c.(9562-9564)ttC>ttT	p.F3188F	TTN_ENST00000460472.2_Silent_p.F3142F|TTN_ENST00000342992.6_Silent_p.F3188F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.F3142F|TTN_ENST00000591111.1_Silent_p.F3188F|TTN_ENST00000342175.6_Silent_p.F3142F|TTN_ENST00000360870.5_Silent_p.F3188F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2921							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)			CTTGAACTTGGAAATTGATTT	0.413000													16	50					0	0	1	0	0
MTFP1	51537	broad.mit.edu	37	22	30824461	30824461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30824461C>T	ENST00000355143.4	+	3	312	c.208C>T	c.(208-210)Cct>Tct	p.P70S	MTFP1_ENST00000266263.5_Silent_p.F147F|RP4-539M6.19_ENST00000439838.1_Silent_p.F319F|MTFP1_ENST00000407550.3_Silent_p.F124F	NM_001003704.2	NP_001003704.1			mitochondrial fission process 1											endometrium(1)|large_intestine(1)|lung(2)	4						CGGTGGATTTCCTCCTGGACT	0.597000													26	42					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58141738	58141738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:58141738C>T	ENST00000295956.4	+	41	6989	c.6824C>T	c.(6823-6825)cCc>cTc	p.P2275L	FLNB_ENST00000490882.1_Missense_Mutation_p.P2306L|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.P2234L|FLNB_ENST00000429972.2_Missense_Mutation_p.P2264L|FLNB_ENST00000419752.2_Missense_Mutation_p.P2095L|FLNB_ENST00000493452.1_Missense_Mutation_p.P2082L|FLNB_ENST00000358537.3_Missense_Mutation_p.P2251L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2275	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGAAAGCCCCTACCTGGTG	0.557000													36	75					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049481	41049481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41049481C>T	ENST00000399564.4	-	14	1852	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E23K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AACAGGGGCTCCAGAGCTTCT	0.483000													6	26					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111436584	111436584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:111436584C>T	ENST00000265162.5	+	8	1837	c.1495C>T	c.(1495-1497)Caa>Taa	p.Q499*	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	499					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)	AGAGAATTTTCAAAAAGGATG	0.308000													19	33					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053670	35053670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35053670C>T	ENST00000360359.3	+	22	3398	c.3260C>T	c.(3259-3261)tCc>tTc	p.S1087F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1087	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACAAAATCTTCCAAACCGGTG	0.627000													20	26					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626249	44626249	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:44626249G>A	ENST00000576629.1	+	10	4239	c.3744G>A	c.(3742-3744)ctG>ctA	p.L1248L	ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1248L|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1248						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCTCTGTGCTGAAACCCTTCT	0.547000													47	95					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52381849	52381849	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52381849G>A	ENST00000420323.2	+	12	2226	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	655	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCCCGGAAGAATCCCCTGT	0.607000													4	7					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205492641	205492641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:205492641C>T	ENST00000360066.2	+	3	462	c.161C>T	c.(160-162)cCc>cTc	p.P54L	CDK18_ENST00000429964.2_Missense_Mutation_p.P54L|CDK18_ENST00000506784.1_Missense_Mutation_p.P54L|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	52							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCAGAGACCCCCCGCAGGAG	0.682000													3	18					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791255	95791255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:95791255G>A	ENST00000260766.3	+	2	1086	c.452G>A	c.(451-453)gGa>gAa	p.G151E	PLCE1_ENST00000371380.2_Missense_Mutation_p.G151E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	151					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)				GTGTTCCCTGGAATTCAACTG	0.443000													34	59					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926358	128926358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:128926358C>T	ENST00000356892.3	+	5	611	c.497C>T	c.(496-498)cCt>cTt	p.P166L		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	166										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GAGGAACCACCTGCCCCCCAG	0.622000													103	35					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912183	54912183	+	Silent	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:54912183G>C	ENST00000284061.3	+	2	207	c.27G>C	c.(25-27)ccG>ccC	p.P9P	DGKE_ENST00000572810.1_Silent_p.P9P|DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	9					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGCCGGCGCCGGGCTCGCCCT	0.652000													114	408					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2910422	2910422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2910422C>T	ENST00000001008.4	+	9	1359	c.1172C>T	c.(1171-1173)aCc>aTc	p.T391I	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	391	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCCGCCAAGACCCAGCTGGCT	0.592000													44	104					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064407	7064407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7064407G>A	ENST00000299481.4	+	4	1496	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	384	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGCAAATGGAGAAGGGTGG	0.468000													47	84					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255324	21255324	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21255324G>A	ENST00000233242.1	-	10	1381	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	APOB_ENST00000399256.4_Silent_p.I418I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	418	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGGCTCGGGGATCAGGGCCA	0.597000													23	64					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225237	49225237	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49225237C>T	ENST00000327979.2	-	10	1122	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FAM65C_ENST00000535356.1_Silent_p.K241K|FAM65C_ENST00000045083.2_Silent_p.K237K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	237										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						CGATCCGACCCTTGAGCTTCC	0.642000													70	149					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111661467	111661467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111661467G>A	ENST00000286692.4	-	8	1270	c.653C>T	c.(652-654)tCc>tTc	p.S218F	DRAM2_ENST00000539140.1_Missense_Mutation_p.S218F|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	218					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						ACCAAAGAAGGAAAATGACAT	0.363000													7	32					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187500840	187500840	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187500840C>T	ENST00000261023.3	+	7	937	c.663C>T	c.(661-663)atC>atT	p.I221I	ITGAV_ENST00000433736.2_Silent_p.I175I|ITGAV_ENST00000374907.3_Silent_p.I185I	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	221					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGGCAGAAATCGTATCTAAAT	0.343000													19	52					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54101548	54101548	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:54101548G>A	ENST00000404125.1	-	43	5083	c.5028C>T	c.(5026-5028)ttC>ttT	p.F1676F	PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Silent_p.F820F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTGTTTAGGAAAATAAAGA	0.373000													33	50					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757208	71757208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:71757208G>A	ENST00000318442.5	-	2	606	c.116C>T	c.(115-117)cCc>cTc	p.P39L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGTCTTTGGGGAGCCTTTCC	0.572000													18	17					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291539	141291539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:141291539G>A	ENST00000247452.3	-	3	582	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	79						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCGGTAAGATTTGGTATC	0.512000										HNSCC(46;0.14)			26	13					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369651	139369651	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139369651T>A	ENST00000313050.7	-	1	2490	c.2417A>T	c.(2416-2418)cAg>cTg	p.Q806L	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q628L|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q628L|SEC16A_ENST00000371706.3_Missense_Mutation_p.Q628L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	628					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAACTCGCCTGGGACTGAAG	0.547000													17	11					0	0	1	0	0
DNAJC9	23234	broad.mit.edu	37	10	75005793	75005793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75005793C>T	ENST00000372950.4	-	3	2135	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	155					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CTGGGTTCCTCTGTGTACTGC	0.463000													30	47					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529181	57529181	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57529181C>T	ENST00000420713.1	+	4	1126	c.1014C>T	c.(1012-1014)acC>acT	p.T338T		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TATCCTCAACCCTTAAGAAAC	0.398000													7	41					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224495718	224495718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:224495718G>A	ENST00000281701.6	-	6	849	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P91L|NVL_ENST00000391875.2_Missense_Mutation_p.P91L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	197						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TGGCTTCTTAGGATTACTTTT	0.348000													17	66					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095836	83095836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:83095836G>A	ENST00000307792.3	-	4	885	c.418C>T	c.(418-420)Cca>Tca	p.P140S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P80S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	140	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.P140S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCACAAACTGGATCAAAAGCT	0.388000													26	69					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966182	87966182	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:87966182G>C	ENST00000369577.3	+	8	2878	c.2835G>C	c.(2833-2835)caG>caC	p.Q945H	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q940H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTCAATCAGGGGATTGAGG	0.433000													40	50					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942874	112942874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:112942874C>T	ENST00000331203.2	+	7	1176	c.905C>T	c.(904-906)cCc>cTc	p.P302L	FBLN7_ENST00000409903.1_Missense_Mutation_p.P302L|FBLN7_ENST00000409450.3_Missense_Mutation_p.P256L|FBLN7_ENST00000409667.3_Missense_Mutation_p.P168L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	302	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGAGTGCCCCGAGGGCAGC	0.617000													20	66					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515762	149515762	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:149515762C>T	ENST00000378016.2	+	0	11663							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)			CCATGGTCCTCCTGGTCCCCC	0.682000													6	33					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14789050	14789050	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14789050C>T	ENST00000380881.4	-	24	4862	c.4047G>A	c.(4045-4047)ctG>ctA	p.L1349L	FREM1_ENST00000422223.2_Silent_p.L1348L|FREM1_ENST00000380880.3_Silent_p.L1348L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1348					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)		TCAGCAAGTTCAGATCCACTT	0.517000													10	11					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035850	110035850	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110035850C>T	ENST00000453089.2	+	5	2828	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	ZC3H12C_ENST00000278590.3_Silent_p.F680F|ZC3H12C_ENST00000528673.1_Silent_p.F681F			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	680							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCAGAATTTCCACGACCCCT	0.547000													56	188					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3585257	3585257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3585257C>T	ENST00000550383.1	-	10	1185	c.997G>A	c.(997-999)Gac>Aac	p.D333N	P2RX5_ENST00000551178.1_Missense_Mutation_p.D308N|P2RX5_ENST00000435558.1_Missense_Mutation_p.D333N|P2RX5_ENST00000225328.5_Missense_Mutation_p.D333N|P2RX5_ENST00000345901.3_Missense_Mutation_p.D309N|P2RX5_ENST00000552050.1_Missense_Mutation_p.D273N|P2RX5_ENST00000552276.1_Missense_Mutation_p.D332N|P2RX5_ENST00000547178.1_Missense_Mutation_p.D332N																							AGTACCAGGTCGCAGAAGAAA	0.522000													17	9					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228391	111228391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111228391C>T	ENST00000393067.3	-	4	749	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	79					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGCCTCCTCTGTCACTGCA	0.612000			T	BCL6	NHL								6	18					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114384269	114384269	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:114384269G>A	ENST00000545145.2	-	12	1497	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	RBM19_ENST00000261741.5_Silent_p.L473L|RBM19_ENST00000392561.3_Silent_p.L473L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	473	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTAACACGTGGAGCATCCTGC	0.557000													16	51					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600191	56600191	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56600191G>C	ENST00000270459.3	-	3	468	c.350C>G	c.(349-351)aCg>aGg	p.T117R		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTCTCGCCCGTGTGGATGCG	0.682000													9	12					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55984567	55984567	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:55984567C>T	ENST00000288221.6	-	13	2544	c.2289G>A	c.(2287-2289)aaG>aaA	p.K763K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	763						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCACCTTCTTATTCTGAT	0.408000													26	51					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604304	3604304	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3604304C>T	ENST00000301749.7	-	0	2611				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_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													4	40					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97093801	97093801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:97093801C>T	ENST00000524981.3	+	13	1757	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F				Q6ZTY8	CL063_HUMAN		560										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						TATGAGATATCCCAAATTTTC	0.318000													33	58					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848304	54848304	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54848304G>A	ENST00000291759.4	-	6	1119	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	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	355	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)		TCCTTGGTCAGAAGGAAAGTG	0.587000													56	99					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785891	130785891	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:130785891C>T	ENST00000325390.3	-	0	2976					NR_026758.1																						CCTGGGTTTCCTTCCAGTGAG	0.498000													13	16					0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13773846	13773846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13773846C>T	ENST00000463598.1	+	4	387	c.368C>T	c.(367-369)tCc>tTc	p.S123F	NDUFAF5_ENST00000378106.5_Silent_p.F116F|NDUFAF5_ENST00000475968.1_3'UTR	NM_001039375.2	NP_001034464.1	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	129					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAAAGTTTTTCCAAGCTGACA	0.313000													27	88					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634289	84634289	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:84634289C>T	ENST00000262753.4	-	2	316	c.171G>A	c.(169-171)ggG>ggA	p.G57G	POF1B_ENST00000373145.3_Silent_p.G57G	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	57							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTTCATGGGCCCACTGTAGG	0.542000													18	7					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311422	124311422	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124311422G>A	ENST00000409039.3	+	24	4039	c.4014G>A	c.(4012-4014)ttG>ttA	p.L1338L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTTGACTTGAAAAACGAGG	0.423000													11	16					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499431	51499431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51499431G>A	ENST00000600767.1	-	7	1156	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	KLK8_ENST00000391806.2_Nonsense_Mutation_p.Q268*|KLK8_ENST00000347619.4_Nonsense_Mutation_p.Q82*|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Nonsense_Mutation_p.Q223*|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	223	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGATGCCCTGGAGTGCACCA	0.562000													18	89					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428058	121428058	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:121428058C>T	ENST00000260197.7	+	19	2736	c.2607C>T	c.(2605-2607)atC>atT	p.I869I		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	869					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)		GACTCACAATCGTCAATTCCT	0.522000													31	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179584835G>A	ENST00000589042.1	-	81	23758	c.23534C>T	c.(23533-23535)tCa>tTa	p.S7845L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6601L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7528L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7528	Ig-like 60.						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)			ATCAATGAATGAAATCCTGGT	0.428000													22	70					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47741550	47741550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47741550G>A	ENST00000263773.5	-	16	2906	c.2894C>T	c.(2893-2895)tCc>tTc	p.S965F		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	965										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTCTTCACTGGAACTAGAATT	0.433000													15	27					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096113	178096113	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:178096113G>A	ENST00000397062.3	-	5	1772	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	NFE2L2_ENST00000464747.1_Silent_p.P390P|NFE2L2_ENST00000446151.2_Silent_p.P383P|NFE2L2_ENST00000397063.4_Silent_p.P390P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	406					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATGGTGACAAGGGTTGTACCA	0.483000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			37	95					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48234384	48234384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:48234384C>T	ENST00000394747.1	-	14	2234	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	ABCC11_ENST00000394748.1_Missense_Mutation_p.E629K|ABCC11_ENST00000356608.2_Missense_Mutation_p.E629K|ABCC11_ENST00000353782.5_Missense_Mutation_p.E629K|ABCC11_ENST00000537808.1_Missense_Mutation_p.E629K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	629	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGGCCCCGCTCTCCAATCTGC	0.597000													11	31					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321508	79321508	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79321508G>A	ENST00000428286.1	-	8	5805	c.4605C>T	c.(4603-4605)ccC>ccT	p.P1535P	PRUNE2_ENST00000376718.3_Silent_p.P1894P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1894					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCCAGAAAGGGTGACTGAT	0.473000													17	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418695	179418695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179418695C>T	ENST00000589042.1	-	333	89367	c.89143G>A	c.(89143-89145)Gga>Aga	p.G29715R	TTN_ENST00000460472.2_Missense_Mutation_p.G20650R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27147R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20775R|TTN_ENST00000591111.1_Missense_Mutation_p.G28074R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20842R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28074	Fibronectin type-III 116.						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)			GGACCCTGTCCAGCAGCGTTT	0.413000													11	23					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105001602	105001602	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:105001602G>T	ENST00000507740.1	+	14	2609	c.2373G>T	c.(2371-2373)atG>atT	p.M791I	RIMS2_ENST00000436393.2_Missense_Mutation_p.M777I|RIMS2_ENST00000406091.3_Missense_Mutation_p.M999I|RIMS2_ENST00000262231.10_Missense_Mutation_p.M838I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1061					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAGCCGAATGGACAGACATC	0.373000										HNSCC(12;0.0054)			53	126					1.3268e-25	1.35692e-25	1	1	0
IRF7	3665	broad.mit.edu	37	11	613081	613081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:613081G>A	ENST00000397566.1	-	8	1722	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	IRF7_ENST00000330243.5_Missense_Mutation_p.S438F|IRF7_ENST00000397562.3_Missense_Mutation_p.S132F|IRF7_ENST00000348655.6_Missense_Mutation_p.S396F|IRF7_ENST00000397574.2_Missense_Mutation_p.S425F|IRF7_ENST00000525445.1_Missense_Mutation_p.S319F|IRF7_ENST00000397570.1_Missense_Mutation_p.S396F	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	425					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATAGCGTGGGGAGCCACGGCG	0.632000													4	19					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37889885	37889885	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:37889885G>T	ENST00000199447.4	+	3	389	c.17G>T	c.(16-18)cGa>cTa	p.R6L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R6L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	6	Thioredoxin.				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										AGCAAAAAACGAGAAGTCCAG	0.338000													45	122					7.77372e-23	7.93692e-23	1	1	0
GABRR3	200959	broad.mit.edu	37	3	97727839	97727839	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97727839G>A	ENST00000472788.1	-	0	575					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GTGTCAAGAGGAAACCTGCTG	0.398000													4	11					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173702865	173702865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:173702865C>T	ENST00000209884.4	+	3	173	c.37C>T	c.(37-39)Cga>Tga	p.R13*	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	13					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.R13R(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TACCAACATTCGACCAGGAGA	0.473000													64	71					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537024	2537024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:2537024G>C	ENST00000288709.6	-	9	1002	c.762C>G	c.(760-762)taC>taG	p.Y254*	MMEL1_ENST00000378412.3_Nonsense_Mutation_p.Y263*|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	263					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTGAAGTAGTACTCTCGGG	0.652000													31	64					0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478945	33478945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:33478945C>T	ENST00000373449.2	-	6	598	c.557G>A	c.(556-558)cGc>cAc	p.R186H	AK2_ENST00000480134.1_3'UTR|AK2_ENST00000548033.1_Missense_Mutation_p.R144H|AK2_ENST00000467905.1_Missense_Mutation_p.R186H|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Missense_Mutation_p.R186H	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	186					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGCTTGCAGGCGGATTTTCAA	0.532000													21	34					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3141658	3141658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:3141658G>A	ENST00000263650.7	-	6	758	c.599C>T	c.(598-600)gCc>gTc	p.A200V	OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	200	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CACCTTCACGGCCCAGACGGA	0.652000													9	7					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028043	38028043	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:38028043C>T	ENST00000406772.1	+	16	2002	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	GGA1_ENST00000381756.5_Silent_p.F540F|GGA1_ENST00000325180.8_Silent_p.F436F|GGA1_ENST00000337437.4_Silent_p.F490F|GGA1_ENST00000343632.4_Silent_p.F523F	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	523	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCACGGCTTCCGCATCCTCT	0.652000													46	60					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8522054	8522054	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:8522054G>A	ENST00000262648.3	-	9	1442	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	431	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGGGAGCTCCGACTTCCAGCG	0.413000													29	7					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451632	110451632	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110451632T>A	ENST00000260283.4	-	16	2322	c.2038A>T	c.(2038-2040)Atg>Ttg	p.M680L	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.M223L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M657L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M654L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M654L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M644L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M644L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	680					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGTGTGCACATGGCAGATGGG	0.532000													16	37					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507376	51507376	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:51507376C>T	ENST00000396402.1	-	8	1065	c.912G>A	c.(910-912)ctG>ctA	p.L304L	CYP19A1_ENST00000260433.2_Silent_p.L304L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Silent_p.L304L|CYP19A1_ENST00000396404.4_Silent_p.L304L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	304					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)	GAGCTGCGATCAGCATTTCCA	0.398000													35	68					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585089	44585089	+	Silent	SNP	C	C	A	rs149519388		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:44585089C>A	ENST00000422871.1	+	6	767	c.343C>A	c.(343-345)Cgg>Agg	p.R115R	PARVG_ENST00000415224.1_Silent_p.R115R|PARVG_ENST00000444313.2_Silent_p.R115R	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	115	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGCCGTGAACCGGAGTCTGCA	0.647000													3	79					1	1	1	1	0
ALS2	57679	broad.mit.edu	37	2	202622465	202622465	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:202622465T>C	ENST00000264276.6	-	5	1503	c.1131A>G	c.(1129-1131)gcA>gcG	p.A377A		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	377					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GATTAGGAATTGCTTCTTCTA	0.398000													23	47					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989577	73989577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:73989577C>T	ENST00000553558.1	-	3	601	c.280G>A	c.(280-282)Gac>Aac	p.D94N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D94N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D47N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TAGAGGTGGTCAAAGCTGTAC	0.512000													26	31					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516330	140516330	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140516330C>T	ENST00000231134.5	+	1	1531	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		438	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATAACGGTCCTGGTCTCCG	0.577000													91	85					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729253	51729253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51729253G>A	ENST00000436584.2	+	2	287	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CD33_ENST00000262262.4_Missense_Mutation_p.D205N|CD33_ENST00000391796.3_Missense_Mutation_p.D205N|CD33_ENST00000421133.2_Missense_Mutation_p.D78N			P20138	CD33_HUMAN	CD33 molecule	205	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)	ACGGCCCCAGGACCACGGCAC	0.617000													26	39					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171259384	171259384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171259384G>A	ENST00000334231.6	+	19	2183	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G719E|MYO3B_ENST00000409044.3_Missense_Mutation_p.G719E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	719	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGAATGTGGGGATCTTGGAT	0.418000													31	89					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214709	37214709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:37214709G>A	ENST00000537425.1	+	2	218	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	54					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTGGATTGGGAGCCCTGGA	0.582000													6	16					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46832788	46832788	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46832788G>A	ENST00000283296.7	-	14	2269	c.1981C>T	c.(1981-1983)Ctg>Ttg	p.L661L	GPR116_ENST00000265417.7_Silent_p.L661L|GPR116_ENST00000362015.4_Silent_p.L661L|GPR116_ENST00000545669.1_Silent_p.L90L|GPR116_ENST00000456426.2_Silent_p.L519L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	661					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)			CCAGGAACCAGATTCAGCTTC	0.383000													39	64					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000541354.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358000													17	67					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180849	19180849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19180849G>A	ENST00000375371.3	-	3	1136	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	372					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)	GGTGTTGAAGGACAAGGTGGC	0.632000													14	19					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099353	40099353	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:40099353G>A	ENST00000299092.3	-	3	474	c.276C>T	c.(274-276)gtC>gtT	p.V92V	GPR176_ENST00000561100.1_Silent_p.V93V|GPR176_ENST00000543580.1_Silent_p.V48V|GPR176_ENST00000560729.1_5'UTR	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	93					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGGCACACAGACCAGGCTGG	0.493000													86	162					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672529	117672529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117672529C>T	ENST00000317775.6	-	21	3761	c.3076G>A	c.(3076-3078)Ggg>Agg	p.G1026R	NOS1_ENST00000338101.4_Missense_Mutation_p.G1060R|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)	1026	FAD-binding FR-type.				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)	TCCTGGCTCCCGTTGGTGTGG	0.577000													15	29					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251088	19251088	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:19251088T>C	ENST00000527884.1	-	10	2038	c.1806A>G	c.(1804-1806)agA>agG	p.R602R	E2F8_ENST00000250024.4_Silent_p.R602R|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	602					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTTGAGCCTCTTTCTCCAG	0.522000													51	87					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451633	110451633	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110451633G>A	ENST00000260283.4	-	16	2321	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	ARHGAP20_ENST00000529591.1_Silent_p.A222A|ARHGAP20_ENST00000524756.1_Silent_p.A656A|ARHGAP20_ENST00000533353.1_Silent_p.A653A|ARHGAP20_ENST00000357139.3_Silent_p.A653A|ARHGAP20_ENST00000527598.1_Silent_p.A643A|ARHGAP20_ENST00000528829.1_Silent_p.A643A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	679					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTGTGCACATGGCAGATGGGG	0.527000													16	36					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49912525	49912525	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49912525C>T	ENST00000447857.3	+	14	1336	c.1131C>T	c.(1129-1131)atC>atT	p.I377I		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	377						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCTTGGAGATCGAGGCCATTC	0.597000													13	16					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628557	172628557	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:172628557G>A	ENST00000367721.2	+	1	400	c.216G>A	c.(214-216)aaG>aaA	p.K72K	FASLG_ENST00000340030.3_Silent_p.K72K	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	72					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						caccCCTGAAGAAGAGAGGGA	0.617000													7	13					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406959	105406959	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105406959A>G	ENST00000333244.5	-	7	14948	c.14829T>C	c.(14827-14829)gaT>gaC	p.D4943D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4943						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTGGTCAGCATCTTCAGAAG	0.552000													5	25					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008009	6008009	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6008009A>T	ENST00000332249.4	-	1	206	c.152T>A	c.(151-153)aTc>aAc	p.I51N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGTAAAGGATGCCCAGGGG	0.493000													4	26					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49028019	49028019	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49028019C>T	ENST00000343546.4	+	1	698	c.330C>T	c.(328-330)ccC>ccT	p.P110P	P4HTM_ENST00000383729.4_Silent_p.P110P	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	110						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTTAGGTCCCCTCACCCGGC	0.726000													8	10					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142593624	142593624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:142593624C>T	ENST00000378004.3	+	22	2517	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	ARHGAP26_ENST00000486650.1_3'UTR|ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S776L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	776					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S776L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAACTTTCGTTCACAGCA	0.483000													6	10					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57292291	57292291	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:57292291C>T	ENST00000543872.2	+	5	3168	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	CTD-2510F5.6_ENST00000577660.1_Silent_p.F87F|SMG8_ENST00000300917.5_Silent_p.F968F			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	968					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GACCTTGTTTCCCCCCTAAGG	0.443000													66	82					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876915	74876915	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:74876915C>T	ENST00000289575.5	+	4	764	c.369C>T	c.(367-369)atC>atT	p.I123I	SLCO2B1_ENST00000454962.2_Silent_p.I7I|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.I7I|SLCO2B1_ENST00000428359.2_Silent_p.I101I|SLCO2B1_ENST00000341411.4_Silent_p.I7I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	123					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)	ATGGGGCTATCCTTGTGGCCC	0.592000													57	112					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559343	7559343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7559343C>T	ENST00000313599.3	-	5	929	c.872G>A	c.(871-873)tGg>tAg	p.W291*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W301*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W291*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	291	SRCR 3.					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						AGCATTGTTCCACTTATGGTG	0.502000													57	115					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55447703G>A	ENST00000588756.1	-	8	2712	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_ENST00000590030.1_Silent_p.I742I|NLRP7_ENST00000340844.2_Silent_p.I742I|NLRP7_ENST00000328092.5_Silent_p.I714I|NLRP7_ENST00000592784.1_Silent_p.I742I|NLRP7_ENST00000448121.2_Silent_p.I714I|NLRP7_ENST00000446217.1_Silent_p.I770I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552000													11	56					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138603675G>A	ENST00000440172.1	-	2	745	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R233W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	233						integral to membrane		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493000			O	BRAF	pilocytic astrocytoma								41	191					0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76935996	76935996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:76935996C>T	ENST00000372687.3	+	5	1050	c.965C>T	c.(964-966)tCt>tTt	p.S322F	SAMD8_ENST00000542569.1_Intron|SAMD8_ENST00000372690.3_Intron			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	0					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTTAGTGCTTCTATGCGTATT	0.448000													28	78					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321314	192321314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:192321314G>A	ENST00000417209.2	+	4	400	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	76	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATTTATTCTGAATTCATTGA	0.383000													13	46					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104139000	104139000	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104139000C>T	ENST00000388887.2	+	57	6285	c.6081C>T	c.(6079-6081)tcC>tcT	p.S2027S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2027					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						TCACGGGCTCCGGGCAGTGCC	0.587000													16	38					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226579	39226579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39226579G>A	ENST00000340369.3	-	2	4586	c.4358C>T	c.(4357-4359)tCc>tTc	p.S1453F	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S136F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1453							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTGGTGGGAACCTTCCAT	0.637000													46	85					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186122	114186122	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:114186122T>A	ENST00000297405.5	-	4	782	c.538A>T	c.(538-540)Aat>Tat	p.N180Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.N180Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.N140Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N180Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	180	Sushi 1.					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						ACACCAGGATTTCCACAAGAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	53					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57761217	57761217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57761217G>A	ENST00000360716.3	+	16	2313	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E698K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E633K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	698						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCAGGTGCTGGAGATTCTGAA	0.547000													28	107					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22424682	22424682	+	Nonsense_Mutation	SNP	T	T	G	rs148389325		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:22424682T>G	ENST00000240123.7	+	16	1682	c.1299T>G	c.(1297-1299)taT>taG	p.Y433*	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Y91*|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	433	Binds to vinculin.|SH3 1.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTGCTAATTATGTGGAGGTGA	0.562000													46	78					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474193	74474193	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74474193A>G	ENST00000394019.2	-	19	2426	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Y677H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Y677H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Y613H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Y677H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Y613H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Y677H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Y677H|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	677						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGCACTTGTAGGTAGTGATG	0.532000													104	162					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:82434923C>T	ENST00000370728.1	+	17	3218	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	LPHN2_ENST00000370717.2_Missense_Mutation_p.S858F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S858F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S783F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S858F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S858F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S845F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S858F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S845F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S858F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S845F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S845F			O95490	LPHN2_HUMAN	latrophilin 2	858					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)		ATTGTCATTTCCCTTGTTTGC	0.398000													42	121					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49139280	49139280	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49139280G>A	ENST00000306125.6	-	8	1021	c.684C>T	c.(682-684)gcC>gcT	p.A228A	QARS_ENST00000414533.1_Silent_p.A217A|QARS_ENST00000420147.2_Silent_p.A246A|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	228					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGAACTTAAGGGCCTCCCCCC	0.557000													9	26					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253737	44253737	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:44253737G>A	ENST00000371505.4	-	3	932	c.810C>T	c.(808-810)tcC>tcT	p.S270S	TCTE1_ENST00000371503.3_Silent_p.S117S|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.S117S	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	270										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGGCTGCCAAGGAGAGGCAGT	0.582000													30	57					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190431	50190431	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50190431G>A	ENST00000335999.6	-	8	1413	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	400	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGCTAAGGAAGGGGAGGGGCC	0.632000													11	20					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643249	1643249	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1643249G>A	ENST00000399682.1	-	1	119	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	25						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagccagagccacagcccc	0.687000													43	73					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128218	83128218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:83128218G>A	ENST00000329312.4	+	4	539	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	168					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATCATCACATGAAAATGAACA	0.323000													13	9					0	0	1	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475915	89475915	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:89475915C>T	ENST00000484817.1	-	0	286																											GCCACTGAATCTGTCTGGGAC	0.493000													76	148					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326740	61326740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61326740G>A	ENST00000283752.5	-	4	387	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	SERPINB3_ENST00000332821.8_Missense_Mutation_p.H82Y|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	82					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AACTGGTGATGAACATTTCCT	0.368000													40	77					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63476994	63476994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:63476994G>A	ENST00000536984.2	+	3	959	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CDH7_ENST00000323011.3_Missense_Mutation_p.E89K|CDH7_ENST00000397968.2_Missense_Mutation_p.E89K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	89	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTGTCAGGCGAAGGGGCAAG	0.443000													26	76					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154932194	154932194	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:154932194G>A	ENST00000368457.2	-	3	453	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.F57F	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	94	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACTGCCAAGGAATGGAGGGG	0.642000													21	24					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20371928	20371928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20371928C>T	ENST00000302451.4	-	11	1716	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	490					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATGTGGCTTTCCAGGAAGTCA	0.468000													44	190					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110139	48110139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48110139C>T	ENST00000422538.3	-	6	817	c.695G>A	c.(694-696)aGa>aAa	p.R232K	ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000545824.2_Missense_Mutation_p.R169K|ENDOU_ENST00000229003.3_Missense_Mutation_p.R191K|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	232					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CATGATCTCTCTGAGGAAGGC	0.577000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	65					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52343949	52343949	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:52343949G>A	ENST00000354831.7	-	1	528	c.339C>T	c.(337-339)taC>taT	p.Y113Y	NRD1_ENST00000352171.7_Silent_p.Y113Y|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	113					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCCTCACCGGTATTGCTTGG	0.592000													23	45					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74628610	74628610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:74628610C>T	ENST00000536019.1	+	5	944	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.P216S|MCU_ENST00000357157.6_Intron	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	216					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GCAGCTGGCTCCCCTGGAAAA	0.398000													7	23					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201081345	201081345	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201081345C>T	ENST00000362061.3	-	1	349	c.123G>A	c.(121-123)agG>agA	p.R41R	CACNA1S_ENST00000367338.3_Silent_p.R41R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	41					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCAGGCCTTCCTCAGGGGGT	0.602000													33	68					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114825	124114825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124114825G>A	ENST00000424014.2	-	4	468	c.260C>T	c.(259-261)tCc>tTc	p.S87F	EIF2B1_ENST00000537073.1_Missense_Mutation_p.S87F|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Missense_Mutation_p.S74F	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	87					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTTACATTTGGAGTAATCCTA	0.403000													46	92					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353722	47353722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47353722C>T	ENST00000545968.1	-	33	3769	c.3715G>A	c.(3715-3717)Gag>Aag	p.E1239K	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1239K|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1238K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1238	Ig-like C2-type 7.				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)		TTTCTAATCTCCAGAGTCAAC	0.572000													23	57					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328916	6328916	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:6328916G>A	ENST00000344545.5	+	1	568	c.321G>A	c.(319-321)agG>agA	p.R107R	TPD52L3_ENST00000314556.3_Silent_p.R107R|TPD52L3_ENST00000381428.1_Silent_p.R107R	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	107							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCATCTGCAGGAAGCTTGGAG	0.507000													39	87					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3628410	3628410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3628410G>A	ENST00000304921.5	+	7	687	c.523G>A	c.(523-525)Ggt>Agt	p.G175S	RPS7_ENST00000406376.1_Missense_Mutation_p.G175S|RPS7_ENST00000403564.1_Missense_Mutation_p.G175S	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	175					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AACTTTTTCTGGTGTCTATAA	0.323000													20	30					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020266	56020266	+	Silent	SNP	C	C	T	rs138884931		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56020266C>T	ENST00000303059.3	+	1	591	c.591C>T	c.(589-591)tcC>tcT	p.S197S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTAGCCTGTCCTTCTGTGGAT	0.433000													61	126					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487415	248487415	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248487415G>A	ENST00000317965.2	-	1	484	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTGTAGAGCCCAGGATCC	0.478000													79	184					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16641421	16641421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:16641421G>A	ENST00000546361.2	-	7	1002	c.851C>T	c.(850-852)cCa>cTa	p.P284L	CHERP_ENST00000198939.6_Missense_Mutation_p.P295L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	284	CID.|Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCCAGGGCTGGGCTCTGTAG	0.632000													16	200					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53160487	53160487	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:53160487A>T	ENST00000542638.1	-	2	458	c.11T>A	c.(10-12)tTt>tAt	p.F4Y	ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370913.5_Missense_Mutation_p.F4Y|ELOVL5_ENST00000370918.4_Missense_Mutation_p.F4Y|ELOVL5_ENST00000304434.6_Missense_Mutation_p.F4Y|ELOVL5_ENST00000541407.1_Missense_Mutation_p.F4Y			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	4					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGATGCATCAAAATGTTCCAT	0.328000													14	16					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47767641	47767641	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47767641G>A	ENST00000263773.5	-	7	1224	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	404										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCAGTTCAAGGGTATCTTGTT	0.398000													31	83					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136467052	136467052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:136467052C>T	ENST00000264160.4	+	21	2774	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	R3HDM1_ENST00000409606.1_Missense_Mutation_p.P803S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P673S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P747S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P674S	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	802							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGTACAATTTCCTCGAACCAC	0.388000													30	69					0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784770	116784770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:116784770G>A	ENST00000368605.1	+	3	945	c.850G>A	c.(850-852)Gag>Aag	p.E284K	FAM26F_ENST00000368606.3_Missense_Mutation_p.E112K|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	284						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAACAGAAAAGAGAAGACTCA	0.423000													71	136					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228437	140228437	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140228437G>A	ENST00000378122.3	+	1	1081	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V119V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGACGTGGAGG	0.577000													108	54					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657580	143657580	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143657580T>A	ENST00000392899.1	+	1	554	c.517T>A	c.(517-519)Ttt>Att	p.F173I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CAGAAACAAGTTTATTGATCA	0.507000													69	60					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671547	49671547	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:49671547G>C	ENST00000561648.1	-	4	1569	c.1516C>G	c.(1516-1518)Ccc>Gcc	p.P506A	ZNF423_ENST00000562520.1_Missense_Mutation_p.P446A|ZNF423_ENST00000535559.1_Missense_Mutation_p.P389A|ZNF423_ENST00000262383.2_Missense_Mutation_p.P506A|ZNF423_ENST00000567169.1_Missense_Mutation_p.P389A|ZNF423_ENST00000562871.1_Missense_Mutation_p.P446A|ZNF423_ENST00000563137.2_Missense_Mutation_p.P446A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	506					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)				TTGGCGTTGGGGCCGCAGTGG	0.572000													21	35					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36113938	36113938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36113938G>A	ENST00000249044.2	+	1	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	7					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGCAAACAAGGAAATTTGCAA	0.363000													17	48					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69575353	69575353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69575353G>A	ENST00000357308.4	-	11	1137	c.959C>T	c.(958-960)cCc>cTc	p.P320L	GFPT1_ENST00000361060.4_Missense_Mutation_p.P302L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	320					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGCTCGTCCGGGGTGATCTCC	0.453000													45	128					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51718542	51718542	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51718542C>T	ENST00000415259.1	+	3	1453	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TEX264_ENST00000341333.5_Silent_p.S124S|TEX264_ENST00000416589.1_Silent_p.S124S|TEX264_ENST00000457573.1_Silent_p.S124S|TEX264_ENST00000395057.1_Silent_p.S124S|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	124						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AGGTGTTCTCCTTCCCGGCAC	0.592000													30	48					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450892	55450892	+	Missense_Mutation	SNP	C	C	T	rs148981739	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55450892C>T	ENST00000588756.1	-	6	1781	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	NLRP7_ENST00000590030.1_Missense_Mutation_p.R432Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.R432Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.R432Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.R432Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.R432Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.R460Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	432	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGGTCCTCTCGGTGGAACAC	0.687000													25	32					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43784950	43784950	+	Silent	SNP	G	G	A	rs45475401	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43784950G>A	ENST00000372476.3	+	18	3046	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	TIE1_ENST00000433781.2_Silent_p.E634E|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	989	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCGGAGAGAACCTAGCCT	0.567000													26	65					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580234	82580234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82580234C>T	ENST00000423517.2	-	6	10007	c.9670G>A	c.(9670-9672)Gag>Aag	p.E3224K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3224K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3155	Gln-rich.				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						TTAATTTTCTCCAGTTCCAGG	0.438000													17	57					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297941	167297941	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167297941A>G	ENST00000409855.1	-	14	2248	c.2122T>C	c.(2122-2124)Ttt>Ctt	p.F708L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	708					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAGGTAAAAAGGAATACAC	0.393000													17	22					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461454	48461454	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48461454G>A	ENST00000358536.4	-	11	2510	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Silent_p.S747S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	747	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCCAGGGGAAGATATGG	0.652000													12	19					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348212	120348212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:120348212C>T	ENST00000397843.2	+	36	3675	c.3509C>T	c.(3508-3510)tCa>tTa	p.S1170L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1067L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1151L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1170					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)		CATGGCATTTCAGTCACTGGT	0.393000			T	MLL	AML								16	37					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80971341	80971341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:80971341C>T	ENST00000555265.1	-	24	3470	c.3095G>A	c.(3094-3096)gGt>gAt	p.G1032D	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.G1032D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1032						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTGTGGGAACCTTCCAGAAA	0.433000													14	17					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126090297	126090297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:126090297C>T	ENST00000368845.5	-	8	1104	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	OAT_ENST00000539214.1_Missense_Mutation_p.E200K	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	338					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GTCTTTACCTCAAGGGCTGCG	0.448000													10	31					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333254	227333254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:227333254G>A	ENST00000366769.3	-	8	2370	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P360L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P360L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P360L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P360L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P360L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P360L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	360	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACTAACTTCTGGAATATAAGG	0.358000													46	61					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825618	52825618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:52825618C>T	ENST00000375511.3	-	2	881	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	43										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGATGTTTTCATCTTTTTCA	0.398000													39	11					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169611810	169611810	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169611810C>T	ENST00000335742.7	+	7	1603	c.246C>T	c.(244-246)gtC>gtT	p.V82V	PALLD_ENST00000512127.1_Silent_p.V82V|PALLD_ENST00000505667.1_Silent_p.V464V|PALLD_ENST00000261509.6_Silent_p.V464V|PALLD_ENST00000333488.4_Silent_p.V341V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	464					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGTGCCGGGTCCGTGGGGCAC	0.527000									Pancreatic Cancer, Familial Clustering of				54	84					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777747	43777747	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43777747G>A	ENST00000372476.3	+	11	1654	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	TIE1_ENST00000433781.2_Silent_p.G170G	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	525	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCGGCCAGGGGAAGGAGGAG	0.602000													33	61					0	0	1	0	0
EIF2B3	8891	broad.mit.edu	37	1	45316635	45316635	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:45316635G>A	ENST00000360403.2	-	12	1473	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L		NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	449					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGATCTCCATGAGCTGGTCAT	0.453000													35	97					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6480023	6480023	+	Silent	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6480023C>G	ENST00000381480.2	-	2	169	c.57G>C	c.(55-57)gcG>gcC	p.A19A	DENND1C_ENST00000543576.1_Intron|DENND1C_ENST00000591030.1_Intron	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	19						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CAGGGCAGGCCGCTTCGAAGA	0.617000													8	5					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852230	97852230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97852230C>T	ENST00000354565.2	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	230			S -> T (in dbSNP:rs9849637).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAAAAGAAATCTGATAAAGGT	0.378000													26	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463871	25463871	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25463871G>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TTTGGAAAAGGATGCTGGGAT	0.522000													85	181					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66785211	66785211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66785211G>A	ENST00000258198.2	-	2	352	c.146C>T	c.(145-147)tCc>tTc	p.S49F	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.S49F|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.S49F|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.S49F	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	49					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CGGCAGCTTGGACCTGGCGCG	0.721000													29	41					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616153	8616153	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8616153G>T	ENST00000429646.2	+	7	3048	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CPZ_ENST00000360986.4_Missense_Mutation_p.K477N|CPZ_ENST00000382480.2_Missense_Mutation_p.K340N|CPZ_ENST00000315782.6_Missense_Mutation_p.K466N			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	477	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTGTGTGAAGTTCCCCCCCG	0.572000													12	68					2.29192e-23	2.34081e-23	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64582641	64582641	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:64582641G>A	ENST00000498707.1	-	27	4386	c.4044C>T	c.(4042-4044)tcC>tcT	p.S1348S	ADAMTS9_ENST00000295903.4_Silent_p.S1320S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1348	TSP type-1 9.				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)		CACGCCGCTGGGATCCGCCAG	0.493000													46	97					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404654	53404654	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:53404654C>T	ENST00000565421.1	-	0	387																											ATCATCTTTTCGTTCCTCTTC	0.333000													4	10					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38802817	38802817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38802817G>A	ENST00000449082.2	-	6	748	c.749C>T	c.(748-750)aCc>aTc	p.T250I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	250					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)	GGTGAGGATGGTCACATCAGC	0.498000													16	47					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447424	73447424	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73447424C>T	ENST00000224721.6	+	18	2027	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	CDH23_ENST00000299366.7_Silent_p.P714P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	669	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAACCCTCCCACCTTCAGCA	0.612000													16	43					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1496882	1496882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:1496882G>A	ENST00000421627.2	+	2	157	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	87					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCCGGAAGTCGGACCCAGCCG	0.697000													16	8					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188172	7188172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:7188172G>A	ENST00000486284.1	+	2	827	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GRM7_ENST00000402647.2_Missense_Mutation_p.E185K|GRM7_ENST00000403881.1_Missense_Mutation_p.E185K|GRM7_ENST00000389336.4_Missense_Mutation_p.E185K|GRM7_ENST00000357716.4_Missense_Mutation_p.E185K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	185					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.E185*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACGGCACCCGAGCTAAGTGA	0.512000													63	99					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011056	5011056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5011056C>T	ENST00000380390.1	+	3	494	c.278C>T	c.(277-279)tCg>tTg	p.S93L	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.S93L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	93					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTCCATCTCGCCAGGAAGA	0.517000													21	39					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748356	139748356	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139748356C>T	ENST00000445819.1	+	5	632	c.582C>T	c.(580-582)ttC>ttT	p.F194F	MAMDC4_ENST00000317446.2_Silent_p.F194F|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	194	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGGGTGACTTCCGAGTGAGCT	0.652000													11	12					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551649	1551649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:1551649C>T	ENST00000381605.4	-	4	950	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	296	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGCTGTTTCTGTCCGGGAC	0.562000													34	95					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113512	34113512	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:34113512A>G	ENST00000341394.4	+	15	1803	c.1614A>G	c.(1612-1614)caA>caG	p.Q538Q	CAPRIN1_ENST00000529307.1_Silent_p.Q457Q|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Silent_p.Q538Q|CAPRIN1_ENST00000389645.3_Silent_p.Q538Q|CAPRIN1_ENST00000530820.1_Silent_p.Q538Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	538					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TAAAACAGCAAAATCAGTACC	0.373000													16	36					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57603498	57603498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57603498G>A	ENST00000243077.3	+	80	12752	c.12286G>A	c.(12286-12288)Gac>Aac	p.D4096N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4096					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCAGCATCGACGTCTTTGA	0.562000													43	47					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9517924	9517924	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9517924A>G	ENST00000396602.2	+	9	959	c.841_splice	c.e9+1	p.T280_splice	ZNF143_ENST00000299606.2_Splice_Site_p.T252_splice|ZNF143_ENST00000530463.1_Splice_Site_p.T279_splice|ZNF143_ENST00000396597.3_Splice_Site_p.T249_splice|ZNF143_ENST00000396604.1_Splice_Site_p.T279_splice	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	280					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)		CATTTGCAACAGGTAAAAGTA	0.463000													13	30					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195593	3195593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3195593A>G	ENST00000323404.1	-	1	283	c.284T>C	c.(283-285)gTt>gCt	p.V95A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCACAGGGAACTGCACGCTT	0.557000													21	10					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75104393	75104393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:75104393C>T	ENST00000290573.2	+	8	1576	c.976C>T	c.(976-978)Cca>Tca	p.P326S	HK2_ENST00000409174.1_Missense_Mutation_p.P298S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	326	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGCTCAGCCCAGAGCTTCT	0.542000													59	192					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													25	88					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332896	31332896	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:31332896G>A	ENST00000544665.3	+	16	2024	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	ITGAM_ENST00000287497.8_Silent_p.E650E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	650					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGGAGAGGTCAGAGTCT	0.507000													31	113					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220805599	220805599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220805599C>T	ENST00000402574.1	+	11	1663	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.Q334*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.Q356*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	356	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTTAATAAATCAGAAGTATGA	0.303000													46	161					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053241	50053241	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:50053241A>G	ENST00000376042.1	+	6	2370	c.2072A>G	c.(2071-2073)cAg>cGg	p.Q691R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.Q691R|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	691					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTCTTCCAGGAGGCTTTG	0.463000													3	3					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325235	6325235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:6325235C>T	ENST00000335585.5	-	9	1161	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E380K|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E373K|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E363K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E373K	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	380					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGCTGCTTTCCCTCGAGGCC	0.622000													19	28					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956829	38956829	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38956829A>T	ENST00000355481.4	+	24	3100	c.2969A>T	c.(2968-2970)aAt>aTt	p.N990I	RYR1_ENST00000360985.3_Missense_Mutation_p.N990I|RYR1_ENST00000359596.3_Missense_Mutation_p.N990I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	990	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGCAGAAAATGGGCACAAC	0.657000													23	25					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86153922	86153922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:86153922C>T	ENST00000543262.1	-	14	1920	c.1594G>A	c.(1594-1596)Ggg>Agg	p.G532R	ME3_ENST00000393324.3_Missense_Mutation_p.G532R|ME3_ENST00000359636.2_Missense_Mutation_p.G532R|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	532					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TAGAGTCTCCCCTGGGACAGA	0.532000													27	71					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27290974	27290974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:27290974C>T	ENST00000397501.1	+	16	1818	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	PTK2B_ENST00000544172.1_Missense_Mutation_p.S337F|PTK2B_ENST00000420218.2_Missense_Mutation_p.S337F|PTK2B_ENST00000517339.1_Missense_Mutation_p.S337F|PTK2B_ENST00000397497.4_Missense_Mutation_p.S83F|PTK2B_ENST00000346049.5_Missense_Mutation_p.S337F|PTK2B_ENST00000338238.4_Missense_Mutation_p.S337F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	337	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAAACCTCATCCCTAGCAGAG	0.592000													41	69					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362977	19362977	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:19362977G>A	ENST00000454498.2	-	4	1382	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CSGALNACT1_ENST00000332246.6_Silent_p.F123F|CSGALNACT1_ENST00000522854.1_Silent_p.F123F|CSGALNACT1_ENST00000544602.1_Silent_p.F123F|CSGALNACT1_ENST00000311540.4_Silent_p.F123F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	123					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCGAGTGCAGGAAGGCCAGGA	0.592000													41	83					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297848	2297848	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2297848C>T	ENST00000381458.5	+	6	867	c.804C>T	c.(802-804)gtC>gtT	p.V268V	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	268					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCAGCCCAGTCCGATATGGCC	0.582000													65	78					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170675	214170675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214170675C>T	ENST00000366958.4	+	2	1405	c.797C>T	c.(796-798)tCg>tTg	p.S266L	PROX1_ENST00000498508.2_Missense_Mutation_p.S266L|PROX1_ENST00000435016.1_Missense_Mutation_p.S266L|PROX1_ENST00000261454.4_Missense_Mutation_p.S266L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	266					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)		AGCACTGATTCGGAAAATGAT	0.527000													27	45					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485939	8485939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:8485939C>T	ENST00000381196.4	-	25	3421	c.2878G>A	c.(2878-2880)Gat>Aat	p.D960N	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D960N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.D960N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D947N|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.D938N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	960	Fibronectin type-III 7.				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)		ATGTTGATATCCCTATAAAGA	0.468000										TSP Lung(15;0.13)			42	115					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101486849	101486849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101486849C>T	ENST00000370483.5	-	4	508	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.R153Q	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	153					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ACCCCACATTCGGTGTGAGTA	0.493000													17	45					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43480185	43480185	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:43480185C>T	ENST00000532038.1	-	8	1108		c.e8-1		ARHGAP27_ENST00000532891.2_Splice_Site|ARHGAP27_ENST00000528384.1_Splice_Site|ARHGAP27_ENST00000428638.1_Splice_Site|ARHGAP27_ENST00000455881.1_Splice_Site|ARHGAP27_ENST00000442348.1_Splice_Site|ARHGAP27_ENST00000376922.2_Splice_Site|ARHGAP27_ENST00000582826.1_Splice_Site			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AAGGCTGCCTCTGTGGGAGAG	0.582000													34	101					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:47535945C>T	ENST00000602212.1	+	5	697	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.F159F			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	50					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681793	69681793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69681793C>T	ENST00000265403.7	+	1	83	c.56C>T	c.(55-57)tCt>tTt	p.S19F	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S19F	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	19					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACTTTAGCTCTGGGAGTTGT	0.428000													75	108					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125873440	125873440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125873440C>T	ENST00000393434.2	-	6	1026	c.677G>A	c.(676-678)gGg>gAg	p.G226E	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G236E|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G226E|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G226E|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G125E|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.G51E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	226					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTGTCGTTCCCGCGGATCCA	0.612000													92	104					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304717	21304717	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:21304717T>C	ENST00000259555.4	-	1	595	c.539A>G	c.(538-540)aAc>aGc	p.N180S		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	180					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCTTGCAAGTTTGCTGATAA	0.403000													123	174					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057400	9057400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9057400C>T	ENST00000397910.4	-	3	30249	c.30046G>A	c.(30046-30048)Gaa>Aaa	p.E10016K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10018	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						CTAGTTTTTTCCACAAAGAGA	0.438000													14	17					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:19995558G>A	ENST00000391403.2	-	1	2320	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000													19	31					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395022	54395022	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54395022G>A	ENST00000263431.3	+	6	906	c.624G>A	c.(622-624)acG>acA	p.T208T	PRKCG_ENST00000536044.1_Silent_p.T208T|PRKCG_ENST00000540413.1_Silent_p.T208T|PRKCG_ENST00000542049.1_Silent_p.T95T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	208	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T208T(2)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGAACCTGACGAAACAGAAGA	0.522000													21	83					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256861	25256861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:25256861C>T	ENST00000264864.6	+	3	787	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PI4K2B_ENST00000512921.1_Missense_Mutation_p.H104Y	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	200	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAACAAGCTTCATCTGAGCAT	0.423000													23	51					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													4	31					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325684	21325684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21325684C>T	ENST00000256958.2	+	3	281	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	62					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGAGATATCCTCTTCTCTT	0.313000													10	25					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905426	176905426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176905426G>A	ENST00000367654.2	-	15	2495	c.2482C>T	c.(2482-2484)Ctc>Ttc	p.L828F	ASTN1_ENST00000367657.3_Missense_Mutation_p.L820F|ASTN1_ENST00000361833.2_Missense_Mutation_p.L820F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L820F			O14525	ASTN1_HUMAN	astrotactin 1	828					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTTGGTTGAGTTTGATGTGG	0.527000													36	68					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653522	110653522	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:110653522A>T	ENST00000338081.3	-	2	519	c.348T>A	c.(346-348)tgT>tgA	p.C116*	DCX_ENST00000488120.1_Nonsense_Mutation_p.C35*|DCX_ENST00000356220.3_Nonsense_Mutation_p.C35*|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Nonsense_Mutation_p.C35*|DCX_ENST00000356915.2_Nonsense_Mutation_p.C35*	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	116					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						GGTAGAAGCTACAGTGGGCGC	0.507000													57	33					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111571730	111571730	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111571730T>C	ENST00000304987.3	+	5	772	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	200	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CAGCTGGACATCTGGGTACTG	0.468000													17	32					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134709	13134709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13134709G>A	ENST00000399002.2	+	10	1613	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	447					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGACTGCAGGAAATGGGATT	0.418000													27	58					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28605652	28605652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:28605652G>A	ENST00000253063.3	+	9	1577	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	419					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGGAGCGGAACCTCAAG	0.517000													47	63					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858082	1858082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1858082G>A	ENST00000341958.3	+	6	1083	c.781G>A	c.(781-783)Gga>Aga	p.G261R	SYT8_ENST00000381968.3_Missense_Mutation_p.G275R|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	275	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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)		CCTGCGTCCAGGACTTGCAGG	0.682000													10	18					0	0	1	0	0
ADIRF	10974	broad.mit.edu	37	10	88730308	88730308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:88730308G>A	ENST00000372013.3	+	3	553	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_006829.2	NP_006820.1			adipogenesis regulatory factor																		ACCTTCTCTGGGATTGGGAAA	0.592000													6	17					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154291	5154291	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:5154291C>T	ENST00000252321.3	+	1	1207	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	326						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCTTCTTCATCGTGGAGACCA	0.672000													50	117					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251334	25251334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:25251334G>A	ENST00000328086.7	-	7	3510	c.2707C>T	c.(2707-2709)Cga>Tga	p.R903*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	903					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGATGTTCTCGAAATCTCGTA	0.458000													5	36					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207604347	207604347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207604347C>T	ENST00000374412.3	-	11	1773	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	MDH1B_ENST00000449792.1_Missense_Mutation_p.E402K|MDH1B_ENST00000454776.2_Missense_Mutation_p.E499K	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	500					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)		TGTGGCTTTTCAAAGGTGGTT	0.343000													17	26					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41010144	41010144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41010144G>A	ENST00000399564.4	-	31	3623	c.3173C>T	c.(3172-3174)cCa>cTa	p.P1058L	MROH2B_ENST00000506092.2_Missense_Mutation_p.P613L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTGAGGACTGGCATGTGATG	0.398000													15	21					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790737	133790737	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:133790737G>A	ENST00000321016.8	-	18	3113	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F	IGSF9B_ENST00000533871.2_Silent_p.F961F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	961	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCATGGTGGAAGGGCCGGG	0.721000													5	19					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340700	220340700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220340700C>A	ENST00000358951.2	-	26	3138	c.3022G>T	c.(3022-3024)Gag>Tag	p.E1008*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1008					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACATCGAGCTCAAGGCTACAA	0.408000													11	48					0.000308642	0.000309855	1	1	0
IGHV4-59	28392	broad.mit.edu	37	14	107083416	107083416	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:107083416C>T	ENST00000455737.1	-	0	227																											CCACTCCAGTCCCTTCCCTGG	0.552000													35	63					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524907	10524907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:10524907G>A	ENST00000396560.2	+	3	657	c.430G>A	c.(430-432)Gat>Aat	p.D144N	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D144N|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.D144N|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.D144N|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCTGAAAACGATTCTGAGCA	0.438000													17	65					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057110	43057110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:43057110G>A	ENST00000316099.3	+	9	1354	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Intron	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	422					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTGGCCCCGACCCAGGGGA	0.557000													18	25					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104138999	104138999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104138999C>T	ENST00000388887.2	+	57	6284	c.6080C>T	c.(6079-6081)tCc>tTc	p.S2027F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2027					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						ATCACGGGCTCCGGGCAGTGC	0.592000													16	38					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426818	6426818	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6426818A>T	ENST00000449001.2	+	8	1371	c.877A>T	c.(877-879)Aag>Tag	p.K293*	PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.K325*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.K325*|PLEKHG6_ENST00000536531.1_Nonsense_Mutation_p.K325*	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	325	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGCTGTGCTCAAGAGGAGCCC	0.617000													22	38					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270670	129270670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:129270670G>A	ENST00000287295.3	-	11	1342	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.S19F|AIFM1_ENST00000346424.2_Missense_Mutation_p.S84F|AIFM1_ENST00000460436.2_Missense_Mutation_p.S32F|AIFM1_ENST00000319908.3_Missense_Mutation_p.S367F	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	371	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GACTCCAACGGATTGCACAAT	0.478000													48	16					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417294	89417294	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:89417294G>A	ENST00000490686.1	-	0	41																											GCTGAGCGGGGACCCTCATGT	0.547000													68	268					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198725	30198725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30198725G>A	ENST00000219150.5	+	6	964	c.659G>A	c.(658-660)gGg>gAg	p.G220E	CORO1A_ENST00000565497.1_Missense_Mutation_p.G220E|CORO1A_ENST00000570045.1_Missense_Mutation_p.G220E	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	220					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCCACGAGGGGACCCGGCCC	0.667000													30	35					0	0	1	0	0
TMEM218	219854	broad.mit.edu	37	11	124967577	124967577	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:124967577G>A	ENST00000455225.1	-	4	924	c.273C>T	c.(271-273)ttC>ttT	p.F91F	TMEM218_ENST00000529583.1_Silent_p.F91F|TMEM218_ENST00000532407.1_Silent_p.F91F|TMEM218_ENST00000279968.4_Silent_p.F91F|TMEM218_ENST00000527766.1_Silent_p.F91F|TMEM218_ENST00000532156.1_3'UTR|TMEM218_ENST00000527271.1_Silent_p.F91F|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_3'UTR|TMEM218_ENST00000531909.1_Silent_p.F91F|TMEM218_ENST00000526175.1_Silent_p.F91F|TMEM218_ENST00000528724.1_Silent_p.F117F			A2RU14	TM218_HUMAN	transmembrane protein 218	91						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GGCCTCCAAGGAAGATGGCAC	0.433000													9	17					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692581	117692581	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:117692581C>T	ENST00000223795.2	-	1	116	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	1					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCCTGGGTCCATTCTTTATA	0.562000													37	17					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236748463	236748463	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:236748463T>A	ENST00000366582.3	-	17	2217	c.2103A>T	c.(2101-2103)aaA>aaT	p.K701N	HEATR1_ENST00000366581.2_Missense_Mutation_p.K701N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	701					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAAACGTTACTTTCTGCTTCA	0.393000													35	51					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140515442C>T	ENST00000231134.5	+	1	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438000													30	33					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996156	166996156	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:166996156G>A	ENST00000061240.2	+	17	2961		c.e17+1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGCAAGGAAGGTATGGAACGG	0.398000													76	149					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122646962	122646962	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:122646962T>C	ENST00000284273.5	+	2	572	c.197T>C	c.(196-198)gTt>gCt	p.V66A		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	66	UBA.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGAAGAAGTGTTCAGGCAGCA	0.403000													12	38					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625925	20625925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20625925G>A	ENST00000525748.1	+	3	907	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	212					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTGGGGCTGGGCAATGTCTG	0.637000													46	130					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105582226	105582226	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:105582226C>T	ENST00000258530.3	-	17	1685		c.e17-1		APPL2_ENST00000539978.2_Splice_Site|APPL2_ENST00000551662.1_Splice_Site	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2						cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGAGAATCTGGAAGACAG	0.428000													15	23					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241753347	241753347	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:241753347T>A	ENST00000366559.4	+	13	1443	c.1132T>A	c.(1132-1134)Ttt>Att	p.F378I	KMO_ENST00000366557.4_Intron|KMO_ENST00000366558.3_Intron	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	378					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTGGTTCATTTTTCAGAAGAA	0.393000													32	95					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551765	1551765	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:1551765A>G	ENST00000381605.4	-	4	834	c.770T>C	c.(769-771)gTt>gCt	p.V257A	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	257	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTTGAGTAACCTCCAAGGT	0.547000													16	51					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845330	62845330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:62845330G>A	ENST00000512091.1	+	17	3398	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	LPHN3_ENST00000514996.1_Missense_Mutation_p.G884E|LPHN3_ENST00000506700.1_Missense_Mutation_p.G884E|LPHN3_ENST00000514157.1_Missense_Mutation_p.G884E|LPHN3_ENST00000514591.1_Missense_Mutation_p.G884E|LPHN3_ENST00000511324.1_Missense_Mutation_p.G952E|LPHN3_ENST00000506720.1_Missense_Mutation_p.G952E|LPHN3_ENST00000504896.1_Missense_Mutation_p.G884E|LPHN3_ENST00000506746.1_Missense_Mutation_p.G952E|LPHN3_ENST00000508693.1_Missense_Mutation_p.G952E|LPHN3_ENST00000507625.1_Missense_Mutation_p.G952E|LPHN3_ENST00000509896.1_Missense_Mutation_p.G952E|LPHN3_ENST00000508946.1_Missense_Mutation_p.G884E|LPHN3_ENST00000545650.1_Missense_Mutation_p.G884E|LPHN3_ENST00000507164.1_Missense_Mutation_p.G952E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	871					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGTGGGTTGGAATTTTGCTG	0.468000													65	208					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489449	489449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:489449C>T	ENST00000308020.5	+	9	1080	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	302						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCTGGGTTCGCTTCGAGTG	0.687000													19	30					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308609	79308609	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79308609C>T	ENST00000264895.6	+	29	4169	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	FRAS1_ENST00000325942.6_Silent_p.I1243I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1242					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCTTGACATCCGAGATGATG	0.502000													28	42					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223557	55223557	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:55223557C>T	ENST00000275493.2	+	8	1101	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EGFR_ENST00000454757.2_Silent_p.V255V|EGFR_ENST00000442591.1_Silent_p.V308V|EGFR_ENST00000455089.1_Silent_p.V263V|EGFR_ENST00000342916.3_Silent_p.V308V|EGFR_ENST00000420316.2_Silent_p.V308V|EGFR_ENST00000344576.2_Silent_p.V308V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	308					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTCGTGCGTCCGAGCCTGTG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	54					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552017	47552017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47552017G>A	ENST00000300527.4	+	28	2715	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	871	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGGGACGACGACCCTCTCAA	0.711000													3	9					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15904213	15904213	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:15904213C>T	ENST00000375826.3	-	5	1009	c.867G>A	c.(865-867)ggG>ggA	p.G289G	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	289					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	p.G289G(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGGTGTCCCTGTCCCTG	0.517000													30	69					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657079	46657079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46657079G>A	ENST00000253255.5	-	1	2140	c.2141C>T	c.(2140-2142)gCt>gTt	p.A714V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	714	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAAAACGGAAGCTACTATATA	0.393000													44	50					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308785	46308785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46308785C>T	ENST00000397850.2	-	15	2355	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	ITGB2_ENST00000397854.3_Missense_Mutation_p.E578K|ITGB2_ENST00000302347.5_Missense_Mutation_p.E635K|ITGB2_ENST00000397852.1_Missense_Mutation_p.E635K|ITGB2_ENST00000397857.1_Missense_Mutation_p.E635K|ITGB2_ENST00000355153.4_Missense_Mutation_p.E635K			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	635					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)	GGGCCCTTTTCGAACTTCAGG	0.672000													10	30					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116810933	116810933	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:116810933C>T	ENST00000265437.5	+	10	1195	c.981C>T	c.(979-981)ccC>ccT	p.P327P	ST7_ENST00000422922.1_Silent_p.P258P|ST7_ENST00000432298.1_Silent_p.P281P|ST7_ENST00000393444.3_Silent_p.P261P|ST7_ENST00000393449.1_Silent_p.P327P|ST7_ENST00000393451.3_Silent_p.P304P|ST7_ENST00000393443.1_Silent_p.P254P|ST7_ENST00000393446.2_Silent_p.P304P|ST7_ENST00000393447.4_Silent_p.P284P|ST7_ENST00000323984.3_Silent_p.P327P|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	327						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)		AGGAGTTCCCCCTTCTGAGTA	0.318000													47	51					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295436	101295436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101295436C>T	ENST00000538618.1	+	4	371	c.371C>T	c.(370-372)tCt>tTt	p.S124F	ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			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						TTAAGTTTATCTATTCATGGG	0.488000										HNSCC(74;0.22)			11	18					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36737185	36737185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:36737185C>T	ENST00000280527.2	+	9	1928	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	521	Antistasin-like 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTTCGGTTTCCTTACTGATGC	0.478000													25	89					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741400	81741400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:81741400C>T	ENST00000550584.2	-	17	2439	c.2144G>A	c.(2143-2145)aGt>aAt	p.S715N	PPFIA2_ENST00000333447.7_Missense_Mutation_p.S697N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S282N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S641N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S715N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S715N|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S697N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S715N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S562N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S616N	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	641										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						GGGAGATGAACTGGCCAGCGA	0.542000													82	181					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28854470	28854470	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28854470C>T	ENST00000313511.3	-	10	1333		c.e10-1			NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial							mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TGGCAAGCTCCTAGAGTAGGA	0.527000													12	50					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390564	158390564	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158390564G>A	ENST00000314902.2	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAGGAGCAGGAAGATAACAA	0.527000													50	82					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137498918	137498918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:137498918G>A	ENST00000254900.5	-	15	2359	c.1988C>T	c.(1987-1989)cCt>cTt	p.P663L	BRD8_ENST00000402931.1_Missense_Mutation_p.P663L|BRD8_ENST00000230901.5_Missense_Mutation_p.P736L|BRD8_ENST00000455658.2_Missense_Mutation_p.P622L|BRD8_ENST00000411594.2_Missense_Mutation_p.P666L|BRD8_ENST00000515014.1_Intron	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	663					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCGCTCACAGGAGGTTCATT	0.517000													36	42					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126080839	126080839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126080839G>A	ENST00000298317.4	-	2	354	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	RPUSD4_ENST00000533628.1_Missense_Mutation_p.H101Y|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	101					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTGTCCTGGTGGAGAATTCCT	0.567000													41	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431916	179431916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179431916C>T	ENST00000589042.1	-	326	79167	c.78943G>A	c.(78943-78945)Ggt>Agt	p.G26315S	TTN_ENST00000460472.2_Missense_Mutation_p.G17250S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23747S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17375S|TTN_ENST00000591111.1_Missense_Mutation_p.G24674S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17442S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24674							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)			TCACTGCCACCATCTTGAAGT	0.443000													41	85					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25465727	25465727	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25465727G>A	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TTGAAGCCCAGGATAGGTAAG	0.458000													68	139					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226872	43226872	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43226872C>T	ENST00000259750.4	+	11	1196	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	TTBK1_ENST00000304139.5_Silent_p.P320P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	371						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGAATGCACCCCCAATTCTGC	0.657000													28	94					0	0	1	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673403	22673403	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:22673403C>T	ENST00000390289.2	+	0	201				LL22NC03-80A10.6_ENST00000426066.1_RNA																							GAACCCTCCCCGGTATCTCCT	0.542000													43	70					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983995	97983995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97983995G>A	ENST00000383696.2	+	1	908	c.867G>A	c.(865-867)atG>atA	p.M289I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGATATGATGGAGTCTCTAT	0.403000													19	37					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012080	161012080	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161012080C>A	ENST00000447678.1	-	24	3803	c.3683G>T	c.(3682-3684)tGt>tTt	p.C1228F	LPA_ENST00000316300.5_Missense_Mutation_p.C1228F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3736	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATGGTATAACACCAAGGACT	0.468000													12	46					1.41608e-15	1.43433e-15	1	1	0
CDH15	1013	broad.mit.edu	37	16	89260232	89260232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89260232C>T	ENST00000289746.2	+	13	2127	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	688					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCGCCACTTCGCAGAGATGC	0.682000													3	14					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616156	8616156	+	Silent	SNP	C	C	T	rs145227034		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8616156C>T	ENST00000429646.2	+	7	3051	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CPZ_ENST00000360986.4_Silent_p.F478F|CPZ_ENST00000382480.2_Silent_p.F341F|CPZ_ENST00000315782.6_Silent_p.F467F			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	478	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTGAAGTTCCCCCCCGAGG	0.572000													14	67					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979602	46979602	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46979602T>C	ENST00000264318.3	-	4	1301	c.319A>G	c.(319-321)Aga>Gga	p.R107G		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	107					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTTAATCTTTTGTCAATC	0.353000													26	71					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941751	18941751	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:18941751A>T	ENST00000380534.4	-	3	584	c.305T>A	c.(304-306)cTc>cAc	p.L102H	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	102										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATACGTCGTGAGCAAATCCAT	0.478000													31	111					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11199605	11199605	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11199605A>G	ENST00000304623.8	-	11	2119	c.1930T>C	c.(1930-1932)Tta>Cta	p.L644L	CTNND2_ENST00000458100.2_Silent_p.L211L|CTNND2_ENST00000359640.2_Silent_p.L644L|CTNND2_ENST00000511377.1_Silent_p.L553L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L307L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	644					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						TTGCGGAGTAACCTCACCAGT	0.438000													17	174					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167982	64167982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:64167982C>T	ENST00000395391.1	+	4	2675	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H434Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H434Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGGAGA	0.353000													18	44					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824099	160824099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:160824099G>A	ENST00000283243.7	-	20	3061	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.P952L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	952					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						ATGTTGTTTTGGTGTATCTTT	0.378000													32	65					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650179	232650179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:232650179C>T	ENST00000366630.1	-	2	1265	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E303K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	303					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E303K(1)		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)				TTGAAAGTTTCGTGCTCACTT	0.493000													19	36					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9878064	9878064	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9878064G>A	ENST00000256190.8	-	19	2441	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	768					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGTTCTTAGGAGCTTGTTTT	0.473000													30	68					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081383	126081383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126081383G>A	ENST00000298317.4	-	1	204	c.151C>T	c.(151-153)Cga>Tga	p.R51*	RPUSD4_ENST00000533628.1_Nonsense_Mutation_p.R51*|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	51					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTCTGGGCTCGGAGCTTCTCC	0.567000													50	156					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655513	38655513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38655513C>T	ENST00000413689.1	-	6	849	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SCN5A_ENST00000425664.1_Missense_Mutation_p.R219Q|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Intron	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	219					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)	TCTGAAAGTTCGAAGAGCCGA	0.433000													3	11					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143448	21143448	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:21143448C>T	ENST00000591761.1	-	0	5130				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TTGCTTCCTCCTGAAGTCAGT	0.418000													13	8					0	0	1	0	0
TMEM243	79161	broad.mit.edu	37	7	86827293	86827293	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86827293G>A	ENST00000433078.1	-	4	639	c.198C>T	c.(196-198)gtC>gtT	p.V66V	TMEM243_ENST00000423734.1_Silent_p.V66V|TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Silent_p.V66V					transmembrane protein 243, mitochondrial																		AAGAGATGCAGACAGCAAAGA	0.373000													76	85					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39782806	39782806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:39782806G>A	ENST00000518237.1	+	9	1411	c.772G>A	c.(772-774)Gag>Aag	p.E258K	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.E258K	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	258					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AGACCCAAAGGAGTTTGCAGG	0.502000													13	24					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558273	53558273	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:53558273G>A	ENST00000371494.4	-	7	1111	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	328						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGATGCCACGGATGAAGACGA	0.632000													21	32					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509148	33509148	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:33509148C>T	ENST00000360596.2	+	11	1504	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	ACSS2_ENST00000253382.5_Silent_p.S444S|ACSS2_ENST00000336325.4_Silent_p.S381S|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	431					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCGGGCATCCTTGCAGGTGT	0.597000													41	94					0	0	1	0	0
FAM58A	92002	broad.mit.edu	37	X	152860004	152860004	+	Splice_Site	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:152860004C>G	ENST00000406277.2	-	5	526		c.e5+1		FAM58A_ENST00000370175.4_Splice_Site	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATGTACCTTGTGTGGA	0.542000													70	20					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392170	42392170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42392170G>A	ENST00000426726.3	+	5	800	c.526G>A	c.(526-528)Gga>Aga	p.G176R	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.G171R|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G176R	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	176	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AATGCTGATCGGACTGAGCGC	0.607000													27	68					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121186413	121186413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121186413C>T	ENST00000264233.5	-	24	7048	c.6920G>A	c.(6919-6921)gGa>gAa	p.G2307E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2307					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAATGGCATTCCTCTGTCTGC	0.448000								DNA polymerases (catalytic subunits)					29	38					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671416	31671416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:31671416G>A	ENST00000375483.3	+	3	413	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	138	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGCCTCGGGCGATACAGGGCA	0.622000													29	59					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122887	32122887	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32122887A>G	ENST00000422437.1	+	3	455	c.264A>G	c.(262-264)caA>caG	p.Q88Q	PPT2_ENST00000375143.2_Silent_p.Q88Q|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.Q88Q|PPT2_ENST00000361568.2_Silent_p.Q94Q|PPT2_ENST00000324816.6_Silent_p.Q88Q|PPT2_ENST00000375137.2_Silent_p.Q88Q|PPT2_ENST00000445576.2_Silent_p.Q88Q|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR																							AACAGGTGCAAGGGTTCCGAG	0.617000													23	66					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929125	51929125	+	Silent	SNP	G	G	A	rs143846209	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51929125G>A	ENST00000310914.5	-	4	461	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	133	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGGGCCTGGGACTGCAGTG	0.622000													40	99					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681690	47681690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:47681690G>T	ENST00000283303.2	+	6	967	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.E237*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.E294*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	237					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATTGTGAATGAACTCTTCAT	0.383000													36	66					9.84934e-19	1.00061e-18	1	1	0
DCDC1	341019	broad.mit.edu	37	11	31128377	31128377	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31128377T>G	ENST00000597505.1	-	11	1717	c.1718A>C	c.(1717-1719)cAa>cCa	p.Q573P	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	233					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCAAATTTTTTGCTCATTCTT	0.423000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	35					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55846191C>T	ENST00000322678.1	+	1	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000													40	63					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10157488	10157488	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:10157488G>A	ENST00000495140.1	+	0	1087																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGCTCTGGAGGAAGTTCACTC	0.537000													29	31					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21960511	21960511	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21960511T>C	ENST00000405508.1	+	7	1143	c.867T>C	c.(865-867)gcT>gcC	p.A289A	TOX4_ENST00000448790.2_Silent_p.A266A|TOX4_ENST00000262709.3_Silent_p.A289A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	289						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CACTGGCTGCTTACAAAGACA	0.363000													59	56					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620526	137620526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137620526G>A	ENST00000371817.3	+	6	1211	c.797G>A	c.(796-798)gGa>gAa	p.G266E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	266	Nonhelical 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)		TACACGGAAGGAGACGGCGAG	0.602000													82	50					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224581617	224581617	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:224581617T>C	ENST00000414423.2	-	13	2066	c.1873A>G	c.(1873-1875)Att>Gtt	p.I625V	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.I478V	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	625						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATGGATGGAATCTGTGGGTTC	0.473000													47	47					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746375	47746375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47746375C>T	ENST00000360380.3	-	13	2118	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	STIL_ENST00000243182.6_Missense_Mutation_p.M585I|STIL_ENST00000396221.2_Missense_Mutation_p.M585I|STIL_ENST00000337817.5_Missense_Mutation_p.M585I|STIL_ENST00000371877.3_Missense_Mutation_p.M585I			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	585	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTGAAGTTCCATTGGTCTTC	0.438000													52	66					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013906	7013906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:7013906C>T	ENST00000389658.3	-	23	3364	c.3271G>A	c.(3271-3273)Gac>Aac	p.D1091N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1091	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTCACAGTCACAGGGAACA	0.597000													16	11					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453304	21453304	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21453304C>T	ENST00000307378.6	-	9	1608	c.888G>A	c.(886-888)aaG>aaA	p.K296K	SLCO1A2_ENST00000537524.1_Silent_p.K164K|SLCO1A2_ENST00000458504.1_Silent_p.K164K|SLCO1A2_ENST00000452078.1_Silent_p.K296K|SLCO1A2_ENST00000390670.3_Silent_p.K294K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	296					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATATTTTTCCTTCTTGACCT	0.294000													6	23					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944110	50944110	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:50944110C>T	ENST00000216080.5	-	6	1002	c.834G>A	c.(832-834)acG>acA	p.T278T	LMF2_ENST00000474879.2_Silent_p.T303T|LMF2_ENST00000380796.3_Silent_p.T303T			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum membrane|integral to membrane		p.T278T(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGGTGGCCGTCTTCTTGC	0.642000													17	40					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122459974	122459974	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:122459974C>T	ENST00000264357.5	+	4	898	c.606C>T	c.(604-606)ttC>ttT	p.F202F	GRIA3_ENST00000371256.5_Silent_p.F202F|GRIA3_ENST00000542149.1_Silent_p.F202F|GRIA3_ENST00000371251.1_Silent_p.F202F|GRIA3_ENST00000541091.1_Silent_p.F186F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	202					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCAAGAATTCAGGCGCATCA	0.443000													43	17					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704370	46704370	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46704370T>C	ENST00000454366.1	+	4	504	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	79					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGGGGAGAAGTTCGTGGAGGT	0.557000													59	135					0	0	1	0	0
WASH4P	374677	broad.mit.edu	37	16	66966	66966	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66966G>A	ENST00000326592.9	-	5	1328	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L																								GCATCAAACAGCTTCTCCTCT	0.577000													9	51					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26586192	26586192	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26586192A>G	ENST00000252992.4	+	7	1371	c.1240A>G	c.(1240-1242)Aag>Gag	p.K414E	CEP85_ENST00000451429.2_Missense_Mutation_p.K363E	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	414						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TGACCTTGAAAAGAAACTCTC	0.443000													36	60					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871950	51871950	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:51871950G>A	ENST00000371497.5	+	2	2840	c.1953G>A	c.(1951-1953)ctG>ctA	p.L651L	TSHZ2_ENST00000329613.6_Silent_p.L648L|TSHZ2_ENST00000603338.2_Silent_p.L648L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	651					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)			TGGGTCCCCTGAAGGAGGAGG	0.582000													21	47					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786132	112786132	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:112786132C>T	ENST00000295408.4	+	19	2948	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	MERTK_ENST00000409780.1_Silent_p.I721I|MERTK_ENST00000421804.2_Silent_p.I897I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	897					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACTTGAACATCGACCCTGACT	0.542000													58	142					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327666	52327666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52327666G>A	ENST00000339223.4	+	2	844	c.665G>A	c.(664-666)gGg>gAg	p.G222E	FPR3_ENST00000595991.1_Missense_Mutation_p.G222E	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	222					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						GTCTGCTATGGGATCATCGCT	0.473000													9	20					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113576	117113576	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117113576A>T	ENST00000310357.3	-	6	2531	c.2510T>A	c.(2509-2511)aTt>aAt	p.I837N	GPRC6A_ENST00000368549.3_Missense_Mutation_p.I766N|GPRC6A_ENST00000530250.1_Missense_Mutation_p.I662N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	837					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)		CTTACAAATAATAACATAGCA	0.378000													50	75					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156957821	156957821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156957821C>T	ENST00000257527.4	-	5	479	c.401G>A	c.(400-402)gGa>gAa	p.G134E	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.G134E|ADAM19_ENST00000394020.1_Missense_Mutation_p.G136E	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	134					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTACCTAATTCCTCGGCAAGT	0.562000													31	31					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955414	141955414	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141955414G>A	ENST00000552471.1	-	2	439	c.120C>T	c.(118-120)ccC>ccT	p.P40P	PRSS58_ENST00000547058.2_Silent_p.P40P			Q8IYP2	PRS58_HUMAN	protease, serine, 58	40	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTCCAGCGCAGGGCAAGTAGT	0.483000													30	98					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711387	15711387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:15711387C>T	ENST00000396368.3	-	14	2932	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	KIAA0430_ENST00000602337.1_Missense_Mutation_p.G906E|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G551E|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G909E|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G906E|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G744E	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	908						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAACTTGTGTCCAAACCTAAA	0.408000													13	30					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37006080	37006080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37006080G>A	ENST00000523638.1	-	3	1182	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	ZNF260_ENST00000592282.1_Missense_Mutation_p.H21Y|ZNF260_ENST00000588993.1_Missense_Mutation_p.H21Y|ZNF260_ENST00000593142.1_Missense_Mutation_p.H21Y	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	21					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TCTCCAGTATGAATTTGATCA	0.353000													10	36					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17543315	17543315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:17543315G>A	ENST00000229922.2	+	11	1682	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	CAP2_ENST00000493172.1_Missense_Mutation_p.V124M|CAP2_ENST00000489374.1_Missense_Mutation_p.V272M|CAP2_ENST00000378990.2_Missense_Mutation_p.V358M|CAP2_ENST00000465994.1_Missense_Mutation_p.V320M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	384	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACTCGGCCTGGTGTTTGACAA	0.413000													78	129					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416132	86416132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86416132C>T	ENST00000361669.2	+	3	2123	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P214S|GRM3_ENST00000439827.1_Missense_Mutation_p.P342S|GRM3_ENST00000394720.2_Missense_Mutation_p.P340S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	342					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGCCTCAACCCCTACAACAA	0.607000													4	32					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39153581	39153581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:39153581G>A	ENST00000351578.6	-	3	1451	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	FYB_ENST00000515010.1_Missense_Mutation_p.P421S|FYB_ENST00000505428.1_Missense_Mutation_p.P421S|FYB_ENST00000540520.1_Missense_Mutation_p.P431S|FYB_ENST00000512982.1_Missense_Mutation_p.P421S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	421	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATGTTTCTGGGAGGTAGGCTT	0.493000													106	103					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910062	129910062	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:129910062G>T	ENST00000368654.3	-	11	2482	c.2107C>A	c.(2107-2109)Cac>Aac	p.H703N	MKI67_ENST00000368653.3_Missense_Mutation_p.H343N|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	703					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTGACTGTGAACTTCGCCC	0.443000													29	57					2.08457e-15	2.11005e-15	1	1	0
UNC79	57578	broad.mit.edu	37	14	94060035	94060035	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:94060035G>A	ENST00000553484.1	+	23	3196	c.3042G>A	c.(3040-3042)agG>agA	p.R1014R	UNC79_ENST00000555664.1_Silent_p.R1014R|UNC79_ENST00000256339.4_Silent_p.R837R|UNC79_ENST00000393151.2_Silent_p.R1014R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1014						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTGTGGAGGGTCGTCAAAT	0.473000													4	116					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116435009	116435009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:116435009G>A	ENST00000281928.3	-	15	2802	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	866					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGTGGAGTGGGAAACATCCTT	0.398000													32	67					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848394	20848394	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20848394C>T	ENST00000262715.5	-	34	5043	c.5003_splice	c.e34+1	p.S1668_splice	TEP1_ENST00000545983.1_Splice_Site_p.S6_splice|TEP1_ENST00000556935.1_Splice_Site_p.S1560_splice	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1668					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGTCTTACCTTTGCTGATT	0.517000													78	69					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921493	206921493	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:206921493G>A	ENST00000403263.1	-	4	797	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	131					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAGGTGGAGAGAGGGACATTC	0.527000													5	15					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713049	32713049	+	Missense_Mutation	SNP	G	G	A	rs147801222	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32713049G>A	ENST00000374940.3	+	2	298	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	66	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGACGAAAGAGACTGTCTG	0.468000													48	89					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	G	A	rs145163836		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39218644G>A	ENST00000333039.2	-	5	1596	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(2)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000													11	23					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855891	100855891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100855891G>A	ENST00000223127.3	-	9	1323	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	309					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGCAGAAACGGAGTAGGCTGT	0.617000													24	74					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494885	71494885	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:71494885G>T	ENST00000296755.7	+	5	6001	c.5703G>T	c.(5701-5703)gtG>gtT	p.V1901V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1901						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)		CCTCAGATGTGGGTGGCTATT	0.453000													3	49					1	1	1	1	0
CYB5R3	1727	broad.mit.edu	37	22	43032820	43032820	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:43032820G>A	ENST00000361740.4	-	2	152	c.153C>T	c.(151-153)ttC>ttT	p.F51F	CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000352397.5_Silent_p.F18F|CYB5R3_ENST00000407332.1_5'UTR	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	18	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GACTGTACAGGAACCAGACTG	0.617000													17	35					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634131	121634131	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121634131T>C	ENST00000489711.1	+	6	974	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L	SLC15A2_ENST00000295605.2_Silent_p.L165L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	196					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGCAGGGAGCTTGATTTCTAC	0.453000													28	69					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540123	111540123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:111540123C>T	ENST00000261486.5	-	15	1601	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	442						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R442Q(1)|p.R69Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGAGGGGTTTCGGCGACGCGT	0.478000													19	158					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72421435	72421435	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:72421435G>A	ENST00000359373.5	-	10	2262	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	ARAP1_ENST00000455638.2_Silent_p.L471L|ARAP1_ENST00000334211.8_Silent_p.L226L|ARAP1_ENST00000393609.3_Silent_p.L471L|ARAP1_ENST00000426523.1_Silent_p.L226L|ARAP1_ENST00000393605.3_Silent_p.L231L|ARAP1_ENST00000429686.1_Silent_p.L226L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	471	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGCACCTCTAGATTCTTGTAG	0.592000													48	120					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979084	102979084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102979084C>T	ENST00000372617.4	-	4	836	c.416G>A	c.(415-417)gGg>gAg	p.G139E		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	139						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAGTTGGCCCCTTTCTCATT	0.527000													114	42					0	0	1	0	0
SPATA6L	55064	broad.mit.edu	37	9	4635350	4635350	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:4635350G>A	ENST00000454239.2	-	5	521	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.F106F|SPATA6L_ENST00000381895.5_5'UTR			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	47																	TGGGCTCTGGGAAAAGAAAAT	0.463000													10	32					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903440	5903440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5903440C>T	ENST00000378961.4	+	4	854	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	217						extracellular region	hormone activity	p.S217L(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGGCCAGATCGGAAACACAT	0.498000													16	29					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373290	118373290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118373290C>T	ENST00000534358.1	+	27	6706	c.6683C>T	c.(6682-6684)tCc>tTc	p.S2228F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2225F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2187F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AATAATGTTTCCTCAGTCTCC	0.468000													22	24					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56413429	56413429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56413429G>A	ENST00000588751.1	-	9	2785	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C	NLRP13_ENST00000342929.3_Missense_Mutation_p.R921C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	921							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCATCTGGGCGACCCAAGGCC	0.547000													25	40					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53085020	53085020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:53085020C>T	ENST00000276480.7	-	10	1084	c.401G>A	c.(400-402)gGg>gAg	p.G134E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCAAATTTCCCCAAGTGCAT	0.388000													25	50					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315350	22315350	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:22315350G>A	ENST00000390434.3	+	0	513																											TCCACCTGACGAAACCCTCAG	0.512000													7	41					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6519550	6519550	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6519550C>T	ENST00000254579.6	+	3	669	c.105C>T	c.(103-105)ccC>ccT	p.P35P	DNHD1_ENST00000527990.2_Silent_p.P35P|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Silent_p.P35P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	35					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAGAACAGCCCTTGGCCTGCC	0.532000													57	207					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656403	51656403	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51656403C>T	ENST00000317643.6	+	7	1374	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000600577.1_3'UTR|SIGLEC7_ENST00000305628.7_Silent_p.I342I	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	435					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AAAGAGAGATCCAGTATGCAC	0.537000													69	77					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891662	70891662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70891662C>T	ENST00000393567.2	-	72	12391	c.12241G>A	c.(12241-12243)Gaa>Aaa	p.E4081K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4081										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGAGGTTCGGTAGTTTTG	0.483000													19	84					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671250	7671250	+	Silent	SNP	C	C	T	rs147333435	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:7671250C>T	ENST00000572933.1	+	23	5168	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I	DNAH2_ENST00000389173.2_Silent_p.I1236I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1236	Stem (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)				TCTGGGAGATCGCACGAGACT	0.612000													28	18					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560283	33560283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33560283G>A	ENST00000228567.3	-	3	814	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTTCGGAAGGAACTGTGGCT	0.438000													40	79					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114498132	114498132	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:114498132G>A	ENST00000375353.3	+	4	291	c.264G>A	c.(262-264)gcG>gcA	p.A88A		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TGGTGGCAGCGATCGTGTTTA	0.542000													30	25					0	0	1	0	0
PGM5P2	595135	broad.mit.edu	37	9	69112874	69112874	+	RNA	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:69112874C>A	ENST00000591037.1	-	0	1177					NR_002836.2																						ATACTCCTCCCAAACCCGCGG	0.517000													22	44					9.80776e-20	9.98703e-20	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3483043	3483043	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3483043C>T	ENST00000324266.5	+	12	2214	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	TRAPPC12_ENST00000382110.2_Silent_p.S673S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	673							binding										TCAAGGACTCCCTGCGGCAGC	0.622000													40	73					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230450637	230450637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:230450637G>A	ENST00000341772.4	-	4	918	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	262					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)		CCTGAAGCCTGAAGGGGGGTC	0.522000													26	67					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180769	142180769	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142180769C>T	ENST00000390368.2	-	0	155																											TCTTCAGGACCTGGAATTTTG	0.547000													11	356					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569212	127569212	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:127569212C>T	ENST00000304916.3	-	2	878	c.423G>A	c.(421-423)caG>caA	p.Q141Q	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	141						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GGTGCACCACCTGGAAGTTAC	0.622000													32	33					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72786608	72786608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:72786608G>A	ENST00000272427.6	-	8	1019	c.889C>T	c.(889-891)Cga>Tga	p.R297*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.R297*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	297					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGTAGACATCGATAAACTGGA	0.368000													9	22					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885003	29885003	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:29885003G>A	ENST00000310624.6	+	4	1407	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	458	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						TGATTGTGGAGGAACAGACAG	0.483000													14	31					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24515548	24515548	+	Silent	SNP	G	G	A	rs144331024		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24515548G>A	ENST00000398319.2	+	28	4900	c.4515G>A	c.(4513-4515)cgG>cgA	p.R1505R	CABIN1_ENST00000263119.5_Silent_p.R1505R|CABIN1_ENST00000405822.2_Silent_p.R1426R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1505					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAGCAGCGGCAGTTTCTCA	0.637000													72	92					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884415	151884415	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:151884415T>C	ENST00000355193.2	-	33	5158	c.4940A>G	c.(4939-4941)gAa>gGa	p.E1647G	KMT2C_ENST00000262189.6_Missense_Mutation_p.E1647G					lysine (K)-specific methyltransferase 2C																		AGTTGCCATTTCACCCAGAGC	0.438000													43	120					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561572	9561572	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9561572G>A	ENST00000378429.3	-	5	756	c.210C>T	c.(208-210)atC>atT	p.I70I	PAK7_ENST00000378423.1_Silent_p.I70I|PAK7_ENST00000353224.5_Silent_p.I70I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	70	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCCTCTAACGATTGTCTGGG	0.418000													65	117					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568264	7568264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:7568264C>T	ENST00000340209.4	+	2	455	c.158C>T	c.(157-159)cCc>cTc	p.P53L	RBFOX1_ENST00000436368.2_Missense_Mutation_p.P68L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P48L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P84L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P48L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P91L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P68L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P68L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P84L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P48L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P91L			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	48					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CATCCCCACCCCGCGCCAGAG	0.662000													93	114					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195525	18195525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18195525G>A	ENST00000314254.3	+	1	1142	c.722G>A	c.(721-723)aGg>aAg	p.R241K	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	241						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTAATTTACAGGATGCACCTG	0.502000													15	33					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24515547	24515547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24515547G>A	ENST00000398319.2	+	28	4899	c.4514G>A	c.(4513-4515)cGg>cAg	p.R1505Q	CABIN1_ENST00000263119.5_Missense_Mutation_p.R1505Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1426Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1505					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGAGCAGCGGCAGTTTCTC	0.642000													72	89					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304602	115304602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:115304602G>A	ENST00000371906.4	+	3	1259	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	357					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTCTCTTAGAGAAATGGAGAC	0.423000													41	17					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522824	138522824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138522824G>A	ENST00000440172.1	-	20	5680	c.5632C>T	c.(5632-5634)Cct>Tct	p.P1878S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1894S|TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1828S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1894						integral to membrane		p.P1894S(1)|p.P1828S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCCCGGAAGGAGCTGAGGGC	0.602000			O	BRAF	pilocytic astrocytoma								4	6					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173760	106173760	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106173760C>T	ENST00000390547.2	-	0	806																											GGGGCAGCTCCTGTGACCCCT	0.677000													5	41					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933161	32933161	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:32933161A>T	ENST00000383763.4	+	4	2528	c.2465A>T	c.(2464-2466)gAa>gTa	p.E822V		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	822					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGATGTTTGAATCCAACGGC	0.592000													101	214					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206791	104206791	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:104206791G>A	ENST00000202556.9	-	12	2244	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	PPP1R13B_ENST00000423488.2_Silent_p.P73P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	654	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CGGGGGCGGCGGGGCCATCCT	0.647000													70	52					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419581	123419581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:123419581C>T	ENST00000360772.3	-	19	3112	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	MYLK_ENST00000475616.1_Missense_Mutation_p.E912K|MYLK_ENST00000359169.1_Missense_Mutation_p.E912K|MYLK_ENST00000360304.3_Missense_Mutation_p.E912K|MYLK_ENST00000346322.5_Missense_Mutation_p.E843K			Q15746	MYLK_HUMAN	myosin light chain kinase	912	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTCGTCTTCCGATAGGGTC	0.582000													31	74					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6519549	6519549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6519549C>T	ENST00000254579.6	+	3	668	c.104C>T	c.(103-105)cCc>cTc	p.P35L	DNHD1_ENST00000527990.2_Missense_Mutation_p.P35L|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Missense_Mutation_p.P35L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	35					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGAACAGCCCTTGGCCTGC	0.537000													58	207					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19959780	19959780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:19959780C>T	ENST00000295824.9	-	4	1282	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.G244E	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	374					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTTGGTAATCCTGGTGCTTG	0.373000													142	338					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711576	162711576	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:162711576A>G	ENST00000375514.5	+	6	833	c.546A>G	c.(544-546)agA>agG	p.R182R	SLC4A10_ENST00000446997.1_Silent_p.R171R|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.R171R|SLC4A10_ENST00000415876.2_Silent_p.R171R|SLC4A10_ENST00000535165.1_Silent_p.R171R|SLC4A10_ENST00000272716.5_Silent_p.R171R	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	171					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGAATTGAGAAGTTGTATTC	0.403000													23	57					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507545	28507545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28507545C>T	ENST00000564831.1	+	2	1216	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	APOBR_ENST00000431282.1_Missense_Mutation_p.P386S|APOBR_ENST00000328423.5_Missense_Mutation_p.P386S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	386	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGGAGCAGTCCCAGGAGAAAG	0.602000													7	17					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46595918	46595918	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46595918C>A	ENST00000539173.1	+	4	737	c.302C>A	c.(301-303)aCt>aAt	p.T101N	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.T101N|ADARB1_ENST00000348831.4_Missense_Mutation_p.T101N|ADARB1_ENST00000389863.4_Missense_Mutation_p.T101N	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	101	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTGTCCCAGACTGGGCCCGTG	0.537000													42	124					2.46787e-29	2.5298e-29	1	1	0
KLHDC9	126823	broad.mit.edu	37	1	161069161	161069161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161069161G>A	ENST00000392192.2	+	2	695	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	KLHDC9_ENST00000368011.4_Missense_Mutation_p.A185T|KLHDC9_ENST00000490724.2_3'UTR	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	185										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCACACAGCCTCACGCTC	0.542000													22	40					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499745	93499745	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:93499745G>A	ENST00000394196.4	+	16	2934	c.1866G>A	c.(1864-1866)ttG>ttA	p.L622L	CHD2_ENST00000557381.1_Silent_p.L622L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	622	Helicase ATP-binding.				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)			CCCATCGGTTGAAGAATGATG	0.453000													51	72					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003568	41003568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41003568G>A	ENST00000308423.2	+	1	368	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	70					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGAGCTGACGGCTGTGATGCG	0.642000													87	144					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933032	2933032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2933032G>A	ENST00000228799.2	+	11	1302	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	ITFG2_ENST00000419778.2_Missense_Mutation_p.R211Q|ITFG2_ENST00000542548.1_Missense_Mutation_p.R276Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	388										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGCTGGAGCGGATGGAGTCT	0.582000													74	109					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53682885	53682885	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53682885C>T	ENST00000257934.4	+	21	4811	c.4720C>T	c.(4720-4722)Ctg>Ttg	p.L1574L	ESPL1_ENST00000552462.1_Silent_p.L1574L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1574					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTTTCTACCCTGGACTCCAT	0.498000													21	51					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114282522	114282522	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:114282522G>A	ENST00000545145.2	-	23	2814	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S	RBM19_ENST00000392561.3_Silent_p.S912S|RBM19_ENST00000261741.5_Silent_p.S912S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	912	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGTCACCTCGGAGTCGGCCC	0.642000													12	27					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013852	108013852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:108013852G>A	ENST00000280758.5	+	11	3070	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E385K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E729K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E848K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	848						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTGTTAAAGGAGTTTAAGAC	0.577000													19	54					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335653	180335653	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180335653C>T	ENST00000231229.4	+	2	351	c.117C>T	c.(115-117)tcC>tcT	p.S39S	BTNL8_ENST00000508408.1_Silent_p.S39S|BTNL8_ENST00000340184.4_Silent_p.S39S|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	39	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCATTCTCCTGTTTCCTGT	0.557000													29	27					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228832	67228832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67228832C>T	ENST00000379378.3	+	6	816	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	253					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)		CACTGCTGTCCCTGGCAGTGC	0.582000													38	47					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55964805	55964805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:55964805C>T	ENST00000389286.4	-	11	1926	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	627	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTCAGAGGCTCCAAATGCAAC	0.438000													12	21					0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193059	102193059	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102193059C>T	ENST00000218249.5	+	1	860	c.813C>T	c.(811-813)acC>acT	p.T271T	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	271					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAAACTGCACCAGAAACAGCT	0.507000													38	18					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246173	145246173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:145246173G>A	ENST00000377976.1	-	2	454	c.455C>T	c.(454-456)gCt>gTt	p.A152V		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	152										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCTTCCTCAGCCTCCTCTTC	0.443000													12	76					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10221786	10221786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:10221786C>T	ENST00000253107.7	+	12	1473	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PPAN_ENST00000556468.1_Intron|PPAN_ENST00000393793.1_Missense_Mutation_p.S403F|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron	NM_020230.5	NP_064615.3			peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGAGGGGCTTCCCGGGATGGT	0.682000													3	16					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32798488	32798488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:32798488C>T	ENST00000380250.3	+	37	5378	c.4882C>T	c.(4882-4884)Ccg>Tcg	p.P1628S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACTATCTCCCGGAGACCAT	0.562000													30	17					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531535	150531535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150531535G>A	ENST00000271643.4	+	16	2893	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G909E|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G886E	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	886	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAGCAGGAACTGGGCAG	0.687000													20	25					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057248	102057248	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:102057248G>C	ENST00000549145.1	+	21	2330	c.2230G>C	c.(2230-2232)Gac>Cac	p.D744H	MYBPC1_ENST00000547509.1_Missense_Mutation_p.D717H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D731H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D731H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D731H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D705H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D756H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D719H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D731H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D731H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D731H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D632H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D718H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D712H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D756H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	731	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTCTGTCACTGACACGACTGT	0.443000													69	104					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516989	192516989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:192516989G>A	ENST00000392452.2	-	2	982	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	221										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CAGAATGATGGAGATGATGGT	0.468000													30	56					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78440676	78440676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:78440676C>T	ENST00000278550.7	-	22	3613	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATAGAGATTTCCTCCTGCAAA	0.582000													39	72					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49948123	49948123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49948123C>T	ENST00000417270.1	-	5	1525	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	MON1A_ENST00000455683.2_Missense_Mutation_p.G205S|MON1A_ENST00000296473.3_Missense_Mutation_p.G367S|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	270							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCTCTGAGCCCGAGAGTAGG	0.622000													7	17					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354002	98354002	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98354002G>A	ENST00000264972.5	+	11	1571	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.L145L|ZAP70_ENST00000442208.1_Silent_p.L326L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	452	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGAAGTACCTGGAGGAGAAGA	0.622000													19	68					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39597622C>T	ENST00000331256.5	+	12	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000													12	52					0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052426	21052426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21052426C>T	ENST00000335950.4	-	3	670	c.208G>A	c.(208-210)Gat>Aat	p.D70N	RNASE11_ENST00000398008.2_Missense_Mutation_p.D70N|RNASE11_ENST00000555841.1_Missense_Mutation_p.D70N|RNASE11_ENST00000553849.1_Missense_Mutation_p.D70N|RNASE11_ENST00000432835.2_Missense_Mutation_p.D70N|RNASE11_ENST00000398009.2_Missense_Mutation_p.D70N	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	70						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAAGACATATCATCCTTGGAC	0.388000													91	93					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192875	34192875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:34192875C>T	ENST00000297161.2	+	16	2422	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	BMPER_ENST00000426693.1_Missense_Mutation_p.P683L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	683					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCTTTGTCCCCAGCGGTGA	0.507000													41	53					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122172	50122172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50122172C>T	ENST00000374160.3	-	1	105	c.29G>A	c.(28-30)gGc>gAc	p.G10D	LRRC18_ENST00000298124.3_Missense_Mutation_p.G10D|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	10						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATCTTCTTGCCCTTGGGGCC	0.438000													21	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115111	168115111	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168115111T>C	ENST00000409728.1	+	11	2243	c.2154T>C	c.(2152-2154)gtT>gtC	p.V718V	XIRP2_ENST00000409043.1_Silent_p.V685V|XIRP2_ENST00000420519.1_Silent_p.V718V|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Silent_p.V463V|XIRP2_ENST00000409756.2_Silent_p.V685V|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCAGAAGTTTTACAGGTTA	0.313000													10	40					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115341615	115341615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:115341615C>T	ENST00000357872.4	+	13	2168	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AQPEP_ENST00000395528.2_Missense_Mutation_p.P199S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		682					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GCAGGCGATTCCTGTTATTCA	0.363000													9	30					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404253	124404253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124404253C>T	ENST00000303921.2	-	1	1428	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	260						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCGTAGGCTCCATAGGACTCC	0.597000													26	65					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484001	31484001	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31484001C>T	ENST00000333137.7	+	3	320	c.102C>T	c.(100-102)atC>atT	p.I34I	SMTN_ENST00000358743.1_Silent_p.I34I|SMTN_ENST00000347557.2_Silent_p.I34I|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	34					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTCAGCCATCCGGGAACTGC	0.667000													23	23					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128410902	128410902	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128410902C>T	ENST00000368227.3	-	8	1764	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	PTPRK_ENST00000368207.3_Silent_p.K466K|PTPRK_ENST00000368210.3_Silent_p.K466K|PTPRK_ENST00000368226.4_Silent_p.K466K|PTPRK_ENST00000368215.3_Silent_p.K466K|PTPRK_ENST00000368213.5_Silent_p.K466K|PTPRK_ENST00000532331.1_Silent_p.K466K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	466	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAGGATCATCTTGAGGCTGA	0.463000													64	156					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031961	79031961	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79031961A>C	ENST00000446378.2	+	2	7404	c.7373A>C	c.(7372-7374)gAt>gCt	p.D2458A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2458						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAGAAAGATAATTTGGAA	0.368000													6	42					0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2937127	2937127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2937127C>T	ENST00000337508.4	-	4	705	c.665G>A	c.(664-666)gGg>gAg	p.G222E	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	222					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGTCTCCTGCCCCAGCTGTAG	0.612000													31	53					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831487	49831487	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:49831487G>A	ENST00000527477.1	+	0	1712																											GGGACTCTTGGAATTGGGCTT	0.458000													8	31					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:128696912C>T	ENST00000265068.5	-	5	951	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.E150K|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E262K	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000													22	56					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176738746G>A	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		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						TTTCTAGAAGGAAATTCTGCT	0.453000													31	68					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:28225794C>T	ENST00000305242.5	-	15	2205	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_ENST00000537576.1_Missense_Mutation_p.E397K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E230K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000													26	37					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336799	336799	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:336799G>A	ENST00000343164.4	-	8	919	c.867C>T	c.(865-867)tcC>tcT	p.S289S	SLC6A13_ENST00000445055.2_Silent_p.S197S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGATGGCGAAGGAGAAGAATA	0.572000													24	54					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903457	166903457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166903457C>T	ENST00000423058.2	-	9	1217	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	SCN1A_ENST00000303395.4_Missense_Mutation_p.M400I|SCN1A_ENST00000409050.1_Missense_Mutation_p.M400I|SCN1A_ENST00000375405.3_Missense_Mutation_p.M400I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	400						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAAAAAATATCATGTACGTTT	0.383000													35	69					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918270	11918270	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:11918270C>T	ENST00000376468.3	-	2	486		c.e2+1			NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B						body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GGGGTGCTTACCTTTGCAGCC	0.597000													20	29					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98986506	98986506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98986506G>A	ENST00000393504.1	+	2	485	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	CNGA3_ENST00000436404.2_Missense_Mutation_p.R23Q|CNGA3_ENST00000272602.2_Missense_Mutation_p.R23Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	23					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACCTCAGACCGAGATCTCAAT	0.507000													17	42					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446812	226446812	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:226446812T>C	ENST00000272907.6	+	4	1092	c.679T>C	c.(679-681)Tcc>Ccc	p.S227P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	227																	GCGGGACTCCTCCTTGTCCCA	0.582000													91	122					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951317	73951317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:73951317G>A	ENST00000370384.3	-	5	1149	c.649C>T	c.(649-651)Cct>Tct	p.P217S	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.P144S	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	217						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GAAGGCTGAGGAACGCTAAGA	0.507000													40	93					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669702	49669702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:49669702G>A	ENST00000561648.1	-	4	3414	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ZNF423_ENST00000562520.1_Missense_Mutation_p.R1061C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1004C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1121C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1004C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1061C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1061C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1121					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)				TCGGGGCAACGGAGGCCGGCA	0.721000													30	95					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141607771G>A	ENST00000389484.3	-	29	5810	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)			36	65					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34455820	34455820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:34455820G>A	ENST00000256544.3	-	2	200	c.58C>T	c.(58-60)Cat>Tat	p.H20Y		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1									p.H20N(1)									TCAATGAAATGATCCTCAATC	0.279000													19	29					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515862	26515862	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26515862G>A	ENST00000531191.1	+	20	2198	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	CNKSR1_ENST00000361530.6_Silent_p.R655R|CNKSR1_ENST00000374253.5_Silent_p.R662R			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	662					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)		AGCAGAACCGGGAGCTGTACT	0.617000													16	31					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242023858	242023858	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:242023858A>G	ENST00000366548.3	+	9	1389	c.796A>G	c.(796-798)Acg>Gcg	p.T266A	EXO1_ENST00000348581.5_Missense_Mutation_p.T266A|EXO1_ENST00000518483.1_Missense_Mutation_p.T266A	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	266	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GATGAATATCACGGTACCAGA	0.358000								Editing and processing nucleases					70	80					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528363	24528363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24528363C>T	ENST00000342740.5	+	20	1745	c.1591C>T	c.(1591-1593)Cac>Tac	p.H531Y	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	531										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)		GGAGATCCTCCACAAGCTGGT	0.642000													6	3					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174477	150174477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150174477G>A	ENST00000307271.3	+	5	2181	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	536						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGCTGGGACGATTCACTGAA	0.502000													44	47					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144150751	144150751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:144150751C>T	ENST00000360057.3	-	9	721	c.619G>A	c.(619-621)Gat>Aat	p.D207N	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.D158N|TPK1_ENST00000538212.2_Missense_Mutation_p.D153N|TPK1_ENST00000549981.1_Silent_p.*125*	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	207					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GCAAGCACATCATTTGCTGTA	0.403000													23	72					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179734016	179734016	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179734016A>G	ENST00000420890.2	-	15	2339	c.2222T>C	c.(2221-2223)gTt>gCt	p.V741A	CCDC141_ENST00000295723.5_Missense_Mutation_p.V166A	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	166							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)			AATGTACTGAACCTCATCATT	0.323000													4	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480173	179480173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179480173G>A	ENST00000589042.1	-	259	48723	c.48499C>T	c.(48499-48501)Cga>Tga	p.R16167*	TTN_ENST00000460472.2_Nonsense_Mutation_p.R7102*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13599*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7227*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14526*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7294*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGTTCGATCTCTCCAT	0.433000													79	186					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55307316	55307316	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:55307316A>G	ENST00000358193.3	+	10	1266	c.1212A>G	c.(1210-1212)ctA>ctG	p.L404L	C1orf177_ENST00000371273.3_Intron	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	0										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ggaaaggcctagaagtcatca	0.463000													37	60					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11742532	11742532	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11742532G>A	ENST00000381486.2	+	17	2830	c.2529_splice	c.e17-1	p.G844_splice	GREB1_ENST00000234142.5_Splice_Site_p.G844_splice	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	844						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTGTTTTAGGGAGTGGACTT	0.507000													64	125					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42448650	42448650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42448650C>T	ENST00000381668.5	-	31	3139	c.2908G>A	c.(2908-2910)Gga>Aga	p.G970R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G955R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	970					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTCCCATTTCCAAATGCAGTA	0.398000													18	33					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078618	157078618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:157078618C>T	ENST00000265007.6	-	1	810	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.E157K	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	157					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)			GGACCGGTTTCGACGGCCCCT	0.677000													14	19					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760137	102760137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:102760137C>T	ENST00000417955.1	-	3	982	c.828G>A	c.(826-828)tgG>tgA	p.W276*	NAPEPLD_ENST00000341533.4_Nonsense_Mutation_p.W276*|NAPEPLD_ENST00000455523.2_Nonsense_Mutation_p.W349*|NAPEPLD_ENST00000427257.1_Nonsense_Mutation_p.W276*|NAPEPLD_ENST00000465647.1_Nonsense_Mutation_p.W276*			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	276					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAAATCGATTCCAAGGCCCCA	0.458000													23	93					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79595668	79595668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:79595668C>T	ENST00000372391.2	-	8	1455	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M	DLG5_ENST00000372388.2_Missense_Mutation_p.V484M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	484					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCATTGTCACCGTGTCTTTG	0.602000													27	54					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894208	123894208	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123894208C>T	ENST00000375024.1	+	1	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TATTGACTTTCCATTTGCCCT	0.557000													81	177					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50473723	50473723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50473723G>A	ENST00000228468.4	+	8	1475	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ASIC1_ENST00000552438.1_Missense_Mutation_p.E398K|ASIC1_ENST00000447966.2_Missense_Mutation_p.E364K	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	364					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGCGTGTGTGAAATGCCTTG	0.547000													71	157					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	46054	46054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:46054C>T	ENST00000327669.4	-	1	331	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	111						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCGATCCTCGCACGAATTC	0.706000													30	38					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150849	128150849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128150849G>A	ENST00000368250.1	-	4	742	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.H126Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.H161Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H161Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	161	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTAAATGAGTGAGTTTGATGA	0.388000													46	84					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523649	95523649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:95523649G>A	ENST00000297591.5	-	13	3229	c.3154C>T	c.(3154-3156)Cgt>Tgt	p.R1052C	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.R1052C|KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1052C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1052					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)			CTATCCAAACGACCTGAGAGG	0.403000													17	48					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586146	7586146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7586146C>T	ENST00000313599.3	-	3	326	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G90E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G90E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	90	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						AAATGGACATCCAAGCTGTTT	0.473000													63	92					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48222259	48222259	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48222259C>G	ENST00000302506.3	-	6	909	c.501G>C	c.(499-501)gaG>gaC	p.E167D	CDC25A_ENST00000351231.3_Intron	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	167					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GATCTTTACCCTCCTGGAGTC	0.483000													57	102					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926357	128926357	+	Missense_Mutation	SNP	C	C	T	rs149215914		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:128926357C>T	ENST00000356892.3	+	5	610	c.496C>T	c.(496-498)Cct>Tct	p.P166S		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	166								p.P166S(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGAGGAACCACCTGCCCCCCA	0.627000													101	33					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292869	33292869	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:33292869G>A	ENST00000280979.4	+	13	6020	c.5850G>A	c.(5848-5850)aaG>aaA	p.K1950K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1950					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTGGCAAGGAATTTGTTT	0.383000													35	24					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188875	140188875	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140188875C>T	ENST00000530339.1	+	1	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.I701I|PCDHA4_ENST00000356878.4_Silent_p.I701I|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATACCTGATCATTGCCATCT	0.657000													6	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516193	179516193	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179516193G>A	ENST00000589042.1	-	207	39758	c.39534C>T	c.(39532-39534)gcC>gcT	p.A13178A	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.A10744A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.A11671A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11531	Ig-like 87.						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)			TAGCAGGTGGGGCTTCTGGCT	0.473000													18	35					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600982	161600982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161600982C>T	ENST00000531221.1	-	1	14	c.11G>A	c.(10-12)gGg>gAg	p.G4E	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron|FCGR3B_ENST00000294800.3_5'UTR			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	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)	TTCCCCAGTCCCTCCACCCAT	0.502000													10	17					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139298636	139298636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139298636G>A	ENST00000298537.7	-	8	1221	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	SDCCAG3_ENST00000357365.3_Missense_Mutation_p.S360F|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.S287F	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	360						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTGGAAGTTGGAGACCTGCGC	0.667000													55	57					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69575352	69575352	+	Silent	SNP	G	G	T	rs140814934		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69575352G>T	ENST00000357308.4	-	11	1138	c.960C>A	c.(958-960)ccC>ccA	p.P320P	GFPT1_ENST00000361060.4_Silent_p.P302P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	320					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CAGCTCGTCCGGGGTGATCTC	0.448000													45	125					8.00217e-19	8.13222e-19	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46060605	46060605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46060605C>T	ENST00000295452.4	-	6	827	c.660G>A	c.(658-660)tgG>tgA	p.W220*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	220					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)		AGGGCTTTTTCCACTTATACT	0.358000													13	22					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581227	82581227	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82581227A>T	ENST00000423517.2	-	5	9379	c.9042T>A	c.(9040-9042)gaT>gaA	p.D3014E	PCLO_ENST00000333891.8_Missense_Mutation_p.D3014E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2945					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						CTTCAGAATAATCAAAAGCAT	0.393000													33	76					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996174	144996174	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144996174G>A	ENST00000322810.4	-	32	8395	c.8226C>T	c.(8224-8226)caC>caT	p.H2742H	PLEC_ENST00000356346.3_Silent_p.H2591H|PLEC_ENST00000398774.2_Silent_p.H2573H|PLEC_ENST00000354589.3_Silent_p.H2605H|PLEC_ENST00000345136.3_Silent_p.H2605H|PLEC_ENST00000354958.2_Silent_p.H2583H|PLEC_ENST00000527096.1_Silent_p.H2628H|PLEC_ENST00000436759.2_Silent_p.H2632H|PLEC_ENST00000357649.2_Silent_p.H2609H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2742	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						GCGCGGCCCGGTGCTGCTCCT	0.687000													13	18					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207345994	207345994	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207345994C>T	ENST00000264377.3	+	3	799	c.471C>T	c.(469-471)gcC>gcT	p.A157A	ADAM23_ENST00000374416.1_Silent_p.A157A|ADAM23_ENST00000374415.3_Silent_p.A157A	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	157					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGATTGAAGCCTTCGGCTCCA	0.368000													18	33					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657298	143657298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143657298C>T	ENST00000392899.1	+	1	272	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGTGTAGTCCCTCAGCTGCT	0.502000													119	337					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399539	89399539	+	RNA	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:89399539A>C	ENST00000479981.1	-	0	190																											AAACCAGGCTAAATAATTGCT	0.512000													60	120					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473519	19473519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:19473519G>A	ENST00000507958.1	-	15	3179	c.2189C>T	c.(2188-2190)cCc>cTc	p.P730L	CDH18_ENST00000274170.4_Missense_Mutation_p.P730L|CDH18_ENST00000382275.1_Missense_Mutation_p.P730L|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCATAAGGGGGAACGCTAGG	0.488000													28	26					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616661	25616661	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25616661A>T	ENST00000232165.3	-	6	1316	c.660T>A	c.(658-660)aaT>aaA	p.N220K	UBE3A_ENST00000397954.2_Missense_Mutation_p.N223K|UBE3A_ENST00000566215.1_Missense_Mutation_p.N200K|UBE3A_ENST00000428984.2_Missense_Mutation_p.N200K|UBE3A_ENST00000438097.1_Missense_Mutation_p.N200K|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	223					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTTTTGCAAATTGTTGTCTC	0.413000													75	123					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798497	39798497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39798497G>A	ENST00000248668.4	-	2	2091	c.2092C>T	c.(2092-2094)Ccg>Tcg	p.P698S		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGCGGCCTCGGCCGGGCCGCG	0.721000													5	10					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530710	80530710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:80530710C>T	ENST00000295057.3	-	2	891	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.E79K|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	79						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCAGCTCCGAGAGGCTG	0.637000										HNSCC(69;0.2)			48	69					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804912	39804912	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39804912C>T	ENST00000248668.4	-	1	1064	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	355	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGTCACATCCAGCGTCCCGT	0.682000													10	19					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696909	48696909	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48696909G>A	ENST00000544264.1	-	1	3439	c.3159C>T	c.(3157-3159)atC>atT	p.I1053I	CELSR3_ENST00000164024.4_Silent_p.I1053I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1053	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATCACCTGGATACTGACTG	0.557000													125	225					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654858	29654858	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:29654858G>A	ENST00000358273.4	+	38	5992		c.e38+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAGTTTACGGTAGGTTTTTT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	13					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2694603	2694603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2694603G>A	ENST00000399655.1	+	17	2666	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	CACNA1C_ENST00000347598.4_Missense_Mutation_p.E801K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E801K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E801K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E801K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E801K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E826K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E801K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E801K	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	801					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)	GGAATCCAAGGAGGAGAAGAT	0.552000													5	13					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551089	100551089	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:100551089C>T	ENST00000397112.4	-	0	1893				AC010203.1_ENST00000408843.1_RNA	NR_036632.1															large_intestine(1)|lung(3)	4						GTGCAGCTCTCTTTGCCGTGC	0.587000													58	94					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43556007	43556007	+	Silent	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:43556007T>A	ENST00000306846.3	-	2	592	c.360A>T	c.(358-360)gtA>gtT	p.V120V	PAIP1_ENST00000436644.2_Silent_p.V41V|PAIP1_ENST00000338972.4_Silent_p.V8V|PAIP1_ENST00000514514.1_Silent_p.V41V	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	120	PABPC1-interacting motif-2 (PAM2).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATACAGGAGCTACAACCACCT	0.473000													125	129					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049375	184049375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:184049375G>A	ENST00000342981.4	+	29	4793	c.4379G>A	c.(4378-4380)cGg>cAg	p.R1460Q	EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1466Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1466Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1296Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1373Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1466Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1264Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1459Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1419Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1372Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1459Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1263Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1295Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1420Q	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1459	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTAACCAGCGGGTGTTCGAC	0.582000													71	34					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001494	49001494	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49001494C>T	ENST00000600059.1	-	11	3059	c.2832G>A	c.(2830-2832)gcG>gcA	p.A944A	LMTK3_ENST00000270238.3_Silent_p.A973A					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCATTCTCCGCCGCCTTCT	0.637000													18	62					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10518398	10518398	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:10518398G>A	ENST00000444303.2	+	9	1465	c.993G>A	c.(991-993)ggG>ggA	p.G331G	AMPD3_ENST00000396554.3_Silent_p.G499G	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	490			R -> C (in AMPDDE).		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)		CAAACTTTGGGAAGATGCTGG	0.498000													33	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458032	179458032	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179458032G>C	ENST00000589042.1	-	299	59127	c.58903C>G	c.(58903-58905)Cca>Gca	p.P19635A	TTN_ENST00000460472.2_Missense_Mutation_p.P10570A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17067A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10695A|TTN_ENST00000591111.1_Missense_Mutation_p.P17994A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10762A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17994	Fibronectin type-III 42.						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)			TTAGTGTATGGATGAATAGGA	0.408000													45	92					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896078	70896078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70896078C>T	ENST00000393567.2	-	69	11800	c.11650G>A	c.(11650-11652)Gag>Aag	p.E3884K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3884										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGGAACCCTCGGCCCAGTGG	0.562000													5	34					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152054327	152054327	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:152054327A>T	ENST00000409598.4	-	16	2875	c.1708T>A	c.(1708-1710)Tca>Aca	p.S570T	SH3D19_ENST00000409252.2_Missense_Mutation_p.S593T|SH3D19_ENST00000427414.2_Missense_Mutation_p.S534T|SH3D19_ENST00000424281.1_Missense_Mutation_p.S534T|SH3D19_ENST00000514152.1_Missense_Mutation_p.S570T|SH3D19_ENST00000455740.1_Missense_Mutation_p.S570T|SH3D19_ENST00000304527.4_Missense_Mutation_p.S593T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	593					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCTCCCTCTGAGAAACTCAAC	0.418000													27	57					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172683	91172683	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:91172683T>C	ENST00000420329.2	+	11	1332	c.1185T>C	c.(1183-1185)ctT>ctC	p.L395L	CRTC3_ENST00000268184.6_Silent_p.L395L|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	395					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTCTCACGCTTTCTCCTGGCC	0.577000			T	MAML2	salivary gland mucoepidermoid								99	152					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328727	141328727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:141328727G>T	ENST00000286364.3	+	23	2373	c.2338G>T	c.(2338-2340)Gga>Tga	p.G780*	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Nonsense_Mutation_p.G781*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	780					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGCTTGTGGAACTATTGC	0.328000													41	25					1.51943e-15	1.53851e-15	1	1	0
HAGH	3029	broad.mit.edu	37	16	1867246	1867246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:1867246C>T	ENST00000397356.3	-	6	974	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	HAGH_ENST00000397353.2_Missense_Mutation_p.G142R|HAGH_ENST00000566709.1_Missense_Mutation_p.G142R|HAGH_ENST00000455446.2_Silent_p.A153A	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	190					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TAGAACTTCCCGCAGCCAGCC	0.632000													26	20					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204626	128204626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:128204626C>T	ENST00000341105.2	-	3	1146	c.815G>A	c.(814-816)gGg>gAg	p.G272E	GATA2_ENST00000430265.2_Missense_Mutation_p.G272E|GATA2_ENST00000487848.1_Missense_Mutation_p.G272E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	272					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCCGGTCCCCCCAGGAAGCC	0.642000			Mis		AML(CML blast transformation)								15	29					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579670	55579670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55579670C>T	ENST00000333973.2	+	1	817	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGTGCTTCCCACCTCACA	0.522000													25	60					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145628392	145628392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145628392G>A	ENST00000296575.3	+	6	1792	c.1137G>A	c.(1135-1137)atG>atA	p.M379I		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	379	Interaction with SHH zinc binding site.					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)		TGGATGATATGGAAGAAATGG	0.443000													23	67					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100892148	100892148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:100892148C>T	ENST00000343933.5	-	8	1152	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E299K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	299					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCGCTCACCTCGTAGTAGCGG	0.562000													57	37					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84415548	84415548	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:84415548C>T	ENST00000260505.8	-	4	656	c.279_splice	c.e4+1	p.Q93_splice	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	93	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AATTTCCTACCTGATAATTTT	0.333000													21	29					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997056	62997056	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:62997056G>A	ENST00000306494.6	-	1	68	c.69C>T	c.(67-69)ttC>ttT	p.F23F	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	23					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACATTATAAGGAAAACCATCT	0.468000													18	34					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655863	138655863	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:138655863C>T	ENST00000251691.4	+	33	6046	c.5880C>T	c.(5878-5880)acC>acT	p.T1960T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1960					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAAAGAAACCCCTTCCGAGG	0.642000													13	16					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234330	103234330	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103234330C>T	ENST00000424685.2	-	27	3871		c.e27-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000428762.1_Splice_Site			P78509	RELN_HUMAN	reelin						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)		CATAAAAGTTCTAATAGAAAC	0.343000													9	31					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45371801	45371801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:45371801G>A	ENST00000402690.2	-	10	1584	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F	SMAD2_ENST00000262160.6_Missense_Mutation_p.S397F|SMAD2_ENST00000586040.1_Missense_Mutation_p.S367F|SMAD2_ENST00000356825.4_Missense_Mutation_p.S367F|SMAD2_ENST00000591214.1_Missense_Mutation_p.S367F	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	397	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTGATTAACAGACTGAGCCAG	0.378000													53	73					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61554129	61554129	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:61554129C>T	ENST00000403491.3	+	2	820	c.336C>T	c.(334-336)ggC>ggT	p.G112G	NFIA_ENST00000485903.2_Silent_p.G112G|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Silent_p.G112G|NFIA_ENST00000371185.2_Silent_p.G112G|NFIA_ENST00000371187.3_Silent_p.G112G|NFIA_ENST00000371189.4_Silent_p.G157G|NFIA_ENST00000407417.3_Silent_p.G104G|NFIA_ENST00000371191.1_Silent_p.G135G	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	112					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						ACCAGAAAGGCAAGATGCGAA	0.448000													52	106					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394539	109394539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:109394539C>T	ENST00000370001.3	-	2	1016	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G250S|AKNAD1_ENST00000369994.1_Missense_Mutation_p.G250S	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	250										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGACCTTGGCCGTATTTGAAC	0.388000													78	124					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579150	33579150	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33579150G>A	ENST00000228567.3	-	2	728	c.432C>T	c.(430-432)gtC>gtT	p.V144V	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	144						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAGCAGTTTGGACTTCTGCTG	0.368000													90	143					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66613527	66613527	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66613527G>A	ENST00000309657.3	+	8	995	c.951G>A	c.(949-951)ttG>ttA	p.L317L	RCE1_ENST00000525356.1_Silent_p.L194L|RCE1_ENST00000524506.1_Silent_p.L296L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	317					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGTGCTTTTGGAGCGGGCAG	0.632000													31	82					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143514	161143514	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:161143514C>A	ENST00000348849.3	-	7	1152	c.722G>T	c.(721-723)gGa>gTa	p.G241V	RBMS1_ENST00000392753.3_Missense_Mutation_p.G241V|RBMS1_ENST00000409972.1_Missense_Mutation_p.G208V|RBMS1_ENST00000409289.2_Missense_Mutation_p.G208V|RBMS1_ENST00000409075.1_Missense_Mutation_p.G208V|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	241					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CCATGGTCTTCCATTAGGGAT	0.443000													54	117					8.37424e-50	8.6074e-50	1	1	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000													115	240					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31330321	31330321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:31330321G>A	ENST00000542188.1	-	18	2729	c.2416C>T	c.(2416-2418)Cgc>Tgc	p.R806C	TRPM1_ENST00000397795.2_Missense_Mutation_p.R767C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R789C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	767					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATATGTGCGAAATTCCAAA	0.388000													18	23					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300165	161300165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:161300165G>A	ENST00000428797.2	+	6	653	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	GABRA1_ENST00000393943.4_Missense_Mutation_p.E100K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E100K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E100K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E100K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E100K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	100					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGGAAGGATGAAAGGTTAAA	0.358000													9	104					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501871	55501871	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55501871T>C	ENST00000543010.1	+	10	2682	c.2537_splice	c.e10-1	p.L847_splice	NLRP2_ENST00000448584.2_Splice_Site_p.L847_splice|NLRP2_ENST00000427260.2_Splice_Site_p.L824_splice|NLRP2_ENST00000263437.6_Splice_Site_p.L844_splice|NLRP2_ENST00000339757.7_Splice_Site_p.L825_splice|NLRP2_ENST00000537859.1_Splice_Site_p.L825_splice|NLRP2_ENST00000391721.4_Splice_Site_p.L823_splice|NLRP2_ENST00000538819.1_Splice_Site_p.L823_splice	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	847					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTTGTAGGTTGGAAAACTG	0.512000													25	40					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408880	47408880	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:47408880G>A	ENST00000295454.3	+	8	1309	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	GABRB1_ENST00000538619.1_Silent_p.K269K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	339					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCAGAAAAAGGGAGCTAGCA	0.373000													23	32					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4566853C>T	ENST00000360213.1	+	1	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(1)		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)		AGTGGTGGGTCGTTTGGGGCT	0.522000													12	48					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37893028	37893028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37893028C>T	ENST00000403299.1	-	13	2161	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CARD10_ENST00000406271.3_Missense_Mutation_p.E363K|CARD10_ENST00000251973.5_Missense_Mutation_p.E649K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	649					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCTCACCTCTCTTGGTTCC	0.602000													79	169					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498158	183498158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183498158C>T	ENST00000367537.3	+	8	970	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	SMG7_ENST00000515829.2_Missense_Mutation_p.L230F|SMG7_ENST00000456731.2_Missense_Mutation_p.L188F|SMG7_ENST00000347615.2_Missense_Mutation_p.L230F|SMG7_ENST00000508461.1_Missense_Mutation_p.L188F|SMG7_ENST00000507469.1_Missense_Mutation_p.L230F|SMG7_ENST00000507406.1_3'UTR			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	230					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAAAAAGCACTTTCTAAAGC	0.408000													29	75					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366914	248366914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248366914C>T	ENST00000456743.1	+	1	583	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGACTTCCCCTCCCTACTA	0.413000													69	199					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529468	5529468	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5529468A>G	ENST00000311659.4	-	2	1468	c.1321T>C	c.(1321-1323)Ttg>Ctg	p.L441L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	441										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)		AGATCAGGCAAGTTTGTGCTA	0.537000													31	59					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954275	95954275	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95954275C>T	ENST00000317620.9	+	22	2512	c.2379C>T	c.(2377-2379)atC>atT	p.I793I	PROM2_ENST00000403131.2_Silent_p.I793I|PROM2_ENST00000542147.1_Silent_p.I744I|PROM2_ENST00000317668.4_Silent_p.I793I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	793						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						TCTTCCTGATCCCCAGCATCA	0.607000													40	85					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680196	95680196	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:95680196C>T	ENST00000433389.2	+	10	1141	c.951C>T	c.(949-951)gcC>gcT	p.A317A	ESRP1_ENST00000423620.2_Silent_p.A317A|ESRP1_ENST00000454170.2_Silent_p.A317A|ESRP1_ENST00000358397.5_Silent_p.A317A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	317					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ATGAGGTAGCCCAGTTTCTCT	0.453000													25	32					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456627	5456627	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:5456627C>T	ENST00000222033.4	+	1	1202	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	375						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)		AGGACCCCTCCCTACCGGGCC	0.682000													38	37					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647063	78647063	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:78647063G>T	ENST00000286627.5	-	27	4450	c.3498C>A	c.(3496-3498)tcC>tcA	p.S1166S	KCNMA1_ENST00000372443.1_Silent_p.S1193S|KCNMA1_ENST00000404771.3_Silent_p.S1224S|KCNMA1_ENST00000286628.8_Silent_p.S1224S|KCNMA1_ENST00000406533.3_Silent_p.S1228S|KCNMA1_ENST00000354353.5_Silent_p.S1227S|KCNMA1_ENST00000404857.1_Silent_p.S1207S|KCNMA1_ENST00000372440.1_Silent_p.S1166S	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1224					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTTTGTCCCGGGACTCCCTGG	0.542000													85	183					5.14759e-42	5.28737e-42	1	1	0
APPBP2	10513	broad.mit.edu	37	17	58539383	58539383	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:58539383A>G	ENST00000083182.3	-	7	1089	c.802T>C	c.(802-804)Tta>Cta	p.L268L	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	268					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGTTTAATTAACTGTTCTGCC	0.294000													142	173					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92403441	92403441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:92403441G>A	ENST00000267620.10	-	5	521	c.352C>T	c.(352-354)Cga>Tga	p.R118*	FBLN5_ENST00000556154.1_Nonsense_Mutation_p.R82*|FBLN5_ENST00000342058.4_Nonsense_Mutation_p.R77*			Q9UBX5	FBLN5_HUMAN	fibulin 5	77					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.R77R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				tagggCCCTCGATACACAGGG	0.572000													40	24					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11311656	11311656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11311656C>T	ENST00000294618.7	-	45	5772	c.5761G>A	c.(5761-5763)Gag>Aag	p.E1921K	DOCK6_ENST00000319867.7_Missense_Mutation_p.E1260K|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1921	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTCCTGCTCGGTGGCAAAG	0.617000													29	22					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187506153	187506153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187506153C>T	ENST00000261023.3	+	12	1271	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	ITGAV_ENST00000433736.2_Missense_Mutation_p.R287C|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.R297C	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	333					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTTCATGGATCGTGGCTCTGA	0.448000													46	89					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127724845	127724845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:127724845C>T	ENST00000354725.3	+	19	2374	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	727					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTAGAGGGCTCCTATGCCCCC	0.542000													17	67					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389080	20389080	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20389080C>T	ENST00000315915.4	+	1	340	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTATTCACCTTTTTACTG	0.433000													12	219					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320584	79320584	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79320584A>G	ENST00000428286.1	-	8	6729	c.5529T>C	c.(5527-5529)ggT>ggC	p.G1843G	PRUNE2_ENST00000376718.3_Silent_p.G2202G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2202					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATACTTGTAAACCTGTACTGT	0.443000													29	34					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150599	14150599	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:14150599G>A	ENST00000263379.2	+	4	536	c.411G>A	c.(409-411)gtG>gtA	p.V137V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	137	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCCCTGACGTGGACTTTTCCG	0.602000													11	74					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15510940	15510940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:15510940C>T	ENST00000455584.2	-	12	2153	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	CDRT1_ENST00000395906.3_Missense_Mutation_p.E394K																							TTTCTCTCCTCCATCAGGACC	0.463000													25	14					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765514	113765514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113765514C>T	ENST00000259211.6	+	4	781	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	124					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TGTGGCTTTCCCTGGCTGGTT	0.507000													32	66					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175447	117175447	+	Missense_Mutation	SNP	G	G	A	rs121908804		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:117175447G>A	ENST00000003084.6	+	6	857	c.725G>A	c.(724-726)aGa>aAa	p.R242K	CFTR_ENST00000454343.1_Missense_Mutation_p.R242K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	242	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGGCTAGGGAGAATGATGATG	0.428000									Cystic Fibrosis				28	76					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785374	130785374	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130785374A>G	ENST00000265909.4	-	1	1030	c.461T>C	c.(460-462)gTt>gCt	p.V154A	SNX19_ENST00000533214.1_Missense_Mutation_p.V154A|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	154	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACTCTGGGCAACAGCATGACT	0.557000													21	34					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144797983	144797983	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144797983C>T	ENST00000358615.4	-	3	213	c.162G>A	c.(160-162)gcG>gcA	p.A54A	GYPE_ENST00000437468.2_Silent_p.A54A	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	54						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CACGAGCCATCGCCCACCAAT	0.348000													9	13					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:81205386C>T	ENST00000552864.1	-	5	762	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000													25	47					0	0	1	0	0
TMEM258	746	broad.mit.edu	37	11	61557365	61557365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:61557365G>A	ENST00000543510.1	-	3	1478	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	TMEM258_ENST00000535042.1_5'UTR|TMEM258_ENST00000537328.1_Missense_Mutation_p.R48C					transmembrane protein 258																		TAGATATCACGAGTGTACTTG	0.542000													8	7					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651918	11651918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11651918G>A	ENST00000252456.2	+	2	302	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.E11K|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	31	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CCACCAGCGGGAGCAGGAGCT	0.627000													10	13					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230595	60230595	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60230595G>A	ENST00000534668.1	+	3	568		c.e3+1		MS4A1_ENST00000534503.1_Splice_Site|MS4A1_ENST00000389939.2_Splice_Site|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Splice_Site|MS4A1_ENST00000345732.4_Splice_Site	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1						B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AGGCATTATGGTGAGTAAAAG	0.473000													31	67					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136175	30136175	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30136175G>A	ENST00000376694.4	+	3	1045	c.576G>A	c.(574-576)agG>agA	p.R192R	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	192					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCAGGCTGAGGGAGCTGGAGC	0.552000													16	34					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252357	46252357	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46252357T>A	ENST00000510861.1	-	10	1497	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y	GABRA2_ENST00000381620.4_Missense_Mutation_p.N442Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.N442Y|GABRA2_ENST00000540012.1_Missense_Mutation_p.N447Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.N442Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.N502Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	442					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTCTCTGTTTAAATATGTA	0.343000													25	47					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32120668	32120668	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:32120668G>A	ENST00000375250.5	-	8	1598	c.1358_splice	c.e8+1	p.R453_splice	ARHGAP12_ENST00000375245.4_Splice_Site_p.R431_splice|ARHGAP12_ENST00000344936.2_Splice_Site_p.R483_splice|ARHGAP12_ENST00000311380.4_Splice_Site_p.R431_splice|ARHGAP12_ENST00000396144.4_Splice_Site_p.R478_splice	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R483*(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGTACTTACCGAACCTTTTTC	0.269000													11	38					0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3939121	3939121	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:3939121C>G	ENST00000228820.4	-	2	226	c.82G>C	c.(82-84)Gac>Cac	p.D28H	PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.D21H	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	21	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTGACGTGTCCATGTCATCC	0.408000													33	53					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055535	167055535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167055535G>A	ENST00000375387.4	-	27	5957	c.5617C>T	c.(5617-5619)Cct>Tct	p.P1873S	SCN9A_ENST00000409672.1_Missense_Mutation_p.P1861S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1872S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.P1873S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1872						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)	ACTTTGGAAGGATTTGCAGAC	0.433000													48	84					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617635	54617635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:54617635G>A	ENST00000302287.3	+	4	812	c.406G>A	c.(406-408)Gag>Aag	p.E136K	VSTM2A_ENST00000402613.3_Missense_Mutation_p.E136K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.E136K|VSTM2A_ENST00000407838.3_Missense_Mutation_p.E136K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E135K			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	136	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAACTACGGGGAGCTTCAGGA	0.527000													7	12					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41654018	41654018	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41654018G>A	ENST00000455915.2	-	6	2177	c.708C>T	c.(706-708)ccC>ccT	p.P236P	RANGAP1_ENST00000405486.1_Silent_p.P236P|RANGAP1_ENST00000407260.4_Silent_p.P181P|RANGAP1_ENST00000356244.3_Silent_p.P236P			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	236					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGCAGCAGGGGGTTGACAG	0.627000													33	67					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858152	42858152	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42858152C>T	ENST00000334370.4	+	21	4421	c.3786C>T	c.(3784-3786)tcC>tcT	p.S1262S	MEGF8_ENST00000251268.6_Silent_p.S1329S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1329						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCACCTTCTCCCCCGACAGCA	0.652000													8	14					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448861	27448861	+	Silent	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27448861A>C	ENST00000337929.3	+	4	678	c.205A>C	c.(205-207)Agg>Cgg	p.R69R	IL21R_ENST00000395754.4_Silent_p.R69R|IL21R_ENST00000395755.1_Silent_p.R69R|IL21R_ENST00000564089.1_Silent_p.R69R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	69					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGCCTCCACAGGTCGGCCCA	0.577000			T	BCL6	NHL								40	58					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263129	232263129	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:232263129C>T	ENST00000287590.5	+	2	960	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	233			V -> I (in dbSNP:rs2290130).		protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCCCCCACGTCCCCTTCATTT	0.562000													49	92					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468504	35468504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:35468504C>T	ENST00000353139.5	-	52	7008	c.6527G>A	c.(6526-6528)cGg>cAg	p.R2176Q	ACACA_ENST00000361253.5_Missense_Mutation_p.R265Q|ACACA_ENST00000394406.2_Missense_Mutation_p.R2139Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R2061Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R2081Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2139	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R2081L(1)|p.R2176L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGGTCCACCCGACGCATGGT	0.463000													53	140					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923768	226923768	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:226923768C>T	ENST00000429204.1	-	2	1719	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	ITPKB_ENST00000272117.3_Silent_p.G464G|ITPKB_ENST00000366784.1_Silent_p.G464G	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	464							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTCCACATTCCCGGTCCCCG	0.652000													18	85					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232806	100232806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100232806G>A	ENST00000305046.8	-	7	903	c.836C>T	c.(835-837)tCc>tTc	p.S279F	ADH1B_ENST00000394887.3_Missense_Mutation_p.S239F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	279					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACATAACAGGGAAGCCATCTG	0.443000													34	107					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633791	7633791	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7633791C>T	ENST00000359156.4	-	15	3511	c.3309G>A	c.(3307-3309)ctG>ctA	p.L1103L	CD163_ENST00000541972.1_Silent_p.L1091L|CD163_ENST00000432237.2_Silent_p.L1103L|CD163_ENST00000396620.3_Silent_p.L1136L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1103					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						CATCTGCATTCAGGCAAGAAT	0.473000													56	86					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475591	42475591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42475591G>A	ENST00000434000.1	-	9	3902	c.3620C>T	c.(3619-3621)cCc>cTc	p.P1207L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1285L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1285						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCCCCACTGGGAGGTGCATA	0.582000													102	173					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42840485	42840485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42840485C>T	ENST00000334370.4	+	6	1866	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P411S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	411						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGACACCGGCCCTCCACTGC	0.637000													13	20					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743575	102743575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:102743575C>T	ENST00000210633.3	+	14	2297	c.2219C>T	c.(2218-2220)cCt>cTt	p.P740L	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Splice_Site|MRPL43_ENST00000370242.4_Splice_Site|SEMA4G_ENST00000370250.4_Missense_Mutation_p.P735L|MRPL43_ENST00000342071.1_Splice_Site|MRPL43_ENST00000318325.2_Splice_Site|MRPL43_ENST00000299179.5_Splice_Site|SEMA4G_ENST00000517724.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	735					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)		GGCCAGTGTCCTGGAGAGGAA	0.667000													7	9					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027790	37027790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37027790C>T	ENST00000358047.3	+	1	1359	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	436										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGCGGATCTCATCTCCGC	0.612000													60	19					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390881	197390881	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:197390881C>T	ENST00000543483.1	+	6	1207	c.810_splice	c.e6-1	p.A271_splice	CRB1_ENST00000538660.1_Silent_p.G641G|CRB1_ENST00000367400.3_Silent_p.G641G|CRB1_ENST00000367399.2_Silent_p.G529G|CRB1_ENST00000535699.1_Silent_p.G572G|CRB1_ENST00000367397.1_Silent_p.G22G|CRB1_ENST00000544212.1_Silent_p.G122G			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	572	EGF-like 7; calcium-binding (Potential).				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						CGTTTGTAGGCTGTCTCCAAG	0.428000													59	145					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15579187	15579187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:15579187G>A	ENST00000344577.2	-	1	83	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	LIPI_ENST00000536861.1_Intron	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	0					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGTGAGAACTGAAAAGCATGA	0.338000													18	23					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73426098	73426098	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:73426098A>G	ENST00000377106.1	-	7	931	c.577T>C	c.(577-579)Tta>Cta	p.L193L	TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Silent_p.L193L|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000396292.4_Silent_p.L193L|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000423814.3_Silent_p.L348L|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000396283.1_Silent_p.L193L|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000360823.2_Silent_p.L193L	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	346						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTGAGTCTAACTGGCAACTA	0.338000													12	7					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27886810	27886810	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:27886810C>T	ENST00000413272.2	-	17	2269	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	NUGGC_ENST00000341513.6_Silent_p.R709R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GGTGCTGCATCCTTTCCTGGG	0.572000													8	14					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223270	2223270	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2223270G>A	ENST00000326181.6	+	10	1014	c.882G>A	c.(880-882)acG>acA	p.T294T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	294					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGCAGCAGACGGATGACCGCT	0.612000													10	11					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747577	143747577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143747577G>A	ENST00000408906.2	+	1	117	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTCCTCTCTGGGCTTTTCTCC	0.507000													39	137					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844420	106844420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:106844420G>A	ENST00000276185.4	+	16	3250	c.3250G>A	c.(3250-3252)Gag>Aag	p.E1084K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1084						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTCCCAACAAGAGGACAGTCT	0.562000													40	11					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754833	60754833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60754833C>T	ENST00000303375.5	+	12	2440	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	680	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CACCAAACTCCGGTATTGCTA	0.662000													7	31					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758418	111758418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111758418C>T	ENST00000261726.6	+	17	2759	c.2605C>T	c.(2605-2607)Ccg>Tcg	p.P869S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	869						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						GCCCTACTACCCGGCCTACGT	0.726000													6	17					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823171	70823171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:70823171G>A	ENST00000353151.3	-	5	507	c.496C>T	c.(496-498)Cag>Tag	p.Q166*		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	166					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CACAGGGGCTGAGGGGGAAGT	0.562000													20	29					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934049	10934049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10934049G>A	ENST00000298232.7	-	15	1241	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	TPTE_ENST00000342420.5_Missense_Mutation_p.P272S|TPTE_ENST00000361285.4_Missense_Mutation_p.P310S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	310	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTAGAGTGGGGACATTATGA	0.299000													22	143					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185550603	185550603	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:185550603A>G	ENST00000393585.2	-	7	870	c.536T>C	c.(535-537)tTt>tCt	p.F179S	CASP3_ENST00000517513.1_Missense_Mutation_p.F179S|CASP3_ENST00000523916.1_Silent_p.L219L|CASP3_ENST00000308394.4_Silent_p.L219L|CASP3_ENST00000393588.4_Missense_Mutation_p.F179S			P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	0					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GCATGGCACAAAGCGACTGGA	0.408000													22	27					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799100	54799100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54799100G>A	ENST00000293379.4	-	12	1336	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	359					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACCTCCTGAGGCCGCCCGTCA	0.632000													14	37					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824845	14824845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14824845C>T	ENST00000380881.4	-	12	2845	c.2030G>A	c.(2029-2031)aGg>aAg	p.R677K	FREM1_ENST00000422223.2_Missense_Mutation_p.R676K|FREM1_ENST00000380880.3_Missense_Mutation_p.R676K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	676					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)		GACCAGCTCCCTGTCATATGA	0.418000													7	6					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587350	55587350	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55587350T>G	ENST00000333976.4	+	1	265	c.245T>G	c.(244-246)aTg>aGg	p.M82R		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	82					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)				GCTCCCAAGATGTTGGTGAAC	0.398000													65	153					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6219501	6219501	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6219501G>A	ENST00000262450.3	-	3	381	c.282C>T	c.(280-282)tcC>tcT	p.S94S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	94	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ttttattcGGGGAGTAGTCAC	0.448000													4	7					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269129	34269129	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:34269129A>G	ENST00000346562.2	+	11	1594	c.1520A>G	c.(1519-1521)aAc>aGc	p.N507S	NPAS3_ENST00000356141.4_Missense_Mutation_p.N539S|NPAS3_ENST00000551492.1_Missense_Mutation_p.N544S|NPAS3_ENST00000357798.5_Missense_Mutation_p.N526S|NPAS3_ENST00000548645.1_Missense_Mutation_p.N509S	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	539					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)		GACTTTGAGAACCCCAAGGCG	0.637000													10	26					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279819	114279819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:114279819C>T	ENST00000357077.4	+	38	10098	c.10045C>T	c.(10045-10047)Cct>Tct	p.P3349S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3316S|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3316					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)		GTCCAAACTCCCTGTCAAAGT	0.468000													14	72					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562668	140562668	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140562668C>T	ENST00000361016.2	+	1	1689	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTCATTTCCGGGTTCTAA	0.448000													12	19					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671859	45671859	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45671859G>A	ENST00000308064.2	-	4	1285	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	205					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCACCGTCTTGATGGCCACGT	0.687000													26	35					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15858885	15858885	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:15858885G>A	ENST00000277632.3	-	10	1051	c.831C>T	c.(829-831)ttC>ttT	p.F277F	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	277					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCCAAATAGGGAATTTTGGAG	0.323000													23	44					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47397211	47397211	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47397211G>T	ENST00000378538.3	-	2	337	c.115C>A	c.(115-117)Ctc>Atc	p.L39I	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.L39I|SPI1_ENST00000227163.4_Missense_Mutation_p.L40I	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	39					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCACTGCTGAGATAGGGGTAA	0.602000													35	117					2.75727e-19	2.80581e-19	1	1	0
ZNF205	7755	broad.mit.edu	37	16	3168911	3168911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3168911C>T	ENST00000382192.3	+	6	695	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.P164S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	164	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCAGGCTTTCCCTTCAGCAG	0.637000													56	48					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080059	152080059	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152080059C>T	ENST00000368804.1	-	2	5633	c.5634G>A	c.(5632-5634)agG>agA	p.R1878R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1878	23 X 26 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)			CCCGTAATTTCCTTTCCCGTT	0.577000													57	107					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588001	113588001	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113588001G>A	ENST00000263341.2	-	7	957	c.747C>T	c.(745-747)ttC>ttT	p.F249F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	249					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCCCTCCCAGGAAGACGGGCA	0.478000													55	116					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487920	24487920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:24487920C>T	ENST00000264463.4	-	12	2726	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	740					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGAATCATTTCCTTCATAGGC	0.463000										HNSCC(23;0.051)			18	111					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57594309	57594309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57594309C>T	ENST00000243077.3	+	63	10565	c.10099C>T	c.(10099-10101)Ccg>Tcg	p.P3367S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3367	LDL-receptor class A 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACGAGCCCCCGGACTGCCG	0.642000													45	59					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681796	30681796	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30681796G>A	ENST00000376406.3	-	3	948	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	MDC1_ENST00000376405.2_Silent_p.L101L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	101	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGGTCTCAGGATTTGAGTA	0.502000								Other conserved DNA damage response genes					31	65					0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65146506	65146506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:65146506C>T	ENST00000258145.3	-	2	394	c.224G>A	c.(223-225)gGa>gAa	p.G75E	GNS_ENST00000542058.1_Intron|GNS_ENST00000418919.2_Missense_Mutation_p.G19E|GNS_ENST00000543646.1_Missense_Mutation_p.G107E	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	75						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CCCCATCTCTCCGATGAGAGC	0.348000													14	16					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967992	48967992	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48967992C>T	ENST00000391884.1	+	2	1745	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	KCNJ14_ENST00000342291.2_Silent_p.P423P			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	423						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTAGCCCCCGAGTTCTCA	0.567000													34	82					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170011003	170011003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170011003C>T	ENST00000263816.3	-	66	12547	c.12262G>A	c.(12262-12264)Gat>Aat	p.D4088N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4088					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)	CAATCATAATCAACAGCTTGG	0.363000													36	53					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329958	51329958	+	Silent	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51329958A>T	ENST00000326856.4	-	5	663	c.534T>A	c.(532-534)tcT>tcA	p.S178S	KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Silent_p.S179S|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	179	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)		TCTTGTCACAAGATGTGTCCG	0.567000													28	96					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370747	55370747	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55370747C>A	ENST00000297316.4	+	1	253	c.49C>A	c.(49-51)Cag>Aag	p.Q17K		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	17			Q -> QTQ (in VUR3).		angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGCCAGACCCAGAGCGCGCT	0.746000													3	8					1	1	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2732330	2732330	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:2732330T>C	ENST00000320876.6	+	25	3454	c.3116T>C	c.(3115-3117)cTa>cCa	p.L1039P	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1039P	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1039					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTGCAAGACTACAAATATTC	0.373000													49	82					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129637	48129637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:48129637C>T	ENST00000244043.4	-	8	1215	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	396					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.E396*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTGTAGATTTCTGGGTCTCTC	0.592000													66	74					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72343389	72343389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:72343389C>T	ENST00000333850.3	+	5	703	c.562C>T	c.(562-564)Cga>Tga	p.R188*	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	188					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAATGTCTATCGACAGAGAAG	0.348000													30	56					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65242052	65242052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:65242052C>T	ENST00000389722.3	-	22	4686	c.4633G>A	c.(4633-4635)Gtg>Atg	p.V1545M	SPTB_ENST00000389720.3_Missense_Mutation_p.V1545M|SPTB_ENST00000389721.5_Missense_Mutation_p.V1545M|SPTB_ENST00000556626.1_Missense_Mutation_p.V1545M|SPTB_ENST00000542895.1_Missense_Mutation_p.V1545M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1545					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGCCTCCACCAGCTGCTGC	0.682000													16	10					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793453	21793453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21793453C>T	ENST00000206660.6	+	15	2278	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S	RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P119S|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P722S|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P760S			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	760					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)		CCCCATAAAACCCAGCCTACA	0.527000													9	12					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105551072	105551072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:105551072C>T	ENST00000332180.5	+	28	2971	c.2884C>T	c.(2884-2886)Ctt>Ttt	p.L962F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	962					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGAAGAAGGTCTTGCAGAAGA	0.294000													21	46					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110140	48110140	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48110140T>C	ENST00000422538.3	-	6	816	c.694A>G	c.(694-696)Aga>Gga	p.R232G	ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000545824.2_Missense_Mutation_p.R169G|ENDOU_ENST00000229003.3_Missense_Mutation_p.R191G|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	232					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						ATGATCTCTCTGAGGAAGGCG	0.582000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	65					0	0	1	0	0
LOC401242	401242	broad.mit.edu	37	6	28829182	28829182	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28829182C>T	ENST00000440244.1	-	0	677					NR_033379.1																						GTAGGAGGGCCGTAGGCAGCC	0.493000													2	2					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270669	129270669	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:129270669G>A	ENST00000287295.3	-	11	1343	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.S19S|AIFM1_ENST00000346424.2_Silent_p.S84S|AIFM1_ENST00000460436.2_Silent_p.S32S|AIFM1_ENST00000319908.3_Silent_p.S367S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	371	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGACTCCAACGGATTGCACAA	0.483000													49	16					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114824	124114824	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124114824G>A	ENST00000424014.2	-	4	469	c.261C>T	c.(259-261)tcC>tcT	p.S87S	EIF2B1_ENST00000537073.1_Silent_p.S87S|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Silent_p.S74S	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	87					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTTTACATTTGGAGTAATCCT	0.408000													47	95					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377984	113377984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:113377984G>A	ENST00000316407.4	-	7	2955	c.2545C>T	c.(2545-2547)Cca>Tca	p.P849S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P849S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	849					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGACAGATGGTAACACAGCA	0.458000													27	43					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681474	44681474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:44681474C>T	ENST00000381176.4	-	4	565	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	145						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCGGGGGTCCTGTTTCATC	0.667000													62	115					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505799	60505799	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:60505799G>A	ENST00000371201.3	-	5	644	c.537C>T	c.(535-537)gcC>gcT	p.A179A	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	179							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCTGACCAGGGCAAGAAGAA	0.438000													17	46					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89953946G>A	ENST00000405460.2	+	21	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1535	Calx-beta 10.				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)		TGACAATGACGAGGAAGGAGA	0.358000													29	38					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845917	70845917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:70845917G>A	ENST00000542342.2	-	6	566	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	SLC39A11_ENST00000579732.1_Nonsense_Mutation_p.Q153*|SLC39A11_ENST00000255559.3_Nonsense_Mutation_p.Q153*	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	160					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTCTTTCTCTGATATGCCTCA	0.532000													17	57					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	38					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075215	117075215	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:117075215G>A	ENST00000355044.3	+	18	3132	c.3006G>A	c.(3004-3006)aaG>aaA	p.K1002K	ATRNL1_ENST00000423111.2_Silent_p.K99K|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1002	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAAAGAAAAGAACTATGAGT	0.403000													35	60					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228746	103228746	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:103228746G>A	ENST00000424970.2	-	4	714	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SLC39A8_ENST00000356736.4_Silent_p.F133F|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000394833.2_Silent_p.F133F	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	133						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCACTGACAGGAATCCATATC	0.378000													33	68					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344943	56344943	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56344943G>A	ENST00000526812.2	-	1	320	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	85					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						GTTCTGAGAGGAAATTGTGCA	0.433000													17	34					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643743	82643743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:82643743C>T	ENST00000533655.1	+	6	1575	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.H154Y|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.H455Y	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	455					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGATAAATTTCATGCAGACCA	0.423000													17	28					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546170	11546170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11546170C>T	ENST00000389362.4	-	3	877	c.842G>A	c.(841-843)gGa>gAa	p.G281E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.612000													138	240					0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2757314	2757314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2757314G>A	ENST00000301738.4	+	6	765	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	KCTD5_ENST00000564195.1_Missense_Mutation_p.R200K	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	231					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCAAGAACGAGGCTCAAGGAT	0.483000													6	61					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334628	50334628	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50334628C>T	ENST00000312865.6	+	10	1193	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	MED25_ENST00000538643.1_Silent_p.S167S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	380	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCGGCCCTTCCCCAGCCCAGC	0.697000													5	5					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075368	76075368	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:76075368G>A	ENST00000395215.3	+	0	1008																											CAGGAGGAGTGGAGGGTGCGG	0.582000													46	80					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													3	33					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303127	47303127	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47303127C>T	ENST00000342922.4	+	8	1649	c.1290_splice	c.e8-1	p.A431_splice	MADD_ENST00000395344.3_Splice_Site_p.A431_splice|MADD_ENST00000349238.3_Splice_Site_p.A431_splice|MADD_ENST00000407859.3_Splice_Site_p.A431_splice|MADD_ENST00000402799.1_Splice_Site_p.A431_splice|MADD_ENST00000406482.1_Splice_Site_p.A431_splice|MADD_ENST00000311027.5_Splice_Site_p.A431_splice|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Splice_Site_p.A431_splice|MADD_ENST00000395336.3_Splice_Site_p.A431_splice	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	431					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)		GTTCCACAGGCCTTGGCCAGC	0.512000													13	43					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043818	20043818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20043818C>T	ENST00000570682.1	-	2	601	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	101						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGATCTTGTCGGGGACCTGA	0.483000													16	30					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400809	11400809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:11400809C>T	ENST00000227756.4	-	4	1009	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		TCCTTCAGTTCCTCTGTCAGG	0.532000													13	48					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170542	113170542	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:113170542G>A	ENST00000401783.2	-	38	7674	c.7338C>T	c.(7336-7338)atC>atT	p.I2446I	SVEP1_ENST00000297826.5_Silent_p.I372I|SVEP1_ENST00000374469.1_Silent_p.I2423I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2446	Sushi 18.				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						TTCCATTGGGGATTTCCTCAG	0.498000													21	18					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48339556	48339556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48339556G>A	ENST00000221996.7	+	3	363	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CRX_ENST00000539067.1_Missense_Mutation_p.E53K|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	53					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCAACTGGAGGAGCTGGAGGC	0.632000													12	65					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162876	2162876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2162876G>A	ENST00000262304.4	-	13	3282	c.3074C>T	c.(3073-3075)tCc>tTc	p.S1025F	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.S1025F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1025	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGCACTGTGGAGACCTGCAG	0.642000													6	67					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895506	42895506	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42895506A>G	ENST00000399770.2	+	1	223	c.223A>G	c.(223-225)Aat>Gat	p.N75D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	75					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGAGAATGAGAATGACCAGGA	0.463000													47	118					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39227957	39227957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39227957C>T	ENST00000328867.4	-	10	1509	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	CAPN12_ENST00000601953.1_Missense_Mutation_p.E252K	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	401	Domain III.				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)			CAGGGCCCTTCCTCATCCTCG	0.642000													8	5					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9000193	9000193	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9000193G>C	ENST00000299698.7	+	15	1912	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.E87Q	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	422						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGCAGAAGTGGAGCTGCAGCT	0.602000													74	145					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744200	54744200	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54744200T>C	ENST00000419410.2	-	6	1209	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	LILRA6_ENST00000245621.5_Missense_Mutation_p.N403S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.N403S|LILRB3_ENST00000407860.2_Intron					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)		CAGGTGGGGGTTGGAGCTGTA	0.597000													23	332					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2679681	2679681	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:2679681G>A	ENST00000268446.5	-	8	1016	c.720C>T	c.(718-720)atC>atT	p.I240I	MYLK4_ENST00000274643.7_Intron			Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGACGTGTCGATCAAAAATC	0.408000													51	105					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500902	26500902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:26500902G>A	ENST00000543632.1	+	17	1967	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.			A -> V (in Ref. 1 and 2).	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						ACCGTTCAACGAGGCAGTCAC	0.682000													13	16					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896428	100896428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100896428C>T	ENST00000369208.3	-	7	1452	c.670G>A	c.(670-672)Gag>Aag	p.E224K	SIM1_ENST00000262901.4_Missense_Mutation_p.E224K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	224	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E224K(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTTGATCTCCGTGACGGCG	0.617000													25	41					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80407105	80407105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:80407105G>A	ENST00000437807.2	-	3	343	c.26C>T	c.(25-27)aCc>aTc	p.T9I	C17orf62_ENST00000306645.5_Missense_Mutation_p.T9I|C17orf62_ENST00000434650.2_Missense_Mutation_p.T9I|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.T9I|C17orf62_ENST00000577732.1_Missense_Mutation_p.T9I|C17orf62_ENST00000583617.1_Missense_Mutation_p.T9I|C17orf62_ENST00000578919.1_Missense_Mutation_p.T9I|C17orf62_ENST00000577436.1_Missense_Mutation_p.T9I|C17orf62_ENST00000585080.1_Missense_Mutation_p.T9I|C17orf62_ENST00000585064.1_Missense_Mutation_p.T9I|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000342572.8_Intron	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	9						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCGGGAGCTGGTGCGGGTCTC	0.647000													4	11					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269775	1269775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1269775G>A	ENST00000447027.1	+	31	11732	c.11674G>A	c.(11674-11676)Gtg>Atg	p.V3892M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V3889M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3889	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGCCTCCAGTGTGGATCAG	0.652000													41	64					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921227	73921227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:73921227G>A	ENST00000276602.6	+	1	129	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TERF1_ENST00000276603.5_Missense_Mutation_p.E36K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	36	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAACGACGAGGAGCAGTT	0.662000													16	28					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112021840	112021840	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:112021840G>A	ENST00000371959.3	-	11	3209	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	AMOT_ENST00000371962.1_Silent_p.I838I|AMOT_ENST00000304758.1_Silent_p.I661I|AMOT_ENST00000524145.1_Silent_p.I1070I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1070					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTCCCAGGATCTGAATGG	0.408000													137	47					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583266	2583266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:2583266G>A	ENST00000340611.4	-	5	1017	c.761C>T	c.(760-762)cCc>cTc	p.P254L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	254					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTGTGCGGCGGGGATGGGGTC	0.682000													28	90					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328055	74328055	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:74328055C>T	ENST00000268059.6	+	8	2349	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A	PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Silent_p.A703A|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACTTTTTTGCCCTCCCCTTCT	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								42	81					0	0	1	0	0
DAD1	1603	broad.mit.edu	37	14	23058021	23058021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23058021C>T	ENST00000250498.4	-	1	154	c.43G>A	c.(43-45)Gag>Aag	p.E15K	DAD1_ENST00000538631.1_Missense_Mutation_p.E15K|DAD1_ENST00000543337.1_Missense_Mutation_p.E15K	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	15					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		CTCAAGTACTCTTCTAAGAAC	0.572000													7	61					0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18542189	18542189	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18542189C>T	ENST00000270061.6	+	6	616	c.396C>T	c.(394-396)ccC>ccT	p.P132P	SSBP4_ENST00000348495.5_Intron	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	132	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGCCGTCCCCCCACAACCCCA	0.701000													12	4					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434647	79434647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:79434647G>A	ENST00000554719.1	+	11	2472	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D661N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCATCAATGATGCTCTTCA	0.507000													38	37					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066061	87066061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:87066061G>A	ENST00000441037.2	+	18	2533	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	AGBL1_ENST00000421325.2_Missense_Mutation_p.G813E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G544E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	813					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.G813S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCACTGAGCGGGGAAGATTTG	0.433000													33	56					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180726	142180726	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142180726C>T	ENST00000390368.2	-	0	198																											TGGTTCATATCCTGGGCACAC	0.512000													106	815					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34233603	34233603	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:34233603G>A	ENST00000587132.1	-	0	4424																											CTACTGTATTGGAGAGGGGTT	0.532000													14	37					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537510	95537510	+	Silent	SNP	G	G	A	rs111349391		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95537510G>A	ENST00000295201.4	+	1	323	c.186G>A	c.(184-186)tcG>tcA	p.S62S	TEKT4_ENST00000427593.2_Silent_p.S62S|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	62					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACCAGTCGGAGCGGCAGC	0.682000													11	47					0	0	1	0	0
LGALS8	3964	broad.mit.edu	37	1	236703877	236703877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:236703877G>A	ENST00000526589.1	+	8	879	c.359G>A	c.(358-360)gGa>gAa	p.G120E	LGALS8_ENST00000352231.2_Missense_Mutation_p.G120E|LGALS8_ENST00000366584.4_Missense_Mutation_p.G120E|LGALS8_ENST00000526634.1_Missense_Mutation_p.G120E|LGALS8_ENST00000416919.2_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.G120E|LGALS8_ENST00000450372.2_Missense_Mutation_p.G120E|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000341872.6_Missense_Mutation_p.G120E|LGALS8_ENST00000323938.6_Missense_Mutation_p.G93E			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	120	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTGTAAATGGAAAACATACT	0.398000													36	110					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561716	65561716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:65561716G>A	ENST00000335987.3	+	2	667	c.315G>A	c.(313-315)atG>atA	p.M105I	OVOL1_ENST00000532448.1_Missense_Mutation_p.M43I	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	105					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCACCAAGATGAAGGTAATGC	0.617000													21	22					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706266	107706266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:107706266G>A	ENST00000388781.3	-	21	2860	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	LAMB4_ENST00000205386.4_Missense_Mutation_p.S926F|LAMB4_ENST00000388780.3_Missense_Mutation_p.S926F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	926	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGATAACAGGAATGGGCAAA	0.423000													117	102					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490162	37490162	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37490162G>A	ENST00000374660.1	+	37	3066		c.e37-1		ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							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						ACTTTTAACAGAGTCTCCGTG	0.284000													27	48					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649777	130649777	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:130649777G>A	ENST00000373146.1	-	6	977	c.798C>T	c.(796-798)ccC>ccT	p.P266P	ST6GALNAC6_ENST00000291839.5_Silent_p.P266P|ST6GALNAC6_ENST00000542456.1_Silent_p.P66P|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.P266P|ST6GALNAC6_ENST00000373141.1_Silent_p.P232P|ST6GALNAC6_ENST00000373144.3_Silent_p.P232P			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	266					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTAGTTGGGGGGGACCATGC	0.607000													17	14					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673322	75673322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:75673322C>T	ENST00000395743.3	-	5	826	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	156					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCCATTTCTTCTTCTTTCTTC	0.348000													7	40					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377413	151377413	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151377413A>G	ENST00000271715.2	-	19	4412	c.4098T>C	c.(4096-4098)tcT>tcC	p.S1366S	POGZ_ENST00000540984.1_Silent_p.S728S|POGZ_ENST00000491586.1_Silent_p.S1322S|POGZ_ENST00000361398.3_Silent_p.S1313S|POGZ_ENST00000392723.1_Silent_p.S1313S|POGZ_ENST00000368863.2_Silent_p.S1271S|POGZ_ENST00000531094.1_Silent_p.S1304S|POGZ_ENST00000409503.1_Silent_p.S1357S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1366					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GTGGAGTGGAAGACTCAGAAT	0.483000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	41	108					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174413	207174413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207174413C>T	ENST00000374423.3	+	5	5547	c.5161C>T	c.(5161-5163)Cat>Tat	p.H1721Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1721							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCAGCGCTCCATCGAAGGGC	0.453000													9	24					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991189	47991189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:47991189C>T	ENST00000371741.4	-	2	1074	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	303					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGAGAATTCGCATGATGCG	0.532000													63	71					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72173110	72173110	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:72173110C>T	ENST00000324262.4	+	4	547	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CNDP2_ENST00000579847.1_Silent_p.L77L|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	77						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AGATCCCGCTCCCTCCTATTC	0.552000													24	53					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600922	41600922	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:41600922A>G	ENST00000330436.3	+	8	1220	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	407					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCTTCTCCAACCCCCGGGAC	0.542000													33	140					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503423	124503423	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124503423C>A	ENST00000357628.3	-	8	1125	c.527G>T	c.(526-528)gGa>gTa	p.G176V	POT1_ENST00000393329.1_Missense_Mutation_p.G45V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	176					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGATGCTCCGTCCACTTC	0.383000													55	76					1.80625e-27	1.85096e-27	1	1	0
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82764246C>T	ENST00000423517.2	-	3	2957	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R	PCLO_ENST00000333891.8_Missense_Mutation_p.G874R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	820	Pro-rich.				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						GTTGGTGACCCTTTTGGCATT	0.517000													208	210					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368447	45368447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:45368447G>A	ENST00000560629.1	+	9	1218	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	ITGB3_ENST00000435993.2_Missense_Mutation_p.G371E|ITGB3_ENST00000571680.1_Missense_Mutation_p.G418E|ITGB3_ENST00000559488.1_Missense_Mutation_p.G418E			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542000													62	71					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71032987	71032987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:71032987G>A	ENST00000283228.2	-	14	2403	c.1951C>T	c.(1951-1953)Ctt>Ttt	p.L651F	PTPRR_ENST00000378778.1_Missense_Mutation_p.L445F|PTPRR_ENST00000342084.4_Missense_Mutation_p.L539F|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Missense_Mutation_p.L406F|PTPRR_ENST00000440835.2_Missense_Mutation_p.L406F	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	651					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCTGCTGAAAGTCTGCTCTCA	0.443000													87	168					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089921	31089921	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:31089921C>T	ENST00000359202.3	-	1	249	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	50	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGAAGAAGTTCTCCAGGGCCA	0.592000													52	33					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70954990	70954990	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:70954990C>T	ENST00000359655.4	+	7	960	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	300	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGATCCAGCCAGAGGATGGG	0.373000													11	46					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178415981	178415981	+	Missense_Mutation	SNP	C	C	T	rs5019552		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:178415981C>T	ENST00000231188.5	-	6	1487	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.D437N	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	437					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ATCCGCCCATCAGTGGGTTCC	0.627000													29	11					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043865	119043865	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:119043865G>T	ENST00000334464.5	-	5	2618	c.2379C>A	c.(2377-2379)ttC>ttA	p.F793L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	793					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCAAATATTTGAAGTGAATAG	0.378000													18	53					2.94398e-08	2.96722e-08	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117304180	117304180	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117304180C>T	ENST00000321322.6	-	28	5065	c.5064G>A	c.(5062-5064)aaG>aaA	p.K1688K	DSCAML1_ENST00000527706.1_Silent_p.K1418K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1628					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)		CTGCCAAACTCTTTGCATCTG	0.512000													4	29					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195982	131195982	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131195982T>C	ENST00000541194.1	-	2	574	c.317A>G	c.(316-318)aAc>aGc	p.N106S	PODXL_ENST00000378555.3_Missense_Mutation_p.N104S|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.N104S|PODXL_ENST00000322985.9_Missense_Mutation_p.N104S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	104	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACGGTAGTGTTGACTGGGCC	0.577000													66	198					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872105	28872105	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28872105G>A	ENST00000377199.3	-	8	1640	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	428	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGGTCCGCAGGGGTAGGGCAG	0.537000			T	RET	papillary thyroid								47	86					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408568	52408568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52408568C>T	ENST00000293662.4	+	8	853	c.773C>T	c.(772-774)cCc>cTc	p.P258L	GRASP_ENST00000552049.1_Missense_Mutation_p.P115L|GRASP_ENST00000380039.2_Missense_Mutation_p.P115L|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	258	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCTCGCTGCCCTTCGGGCCT	0.741000													5	1					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725232	172725232	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:172725232G>A	ENST00000422440.2	-	3	205	c.168C>T	c.(166-168)atC>atT	p.I56I	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	56					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGAGCTGCACGATCTTTGGGT	0.393000													39	64					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123409	103123409	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103123409C>T	ENST00000428762.1	-	63	10350	c.10191G>A	c.(10189-10191)cgG>cgA	p.R3397R	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Silent_p.R3397R|RELN_ENST00000343529.5_Silent_p.R3397R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3397					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)		CTCCTTTCATCCGTGCCTCCC	0.448000													57	77					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966157	20966157	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20966157C>T	ENST00000261383.3	-	55	11048	c.11049G>A	c.(11047-11049)gaG>gaA	p.E3683E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3683	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTTCTTCTCTCTTGAACAA	0.493000													21	111					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329515	20329515	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20329515G>A	ENST00000302555.5	-	7	1394	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	GP2_ENST00000341642.5_Silent_p.I268I|GP2_ENST00000381360.5_Silent_p.I271I|GP2_ENST00000381362.4_Silent_p.I418I			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	418	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCTGTTTCTGATGATGAAAT	0.458000													19	100					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732182	152732182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152732182C>T	ENST00000368773.1	+	2	176	c.118C>T	c.(118-120)Cct>Tct	p.P40S	KPRP_ENST00000606109.1_Missense_Mutation_p.P40S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	40	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCAAGCCCCTTGTGAGAT	0.577000													63	145					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15267542	15267542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:15267542G>A	ENST00000379554.3	+	13	1742	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	INSC_ENST00000528567.1_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.D477N|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.D519N|INSC_ENST00000530161.1_Missense_Mutation_p.D519N|INSC_ENST00000424273.1_Missense_Mutation_p.D477N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	566					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGGCTGGTGGACTCCTTCTT	0.547000													19	46					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62153757	62153757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:62153757C>T	ENST00000474889.1	+	8	1330	c.953C>T	c.(952-954)tCc>tTc	p.S318F	PTPRG_ENST00000295874.10_Missense_Mutation_p.S318F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	318	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGGGTGGTGTCCAAGTCCGCC	0.507000													27	62					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510431	9510431	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9510431C>T	ENST00000246070.2	+	6	1299	c.807C>T	c.(805-807)atC>atT	p.I269I	LAMP5_ENST00000427562.2_Silent_p.I225I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	269						integral to membrane											AGGTGCAGATCCCTCGGGACA	0.547000													34	52					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517490	75517490	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:75517490G>A	ENST00000318622.4	+	5	1124	c.495G>A	c.(493-495)gtG>gtA	p.V165V	RHBDD2_ENST00000006777.6_Silent_p.V306V|RHBDD2_ENST00000428119.1_Silent_p.V165V|RHBDD2_ENST00000468304.1_3'UTR	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	306						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTGCTATGTGCAGAACCACT	0.662000													80	278					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554710	4554710	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4554710G>A	ENST00000228837.2	-	1	70	c.27C>T	c.(25-27)atC>atT	p.I9I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	9					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GGGACATAGTGATGAACAGTT	0.587000													19	23					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820739	55820739	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820739C>T	ENST00000328314.3	+	1	702	c.702C>T	c.(700-702)gcC>gcT	p.A234A		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAAAAAAAGCCTTTTCAACCT	0.373000													10	23					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110022014	110022014	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:110022014C>T	ENST00000369872.3	+	6	879	c.663C>T	c.(661-663)atC>atT	p.I221I	SYPL2_ENST00000401021.3_Silent_p.I157I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	221	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGGCTTTATCAACTTCTTCC	0.557000													68	104					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150600	14150600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:14150600G>A	ENST00000263379.2	+	4	537	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	138	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCTGACGTGGACTTTTCCGA	0.602000													11	74					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58390196	58390196	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:58390196C>T	ENST00000402135.3	-	10	840	c.804G>A	c.(802-804)ctG>ctA	p.L268L	FANCL_ENST00000403676.1_Silent_p.L146L|FANCL_ENST00000403295.3_Silent_p.L235L|FANCL_ENST00000233741.4_Silent_p.L263L	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	263					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCTTAATTCCCAGGGGTTTTA	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	39					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717191	39717191	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:39717191G>A	ENST00000553728.1	+	4	1626	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	MIA2_ENST00000280082.3_Silent_p.Q471Q|MIA2_ENST00000556784.1_Silent_p.Q470Q																							GGAACTTCCAGAACATTCCAA	0.313000													4	56					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792983	140792983	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140792983C>T	ENST00000398610.2	+	1	241	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTCTCTCTGAACCCGCG	0.622000													62	77					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33966762	33966762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:33966762C>T	ENST00000262325.7	+	11	1973	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.H474Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.H436Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H474Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H417Y|AP2B1_ENST00000537622.2_Missense_Mutation_p.H474Y	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	474					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAGGGTTTTCACGATGAAAG	0.418000													39	67					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190569920	190569920	+	Missense_Mutation	SNP	C	C	T	rs150297860		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:190569920C>T	ENST00000520309.1	+	8	1968	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	ANKAR_ENST00000281412.6_Missense_Mutation_p.P391L|ANKAR_ENST00000438402.2_Missense_Mutation_p.P627L|ANKAR_ENST00000313581.4_Missense_Mutation_p.P627L|ANKAR_ENST00000431575.2_Missense_Mutation_p.P556L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	627						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGGAAGGATCCTAGTTTGCTA	0.393000													58	96					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231741	29231741	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29231741C>T	ENST00000441381.1	+	0	212																											GACCATATTTCCCATCAAAGA	0.423000													53	91					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696830	117696830	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117696830C>T	ENST00000317775.6	-	15	3158		c.e15+1		NOS1_ENST00000338101.4_Splice_Site|NOS1_ENST00000344089.3_Splice_Site	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)						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)	GCTCATCTCACCTCCCCATTC	0.488000													19	46					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487587	51487587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:51487587C>T	ENST00000340438.4	+	1	1107	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	289					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTTAGATGCCCCTGGCCACAA	0.443000													104	34					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39178409	39178409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39178409G>A	ENST00000301819.6	+	24	3316	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.E1046K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E998K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1046							binding	p.E1047K(1)		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)		GCAGCCCAACGAAGCCTTAAA	0.532000													47	118					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981924	61981924	+	Missense_Mutation	SNP	G	G	A	rs121909580		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:61981924G>A	ENST00000370263.4	-	5	1060	c.839C>T	c.(838-840)tCc>tTc	p.S280F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	280			S -> F (in ENFL1).|S -> L (in ENFL1).		B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CAGCAGCACGGAGATGCACAG	0.592000													34	75					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	292007	292007	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:292007T>A	ENST00000409548.2	+	5	1053	c.938T>A	c.(937-939)tTc>tAc	p.F313Y	ATHL1_ENST00000409655.1_Missense_Mutation_p.F136Y|ATHL1_ENST00000409479.1_Missense_Mutation_p.F313Y	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	313					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTGATGTTCCACCCAGAA	0.657000													6	10					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374611	163374611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:163374611G>A	ENST00000332142.5	-	4	620	c.521C>T	c.(520-522)tCc>tTc	p.S174F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S174F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	174					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGTGGTAAGGACTGCTTTCT	0.403000													24	54					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24586911	24586911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24586911C>T	ENST00000446197.3	+	5	1173	c.446C>T	c.(445-447)tCc>tTc	p.S149F	DCAF11_ENST00000396936.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.S149F|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Missense_Mutation_p.S123F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	149						CUL4 RING ubiquitin ligase complex	protein binding										GGAAGCTTCTCCCTTGGAGAA	0.498000													39	23					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916465	10916465	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10916465A>G	ENST00000298232.7	-	19	1494	c.1127T>C	c.(1126-1128)gTt>gCt	p.V376A	TPTE_ENST00000342420.5_Missense_Mutation_p.V356A|TPTE_ENST00000361285.4_Missense_Mutation_p.V394A|TPTE_ENST00000415664.2_Intron	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	394	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAATATGCAACATATCTCTT	0.338000													7	64					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97424050	97424050	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:97424050C>T	ENST00000369261.4	+	3	564	c.201C>T	c.(199-201)ttC>ttT	p.F67F	KLHL32_ENST00000536676.1_Silent_p.F67F|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Silent_p.F67F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	67	BTB.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTGACTATTTCCGGGTAAGTC	0.453000													35	74					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106739478	106739478	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:106739478T>C	ENST00000283148.7	-	9	804	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	UXS1_ENST00000428048.2_Missense_Mutation_p.Y75C|UXS1_ENST00000540130.1_Missense_Mutation_p.Y174C|UXS1_ENST00000409501.3_Missense_Mutation_p.Y231C|UXS1_ENST00000409032.1_Missense_Mutation_p.Y63C	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	231					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GCCTTCATCGTAGCAGGCCCG	0.517000													30	81					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854635	18854635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:18854635C>T	ENST00000447925.2	-	8	1203	c.934G>A	c.(934-936)Gat>Aat	p.D312N	PLCZ1_ENST00000541695.1_Missense_Mutation_p.D177N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.D119N|PLCZ1_ENST00000539875.1_Missense_Mutation_p.D121N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.D314N|PLCZ1_ENST00000538330.1_Missense_Mutation_p.D55N	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	314					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCACGCTTATCAGAACCTTTT	0.413000													10	25					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598123	49598123	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:49598123G>A	ENST00000527477.1	+	0	727																											CTAGAGCAGAGCATTGAGTTC	0.527000													5	22					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688733	60688733	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:60688733G>A	ENST00000335712.6	-	4	1541	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	BCL11A_ENST00000356842.4_Silent_p.S438S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.S107S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S404S|BCL11A_ENST00000538214.1_Silent_p.S404S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	438					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GACCGTCGTCGGACTTGACCG	0.637000			T	IGH@	B-CLL								33	61					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56651568	56651568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:56651568C>T	ENST00000394672.3	+	14	2342	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S	CCDC66_ENST00000436465.2_Missense_Mutation_p.P758S|CCDC66_ENST00000326595.7_Missense_Mutation_p.P724S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	758										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGGCATTTCACCAGAAATTTT	0.383000													23	37					0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996458	21996458	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21996458G>A	ENST00000306306.3	-	6	1002	c.534C>T	c.(532-534)tcC>tcT	p.S178S	REEP4_ENST00000334530.5_Intron|REEP4_ENST00000523293.1_Silent_p.S178S	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	178						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GCCTCCGGTGGGACACCTGGT	0.662000													16	16					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102198822	102198822	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102198822C>T	ENST00000263464.3	+	4	3743	c.993C>T	c.(991-993)atC>atT	p.I331I	BIRC3_ENST00000532808.1_Silent_p.I331I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	331					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGGAGTTCATCCGTCAAGTTC	0.318000			T	MALT1	MALT								12	40					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672703	151672703	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:151672703C>T	ENST00000402676.2	+	4	3417	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T	AKAP12_ENST00000253332.1_Silent_p.T1059T|AKAP12_ENST00000354675.6_Silent_p.T961T|AKAP12_ENST00000359755.5_Silent_p.T954T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1059					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCCTGGCACCGGTGGGCCAG	0.557000													17	29					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859576	131859576	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131859576G>A	ENST00000359827.3	-	21	4940	c.3978C>T	c.(3976-3978)ttC>ttT	p.F1326F	PLXNA4_ENST00000321063.4_Silent_p.F1326F			Q9HCM2	PLXA4_HUMAN	plexin A4	1326						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						CAATTCCTGGGAACAGCACCC	0.562000													57	188					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117678055	117678055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117678055G>A	ENST00000368508.3	-	25	4076	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1288F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1293					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCAAAATTGGAAACTTCTGT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								18	41					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48923137	48923137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:48923137G>A	ENST00000267163.4	+	6	723	c.585G>A	c.(583-585)tgG>tgA	p.W195*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	195					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.W195*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTTTCTTGGATCACATTTT	0.264000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			40	29					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32829755	32829755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:32829755G>A	ENST00000397452.1	-	10	1039	c.929C>T	c.(928-930)tCc>tTc	p.S310F	BPIFC_ENST00000432451.2_Missense_Mutation_p.S124F|BPIFC_ENST00000300399.3_Missense_Mutation_p.S310F|BPIFC_ENST00000534972.1_Missense_Mutation_p.S34F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	310						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAATGGTTGGAAATCTGGAA	0.403000													14	35					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964189	38964189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38964189G>A	ENST00000355481.4	+	28	4069	c.3938G>A	c.(3937-3939)gGc>gAc	p.G1313D	RYR1_ENST00000360985.3_Missense_Mutation_p.G1313D|RYR1_ENST00000359596.3_Missense_Mutation_p.G1313D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1313	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACCTCCTGGCCTGCAGCCC	0.692000													6	4					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109737	21109737	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21109737G>A	ENST00000320704.3	-	1	113	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TCAGATTCAGGAGATAGACAA	0.483000													44	57					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757847	219757847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219757847G>A	ENST00000258411.3	+	4	1741	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	370					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCCGGCTCGGATGGCTGCGG	0.687000													10	9					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81633859	81633859	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81633859C>T	ENST00000558726.1	-	16	1854	c.1718_splice	c.e16-1	p.W573_splice	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Splice_Site_p.W572_splice			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGCCCCCATCCTGGAACCAT	0.532000													5	9					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175914	51175914	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:51175914G>A	ENST00000251020.4	-	2	252	c.219C>T	c.(217-219)atC>atT	p.I73I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	73					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	p.I73I(1)		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)			TTTCATTTACGATTAAAACTA	0.448000													29	101					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95738935	95738935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:95738935G>A	ENST00000375482.3	+	3	893	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	FGD3_ENST00000337352.6_Missense_Mutation_p.E133K|FGD3_ENST00000416701.2_Missense_Mutation_p.E133K|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	133					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGTGGGTGAGGAACCTGACTC	0.672000													14	10					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72959173	72959173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72959173C>T	ENST00000425042.2	-	4	468	c.391G>A	c.(391-393)Gga>Aga	p.G131R	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		TCCTCTTCTCCCTGCTGGGGA	0.657000													8	11					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082893	11082893	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11082893G>A	ENST00000304623.8	-	16	2892	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	CTNND2_ENST00000458100.2_Silent_p.L468L|CTNND2_ENST00000359640.2_Silent_p.L843L|CTNND2_ENST00000511377.1_Silent_p.L810L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L564L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	901					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						TGTCTATTCGGAGCAGCTCCA	0.552000													13	66					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10427798	10427798	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:10427798C>T	ENST00000317552.4	-	8	1735	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	MID1_ENST00000380785.1_Silent_p.Q445Q|MID1_ENST00000380787.1_Silent_p.Q445Q|MID1_ENST00000453318.2_Silent_p.Q445Q|MID1_ENST00000380779.1_Silent_p.Q445Q|MID1_ENST00000380780.1_Silent_p.Q445Q|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Silent_p.Q445Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	445	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTAGTGGTTCTGCTTGATGT	0.542000													142	38					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057883	152057883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152057883C>T	ENST00000368806.1	-	3	2339	c.2275G>A	c.(2275-2277)Ggt>Agt	p.G759S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	759							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTTGGTCACCACCTTCTCCT	0.478000													57	84					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990124	42990124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:42990124C>T	ENST00000378661.2	-	1	1277	c.1196G>A	c.(1195-1197)aGg>aAg	p.R399K		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	399					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCCGCCTTCCTAGAGGCCTC	0.687000													20	67					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43649275	43649275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43649275C>T	ENST00000372492.4	+	4	812	c.488C>T	c.(487-489)cCa>cTa	p.P163L	WDR65_ENST00000528956.1_Missense_Mutation_p.P163L	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	163										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCTTCAGTCCACAGGATAAC	0.368000													17	38					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161127554	161127554	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161127554G>A	ENST00000308192.9	+	2	228	c.165G>A	c.(163-165)gaG>gaA	p.E55E	PLG_ENST00000366924.2_Silent_p.E55E|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	55	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATGTGAGGAGGACGAAGAAT	0.423000													50	94					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287665	79287665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:79287665G>A	ENST00000332900.1	-	3	725	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	59						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCGAGGTGGGGACCCCTGGGG	0.627000													71	119					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117462070	117462070	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117462070C>T	ENST00000455858.2	+	9	1361	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	FBXW8_ENST00000309909.5_Silent_p.L496L	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	496							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGAGGAAGGCCTGGTGTCCGT	0.562000													31	59					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46620721	46620721	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46620721G>A	ENST00000296145.5	+	3	821		c.e3-1		LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Splice_Site	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTGTCGTTAAGGGCTGGGCCA	0.488000													22	35					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280808	105280808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105280808G>A	ENST00000327674.4	-	1	577	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SERPINA7_ENST00000372563.1_Missense_Mutation_p.S81F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCCCAAAGGAAAGCATAAC	0.498000													41	7					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190597928	190597928	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:190597928C>T	ENST00000520309.1	+	17	3484	c.3396C>T	c.(3394-3396)gtC>gtT	p.V1132V	ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.V1061V|ANKAR_ENST00000313581.4_Silent_p.V1132V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1132						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGCTGATGTCCTTTATCTTC	0.323000													13	28					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971740	96971740	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96971740C>T	ENST00000341686.3	+	6	986	c.861C>T	c.(859-861)gcC>gcT	p.A287A	C10orf129_ENST00000430183.1_Silent_p.A132A|C10orf129_ENST00000394005.3_Silent_p.A287A	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	287					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TCCAAGGAGCCTGTGTGTTTC	0.498000													14	56					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21868069	21868069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:21868069G>A	ENST00000541639.1	-	28	4812	c.4525C>T	c.(4525-4527)Cga>Tga	p.R1509*	KDM5D_ENST00000382806.2_Nonsense_Mutation_p.R1421*|KDM5D_ENST00000317961.4_Nonsense_Mutation_p.R1478*	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1478					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TCTTCTTCTCGGCCCACCTGA	0.473000													2	2					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724826	39724826	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39724826C>T	ENST00000246662.4	-	5	1169	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	KRT9_ENST00000588431.1_Silent_p.K135K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	368	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GGGTCACCTCCTTGGCACTGG	0.547000													182	420					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45681379	45681379	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:45681379G>T	ENST00000322157.4	+	16	2076	c.1839G>T	c.(1837-1839)gtG>gtT	p.V613V	NPEPPS_ENST00000530173.1_Silent_p.V609V|NPEPPS_ENST00000544660.1_Silent_p.V533V|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	613					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGCCCCCTGTGGATCGACTTG	0.428000													33	49					7.63091e-17	7.73441e-17	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46430162	46430162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:46430162G>A	ENST00000458649.2	-	17	3722	c.3304C>T	c.(3304-3306)Cag>Tag	p.Q1102*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q1042*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q983*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q1073*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q1012*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q1073*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q1042*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1102					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGGTGCCCTGAGATGTCACT	0.612000													25	29					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70590141	70590141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70590141G>A	ENST00000302516.5	+	14	1981	c.1770G>A	c.(1768-1770)atG>atA	p.M590I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	590					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGTGTGCATGAGTCTGGCCA	0.537000													35	149					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196748950	196748950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:196748950G>A	ENST00000471440.2	+	3	351	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CFHR3_ENST00000367425.4_Missense_Mutation_p.E93K|CFHR3_ENST00000391985.3_Missense_Mutation_p.E93K					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCCTTATTTGGAAAATGGATA	0.318000													9	12					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700579	7700579	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:7700579G>A	ENST00000303635.7	+	7	837	c.630G>A	c.(628-630)acG>acA	p.T210T	CAMTA1_ENST00000439411.2_Silent_p.T210T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGAAATGGACGAAAGAAGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								56	66					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250409	177250409	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177250409C>T	ENST00000361539.4	+	8	2409	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		699						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTATCCGGGACTTAATTCTCC	0.493000													75	108					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698694	187698694	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187698694G>A	ENST00000295131.2	-	6	846	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	269					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)			TAAACGTGTGGGAAAGATGGC	0.358000													21	39					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493449	60493449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60493449G>A	ENST00000450662.2	+	12	1303	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	EFCAB3_ENST00000305286.3_Missense_Mutation_p.G359E	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	359							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGATCCGAGGGGATTTGATT	0.423000													60	61					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129134240	129134240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:129134240C>T	ENST00000505956.1	-	4	848	c.686G>A	c.(685-687)gGa>gAa	p.G229E	EFCAB12_ENST00000326085.3_Missense_Mutation_p.G229E	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CAGAGGGACTCCGACCTGAGG	0.537000													14	16					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219126	1219126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:1219126G>A	ENST00000304460.10	+	9	1338	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	428					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)			CTTCTGCCTGGGGCTGTCATC	0.587000													19	20					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138619174	138619174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:138619174C>T	ENST00000218099.2	+	2	101	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	F9_ENST00000394090.2_Missense_Mutation_p.L32F|F9_ENST00000479617.1_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	32					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTCAGTTTTTCTTGATCATGA	0.294000													36	30					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:75036823G>A	ENST00000326665.5	-	14	4789	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1524										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						GTTGTTGGGGGAAACATCTGC	0.512000													28	136					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692287	6692287	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6692287G>A	ENST00000309577.6	-	26	4300	c.4137C>T	c.(4135-4137)ctC>ctT	p.L1379L	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.L1376L|CHD4_ENST00000544040.1_Intron|CHD4_ENST00000540960.1_Intron|CHD4_ENST00000357008.2_Intron			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1353					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AATCTGGAGGGAGAGAGGGCA	0.607000													52	71					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17072992	17072992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:17072992C>T	ENST00000357277.3	+	8	1204	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y	REPS2_ENST00000380064.4_Missense_Mutation_p.H205Y|REPS2_ENST00000303843.7_Missense_Mutation_p.H344Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	345	EF-hand.|EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TGCTGCGTTTCATCTCATTGT	0.537000													48	13					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855890	100855890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100855890G>A	ENST00000223127.3	-	9	1324	c.926C>T	c.(925-927)cCg>cTg	p.P309L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	309					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGCAGAAACGGAGTAGGCTG	0.617000													25	75					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716920	153716920	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153716920C>A	ENST00000263512.4	-	2	858	c.360G>T	c.(358-360)gtG>gtT	p.V120V	SLC10A3_ENST00000393587.4_Silent_p.V120V|SLC10A3_ENST00000393586.1_Silent_p.V175V|SLC10A3_ENST00000369649.4_Intron	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	120					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTATAGCACTCACGTTCTTGA	0.642000													40	20					7.63091e-17	7.73441e-17	1	1	0
STK26	51765	broad.mit.edu	37	X	131202291	131202291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:131202291G>A	ENST00000394334.2	+	5	632	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MST4_ENST00000394335.2_Missense_Mutation_p.E50K|MST4_ENST00000481105.1_Missense_Mutation_p.E149K|MST4_ENST00000354719.6_Missense_Mutation_p.E127K|MST4_ENST00000496850.1_Missense_Mutation_p.E127K	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		127	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CATGCTAAAGGAAATTTTAAA	0.358000													40	19					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161032	67161032	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67161032C>T	ENST00000307980.2	+	4	393	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	100			S -> A (in dbSNP:rs2066492).		DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTGCATCTCCCTGAATGGCC	0.602000								Other conserved DNA damage response genes					11	65					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620698	131620698	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:131620698A>G	ENST00000261654.5	+	22	2943	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.N314S|GPR133_ENST00000535015.1_Missense_Mutation_p.N827S|GPR133_ENST00000376682.4_Missense_Mutation_p.N481S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	795					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)		GCCACGCTCAACTCCCTGCAG	0.652000													13	31					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166226664	166226664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166226664G>A	ENST00000357398.3	+	20	3994	c.3704G>A	c.(3703-3705)cGa>cAa	p.R1235Q	SCN2A_ENST00000375437.2_Missense_Mutation_p.R1235Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1235Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1235Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1235					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)	ATTGAGCAGCGAAAAACCATT	0.318000													28	48					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968362	89968362	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89968362G>A	ENST00000405460.2	+	22	4848		c.e22-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						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)		TTCAATTTCAGATTGCAGAGG	0.348000													6	30					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71017139	71017139	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:71017139C>A	ENST00000354624.5	+	14	2122	c.1989C>A	c.(1987-1989)acC>acA	p.T663T	HKDC1_ENST00000395086.2_Silent_p.T663T	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	663					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCATGATGACCTGTGGCTATG	0.438000													44	111					3.4597e-24	3.53469e-24	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40131848	40131848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40131848C>T	ENST00000235628.1	-	2	195	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	66					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCTCCTCGTCCATGCGA	0.582000													48	55					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112655733	112655733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:112655733C>T	ENST00000393104.2	+	12	1564	c.1204C>T	c.(1204-1206)Ccg>Tcg	p.P402S	PDCD4_ENST00000280154.7_Missense_Mutation_p.P413S	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	413	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAATGAAATTCCGGACATTAA	0.353000													27	40					0	0	1	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448725	142448725	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142448725C>T	ENST00000422143.2	+	0	386																											CAGCATATATCTCTGCAGCGT	0.517000													18	20					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38829439	38829439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:38829439C>T	ENST00000310301.4	-	10	800	c.746G>A	c.(745-747)aGt>aAt	p.S249N	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S224N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	249					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTCATTTCACTGGCATGCCG	0.363000													45	80					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141186	114141186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:114141186G>A	ENST00000371950.3	+	6	1214	c.490G>A	c.(490-492)Gga>Aga	p.G164R	HTR2C_ENST00000371951.1_Silent_p.R195R|HTR2C_ENST00000276198.1_Silent_p.R195R	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGGACTGAGGGACGAAGAAA	0.458000													77	26					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1024696	1024696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:1024696G>A	ENST00000340150.6	+	3	302	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CYP2W1_ENST00000308919.7_Missense_Mutation_p.E150K			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	150					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GATTCTGCAGGAGCTGAAATG	0.706000													14	17					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150257024	150257024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150257024C>T	ENST00000290363.5	+	4	988	c.539C>T	c.(538-540)aCc>aTc	p.T180I	C1orf51_ENST00000369094.1_Missense_Mutation_p.T92I|C1orf51_ENST00000369095.1_Missense_Mutation_p.T180I|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	180										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCTAGGAACCTTGCTACAG	0.443000													39	43					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29052749	29052749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:29052749C>T	ENST00000257189.4	+	14	2182	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	700					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGGAAAGTTCTGGTAAGTGG	0.318000													15	38					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243537	56243537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56243537C>T	ENST00000332836.2	-	2	1687	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	554						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTTTTTCCTGAGTTTCA	0.348000													16	34					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335399	90335399	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:90335399G>A	ENST00000300060.6	-	18	2833	c.2520C>T	c.(2518-2520)atC>atT	p.I840I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	840	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACCTGTTCAGGATCCACAACT	0.617000													40	69					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179297444	179297444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:179297444G>A	ENST00000356834.3	-	16	2573	c.2536C>T	c.(2536-2538)Cgt>Tgt	p.R846C	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R22C|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R4C|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R846C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	846						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTCCCGACGGCCGGCCATT	0.662000													17	33					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11727549	11727549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11727549G>A	ENST00000263834.5	+	10	1628	c.1201G>A	c.(1201-1203)Gca>Aca	p.A401T	GREB1_ENST00000234142.5_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000381483.2_Intron	NM_148903.2	NP_683701.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ccttggtccggcagaacctgc	0.512000													28	40					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888766	86888766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:86888766G>A	ENST00000373119.4	+	8	1712	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G523R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	523						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACTCTTGAAGGACCAATGTA	0.403000													28	11					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653886	69653886	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:69653886G>A	ENST00000370598.1	+	6	2016	c.1195_splice	c.e6+1	p.V399_splice		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	399					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTTGCCCAGGTGAGCCTAT	0.403000													19	74					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43768301	43768301	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:43768301C>T	ENST00000405006.4	-	21	3612	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	THADA_ENST00000415080.2_Silent_p.E797E|THADA_ENST00000405975.2_Silent_p.E1087E|THADA_ENST00000330266.7_Silent_p.E797E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1087							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCTTACCTGCTCCACCGTCA	0.383000													20	23					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891482	102891482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:102891482G>A	ENST00000359520.7	+	6	1031	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.E269K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	269							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGCCTTTTGAACTGCACCC	0.547000													29	24					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109170	64109170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64109170G>A	ENST00000356786.5	+	7	675	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	211					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCCTGATGGGGACACTGTC	0.692000													9	22					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802848	185802848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:185802848G>A	ENST00000302277.6	+	4	3319	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	909						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						TGAATTGTCAGATGTTTCCAA	0.413000													30	50					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249843	177249843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177249843G>A	ENST00000361539.4	+	8	1843	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		511						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGACTTGCAGGACCTGGAGCT	0.592000													24	57					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:36049520C>T	ENST00000282507.3	-	4	415	c.314G>A	c.(313-315)gGa>gAa	p.G105E	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.G71E|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	105						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)			TTCAAATTTTCCTCTGTAAGA	0.284000													4	16					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944101	144944101	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144944101A>G	ENST00000525985.1	-	2	3392	c.3321T>C	c.(3319-3321)acT>acC	p.T1107T				P58107	EPIPL_HUMAN	epiplakin 1	1107						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGGCCAGAAGTCTCATCCC	0.672000													9	23					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584311	101584311	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101584311G>A	ENST00000536262.2	-	6	1326	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	256					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						TGACACCGTAGATGCTGGTCC	0.383000													43	90					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41164368	41164368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:41164368C>T	ENST00000379845.3	-	1	141	c.9G>A	c.(7-9)tgG>tgA	p.W3*	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TGGGGTTTCCCCATCCCATCA	0.592000													8	15					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483884	88483884	+	Silent	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:88483884C>A	ENST00000394480.1	-	15	2007	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P	NTRK3_ENST00000557856.1_Silent_p.P554P|NTRK3_ENST00000558676.1_Silent_p.P554P|NTRK3_ENST00000542733.2_Silent_p.P464P|NTRK3_ENST00000360948.2_Silent_p.P562P|NTRK3_ENST00000355254.2_Silent_p.P562P|NTRK3_ENST00000357724.2_Silent_p.P554P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	562	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCTTGGTCGGGCTGAGGT	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			50	112					3.28156e-27	3.36052e-27	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49897956	49897956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49897956C>T	ENST00000477224.1	-	9	1280	c.802G>A	c.(802-804)Gag>Aag	p.E268K	CAMKV_ENST00000466940.1_Missense_Mutation_p.E225K|CAMKV_ENST00000467248.1_Missense_Mutation_p.E193K|CAMKV_ENST00000463537.1_Missense_Mutation_p.E268K|CAMKV_ENST00000296471.7_Missense_Mutation_p.E240K|CAMKV_ENST00000488336.1_Missense_Mutation_p.E268K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	268	Protein kinase.					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)		TGCTCCACCTCCATCAGCCTT	0.582000													8	27					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87012829	87012829	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:87012829C>T	ENST00000370563.3	+	1	69	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	9						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTTTTGTTTTCCTCTTAGTTC	0.368000													29	94					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846451	43846451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43846451C>T	ENST00000389420.3	-	13	1807	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R603Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	603	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTACATGATCGAAATTTCAT	0.398000													8	20					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892268	101892268	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101892268C>T	ENST00000360264.3	+	24	4517	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	CUX1_ENST00000556210.1_Silent_p.I1330I|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.I1386I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.I1432I|CUX1_ENST00000549414.2_Silent_p.I1466I|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.I1488I|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1488					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACAGCATCATCCACCGCCTGG	0.711000													9	18					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13541953	13541953	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:13541953C>T	ENST00000341083.3	-	3	413	c.117G>A	c.(115-117)ctG>ctA	p.L39L	BEND7_ENST00000396900.2_Silent_p.L91L|BEND7_ENST00000396898.2_Silent_p.L91L|BEND7_ENST00000378605.3_Silent_p.L39L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	91							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGACTAAATCCAGGTCCTGGG	0.537000													24	55					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172390029	172390029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:172390029G>A	ENST00000367727.4	+	1	202	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000460397.2_Missense_Mutation_p.E2K	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	2										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGAAAGATGGAAAAAAGAGA	0.423000													10	19					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958878	129958878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:129958878C>T	ENST00000259351.5	+	13	1430	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	388					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCTGACCTCCTCCTCTGCT	0.602000													61	39					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489957	237489957	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237489957C>T	ENST00000272928.3	+	2	1159	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TGCACTACATCCCTTTCACCT	0.602000													58	139					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620599	10620599	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:10620599G>A	ENST00000254958.5	-	26	3719	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F	JAG1_ENST00000423891.2_Silent_p.F909F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1068					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGGGAACAAGGAAATCTGTAA	0.507000									Alagille Syndrome				11	25					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001429	52001429	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52001429C>T	ENST00000291707.3	-	5	1303	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	SIGLEC12_ENST00000598614.1_Silent_p.G298G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	416	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTCAGGCTCCCCCAGGTCC	0.622000													31	60					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52343948	52343948	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:52343948G>A	ENST00000354831.7	-	1	529	c.341_splice	c.e1+1	p.R114_splice	NRD1_ENST00000352171.7_Splice_Site_p.R114_splice|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	114					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCCCTCACCGGTATTGCTTG	0.587000													23	45					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60470047	60470047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:60470047G>A	ENST00000360469.5	+	8	1220	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	CDH4_ENST00000543233.1_Missense_Mutation_p.A304T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	378	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGCCACAGCCATCATCAC	0.542000													121	214					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623831	48623831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48623831C>T	ENST00000328333.8	-	26	3591	c.3484G>A	c.(3484-3486)Gtt>Att	p.V1162I	COL7A1_ENST00000454817.1_Missense_Mutation_p.V1162I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1162	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTAGCAGAACCATCACCCCT	0.582000													116	186					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23718360	23718360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23718360G>A	ENST00000256797.4	-	5	659	c.491C>T	c.(490-492)cCc>cTc	p.P164L	ERN2_ENST00000457008.2_Missense_Mutation_p.P116L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	116					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCGGCAGGGAGAGGCATG	0.552000													33	44					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193053	42193053	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:42193053C>T	ENST00000220325.4	-	6	1499	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	472	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCACCATCTCCTTCTTGGCGT	0.582000													30	59					0	0	1	0	0
RMST	196475	broad.mit.edu	37	12	97957657	97957657	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:97957657G>A	ENST00000538559.2	+	0	2141				MIR135A2_ENST00000384854.1_RNA																							CTCATGTAGGGATGGAAGCCA	0.378000													5	13					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10442697	10442697	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10442697G>A	ENST00000397077.1	-	7	1296	c.721C>T	c.(721-723)Cta>Tta	p.L241L	ATP2B2_ENST00000383800.4_Silent_p.L241L|ATP2B2_ENST00000352432.4_Silent_p.L241L|ATP2B2_ENST00000343816.4_Silent_p.L241L|ATP2B2_ENST00000360273.2_Silent_p.L241L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	241					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCTCCAGTTAGGGAGCTTTCA	0.597000													30	72					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70991093	70991093	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:70991093G>C	ENST00000357250.6	-	8	1034	c.876_splice	c.e8+1	p.D292_splice	COL9A1_ENST00000370496.3_Splice_Site_p.D292_splice|COL9A1_ENST00000370499.4_Splice_Site_p.D49_splice|COL9A1_ENST00000320755.7_Splice_Site_p.D49_splice	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	292	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGAAACTTACGTCGATGCCAT	0.562000													9	29					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362950	175362950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:175362950G>A	ENST00000367674.1	-	6	2030	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TNR_ENST00000263525.2_Missense_Mutation_p.S441F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	441	Fibronectin type-III 2.				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)					CCCATCGAAGGAAAATGAGAA	0.458000													99	201					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89559543	89559543	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:89559543C>T	ENST00000369485.4	-	10	1221	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	RNGTT_ENST00000265607.6_Silent_p.E345E|RNGTT_ENST00000369475.3_Silent_p.E345E|RNGTT_ENST00000538899.1_Silent_p.E285E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	345	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CAATAATCATCTCCTTGAAAG	0.259000													31	38					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003322	52003322	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52003322G>A	ENST00000291707.3	-	2	715	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SIGLEC12_ENST00000598614.1_Silent_p.F102F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	220	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAAGGAGGAGGAATCGACCGT	0.537000													56	91					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976365	166976365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:166976365G>A	ENST00000061240.2	+	13	2309	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TLL1_ENST00000507499.1_Missense_Mutation_p.M577I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	554	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTGTGGATGAAGTTTGTTT	0.358000													15	63					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891536	132891536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:132891536C>T	ENST00000275198.1	+	1	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	26						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTGAAAATCCCCTTCTCGCC	0.507000													51	64					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105701	233105701	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:233105701A>G	ENST00000366627.4	+	4	412	c.341A>G	c.(340-342)gAg>gGg	p.E114G	NTPCR_ENST00000366628.4_Missense_Mutation_p.E114G|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	114							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTCATCGATGAGATTGGGAAG	0.502000													41	69					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551756	39551756	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39551756C>T	ENST00000251645.2	-	4	760	c.708G>A	c.(706-708)gtG>gtA	p.V236V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	236	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTTGGTTTCCACCAGGGCCT	0.632000													38	85					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2186140	2186140	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:2186140C>T	ENST00000382203.1	+	32	4715	c.4506C>T	c.(4504-4506)gcC>gcT	p.A1502A	SMARCA2_ENST00000302401.3_Silent_p.A190A|SMARCA2_ENST00000357248.2_Silent_p.A1484A|SMARCA2_ENST00000382186.1_Silent_p.A166A|SMARCA2_ENST00000349721.2_Silent_p.A1502A|SMARCA2_ENST00000324954.5_Silent_p.A148A|SMARCA2_ENST00000382185.1_Silent_p.A148A|SMARCA2_ENST00000382194.1_Silent_p.A1484A			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1502					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTAAGAGTGCCCGGCAGAAAA	0.463000													19	105					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652372	121652372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:121652372C>T	ENST00000393386.2	+	12	3683	c.3272C>T	c.(3271-3273)tCc>tTc	p.S1091F	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1091					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTCTGTTTCCATTTCTAGC	0.388000													31	77					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156145008	156145008	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156145008C>T	ENST00000368285.3	+	13	1833	c.1566C>T	c.(1564-1566)acC>acT	p.T522T	SEMA4A_ENST00000368286.2_Silent_p.T390T|SEMA4A_ENST00000355014.2_Silent_p.T522T|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.T522T|SEMA4A_ENST00000368284.1_Silent_p.T390T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	522	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTCCCGAACCTGTTGCCTCC	0.617000													142	304					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986417	51986417	+	Silent	SNP	C	C	T	rs61746192		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51986417C>T	ENST00000396477.4	+	4	841	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	CEACAM18_ENST00000451626.1_Silent_p.L335L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	335						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)		TGGCTCCCTCCTGAACTTCTC	0.527000													69	103					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624117	154624117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154624117G>A	ENST00000260010.6	+	1	1466	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	20					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)				CCTCTCCAAGGAAGAATCCTC	0.478000													34	48					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26655809	26655809	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:26655809C>T	ENST00000256737.3	+	19	2784	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ANO3_ENST00000537978.1_Silent_p.F628F|ANO3_ENST00000525139.1_Silent_p.F628F|ANO3_ENST00000531568.1_Silent_p.F498F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	644						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTCCTCTTCCAGTTTGTCA	0.403000													6	27					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18853836	18853836	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18853836G>A	ENST00000338797.6	+	2	268	c.243_splice	c.e2+1	p.Q81_splice	CRTC1_ENST00000321949.8_Splice_Site_p.Q81_splice|CRTC1_ENST00000601916.1_Splice_Site_p.Q6_splice|CRTC1_ENST00000594658.1_Splice_Site_p.Q40_splice	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	81					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGCCCTTCCAGGTGAGTGCCC	0.657000													19	29					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155086	98155086	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:98155086G>A	ENST00000357947.3	-	13	1809	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	528	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCTCTTCCGTGGGGCCATCCC	0.517000													26	57					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6942649	6942649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:6942649C>T	ENST00000383032.1	+	13	1590	c.943C>T	c.(943-945)Cct>Tct	p.P315S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P315S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P315S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	315					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACAGCAGTTTCCTTTTCATTC	0.373000													21	34					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422421	26422421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26422421G>A	ENST00000335473.7	+	43	6731	c.6481G>A	c.(6481-6483)Gag>Aag	p.E2161K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2161K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2162K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2161						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						GATAAACGAAGAGGCTGGGGA	0.512000													79	199					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630148	32630148	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32630148G>A	ENST00000242310.4	-	1	5519	c.5430C>T	c.(5428-5430)ccC>ccT	p.P1810P		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1810			P -> L (in dbSNP:rs56342342).		male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGCATGAAGGGTTGTTTGG	0.493000													15	54					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946454	144946454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144946454G>A	ENST00000525985.1	-	2	1039	c.968C>T	c.(967-969)gCt>gTt	p.A323V				P58107	EPIPL_HUMAN	epiplakin 1	323						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGGTGGCAGCCTGGGCCTC	0.662000													38	72					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557983	60557983	+	Missense_Mutation	SNP	G	G	A	rs149409172		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60557983G>A	ENST00000308287.1	+	2	271	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	59						integral to membrane	receptor activity	p.E59K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCTTCTTAAGGAGCTGGGGGT	0.622000													15	23					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795612	54795612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54795612G>A	ENST00000293379.4	-	22	2515	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	752					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGAGATGAGGGACTGTAAAC	0.552000													21	49					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74695192	74695192	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:74695192G>A	ENST00000380494.5	-	12	1808	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	COL4A3BP_ENST00000405807.4_Silent_p.S377S|COL4A3BP_ENST00000261415.7_Intron	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	377	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGAAGACATGGAGGAAGAGC	0.433000													19	19					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873897	21873897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21873897G>A	ENST00000399982.2	-	14	3098	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	CHD8_ENST00000557364.1_Missense_Mutation_p.L1012F|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.L733F	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1012					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTGTCTTGAGATCCCCAAAG	0.413000													13	183					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42275549	42275549	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:42275549A>C	ENST00000379310.3	-	28	3411	c.3343T>G	c.(3343-3345)Tgt>Ggt	p.C1115G		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GCAATGTCACAGATTATATTA	0.328000													46	26					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844600	128844600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:128844600G>A	ENST00000310343.9	-	20	2449	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S468F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S468F|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S743F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	817					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTAAAAAGGAAGCACCACT	0.458000													17	59					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995270	74995270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:74995270C>T	ENST00000261978.4	-	12	2670	c.2284G>A	c.(2284-2286)Ggg>Agg	p.G762R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G762R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	762					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGCCCCGCTGCTCCTC	0.677000													26	25					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613844	18613844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:18613844G>A	ENST00000330423.3	+	5	1364	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	TUBA8_ENST00000316027.6_Missense_Mutation_p.D365N	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	431					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGGAGAAGGATTATGAAGA	0.458000													43	69					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41164369	41164369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:41164369C>T	ENST00000379845.3	-	1	140	c.8G>A	c.(7-9)tGg>tAg	p.W3*	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GGGGTTTCCCCATCCCATCAC	0.592000													8	15					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845926	24845926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24845926C>T	ENST00000413692.2	+	10	2816	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	NFATC4_ENST00000556759.1_Missense_Mutation_p.S363F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.S860F|NFATC4_ENST00000555393.1_Missense_Mutation_p.S116F|NFATC4_ENST00000555167.1_Missense_Mutation_p.S363F|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.S116F|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.S841F|NFATC4_ENST00000555590.1_Missense_Mutation_p.S841F|NFATC4_ENST00000555453.1_Missense_Mutation_p.S816F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S828F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S816F|NFATC4_ENST00000553879.1_Missense_Mutation_p.S758F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.S758F|NFATC4_ENST00000250373.4_Missense_Mutation_p.S828F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.S758F|NFATC4_ENST00000539237.2_Missense_Mutation_p.S860F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	828					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCTTCCCTTCCCAGAGTGAT	0.642000													13	165					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9204289C>T	ENST00000429566.3	+	1	435	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000													38	38					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57965879	57965879	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57965879C>T	ENST00000455537.2	+	14	1672	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	KIF5A_ENST00000286452.5_Silent_p.V377V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	466					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACGAGAAGGTCCAGCGGGAGC	0.572000													19	30					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666954	167666954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:167666954G>A	ENST00000367854.3	+	6	1424	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E335K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	365										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCCCAAGCAGGAAAAAGGCAA	0.617000													3	12					0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170892152	170892152	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:170892152C>T	ENST00000541970.1	-	3	729	c.651G>A	c.(649-651)ggG>ggA	p.G217G	PDCD2_ENST00000542896.1_Silent_p.G217G|PDCD2_ENST00000537445.1_Silent_p.G184G|PDCD2_ENST00000443345.2_Silent_p.G184G|PDCD2_ENST00000453163.2_Silent_p.G217G|PDCD2_ENST00000392090.2_Silent_p.G184G	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	217					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TACCCATGCTCCCTATAATCT	0.388000													36	66					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623825	9623825	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:9623825C>T	ENST00000310430.6	+	25	3656	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	TNKS_ENST00000518281.1_Silent_p.A973A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1210	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTTTGGGGCCGGGATTTATT	0.408000													47	76					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9871027	9871027	+	Missense_Mutation	SNP	G	G	A	rs141851512	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:9871027G>A	ENST00000383827.1	+	4	3147	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TTLL3_ENST00000455274.1_Missense_Mutation_p.R289Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R562Q|TTLL3_ENST00000426895.4_Missense_Mutation_p.R644Q|TTLL3_ENST00000427853.3_Missense_Mutation_p.R289Q|TTLL3_ENST00000430793.1_Missense_Mutation_p.R289Q|TTLL3_ENST00000547186.1_Missense_Mutation_p.R501Q|TTLL3_ENST00000397241.1_Missense_Mutation_p.R289Q			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	501	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTCATTGACCGGATGCTGGAC	0.607000													46	121					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28605653	28605653	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:28605653G>A	ENST00000253063.3	+	9	1578	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	419					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGAGCGGAACCTCAAGG	0.517000													45	63					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28712022	28712022	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:28712022A>G	ENST00000225719.4	+	2	838	c.762A>G	c.(760-762)ggA>ggG	p.G254G	CPD_ENST00000543464.2_Silent_p.G7G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	254	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGCTTTCTGGAAATCTGCATG	0.363000													100	71					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723688	50723688	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50723688G>A	ENST00000515869.1	-	6	2997	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	PGBD3_ENST00000603152.1_Silent_p.F959F|PGBD3_ENST00000508005.2_Silent_p.F491F|ERCC6-PGBD3_ENST00000447839.2_Silent_p.F959F|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Silent_p.F491F	NM_001277059.1	NP_001263988.1																					AGACCAGTTCGAAACAGAACA	0.418000													45	79					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84697540	84697540	+	Missense_Mutation	SNP	C	C	T	rs148351346	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:84697540C>T	ENST00000284136.6	-	5	599	c.556G>A	c.(556-558)Gat>Aat	p.D186N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.D186N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	186	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTGAGGATCGAAAGGACAT	0.343000													58	61					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85962834	85962834	+	Silent	SNP	C	C	T	rs141693979		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:85962834C>T	ENST00000372117.3	+	8	841	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CDHR1_ENST00000332904.3_Silent_p.F246F|CDHR1_ENST00000440770.2_Silent_p.F5F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	246	Cadherin 2.				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						CCCCTGTCTTCGTGGGCACAC	0.612000													35	78					0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114452426	114452426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:114452426G>A	ENST00000454265.2	-	8	1405	c.547C>T	c.(547-549)Cca>Tca	p.P183S	CAMK2D_ENST00000511664.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.P183S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P183S|CAMK2D_ENST00000429180.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.P183S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000514328.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.P183S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.P183S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.P183S|CAMK2D_ENST00000508738.1_Missense_Mutation_p.P183S|CAMK2D_ENST00000342666.5_Missense_Mutation_p.P183S			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	183	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAAACTTCTGGAGAAAGATAT	0.363000													17	38					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269779	36269779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:36269779G>A	ENST00000394571.2	+	6	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E	PNPLA1_ENST00000388715.3_Missense_Mutation_p.G211E|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G220E	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	306					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGTCTGGAAGGAGCCACACAA	0.587000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	56					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505798	60505798	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:60505798G>A	ENST00000371201.3	-	5	645	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	180							calcium ion binding	p.L180L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCTGACCAGGGCAAGAAGA	0.433000													17	46					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120030	142120030	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142120030G>A	ENST00000390377.1	-	0	136																											TGCATGACTCGAAATTGGATC	0.493000													41	28					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35600415	35600415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:35600415C>T	ENST00000353139.5	-	22	3284	c.2803G>A	c.(2803-2805)Gaa>Aaa	p.E935K	ACACA_ENST00000394406.2_Missense_Mutation_p.E898K|ACACA_ENST00000335166.5_Missense_Mutation_p.E820K|ACACA_ENST00000360679.3_Missense_Mutation_p.E840K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	898					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTTGCAATTCTAGGAGAGGC	0.448000													99	192					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81969214	81969214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:81969214G>A	ENST00000336735.4	-	6	744	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	SEL1L_ENST00000555824.1_Missense_Mutation_p.L210F	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	210	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GCCTTTTGGAGATACCGATAT	0.363000													4	39					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241232	66241232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66241232C>T	ENST00000349459.6	+	6	888	c.604C>T	c.(604-606)Cca>Tca	p.P202S	PELI3_ENST00000524466.1_Missense_Mutation_p.P226S|PELI3_ENST00000320740.7_Missense_Mutation_p.P226S|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	226						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ATGGCGGACCCCAGATGGCCT	0.667000													13	48					0	0	1	0	0
SLBP	7884	broad.mit.edu	37	4	1695353	1695353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:1695353G>A	ENST00000489418.1	-	8	1150	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	SLBP_ENST00000488267.1_Missense_Mutation_p.P227S|SLBP_ENST00000429429.2_Missense_Mutation_p.P223S|SLBP_ENST00000318386.4_Missense_Mutation_p.P269S	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	262					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCTCTCAAGGGTTCAGTTAAA	0.532000											OREG0016036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	52					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6908754	6908754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6908754G>A	ENST00000312053.4	+	10	1130	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	EMR1_ENST00000450315.3_Missense_Mutation_p.E188K|EMR1_ENST00000381404.4_Missense_Mutation_p.E313K|EMR1_ENST00000381407.5_Missense_Mutation_p.E224K|EMR1_ENST00000250572.8_Missense_Mutation_p.E365K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	365	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAAGTGTGTGAAAATAAAAC	0.383000													35	28					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880701	152880701	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:152880701G>A	ENST00000323534.2	+	1	673	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	73					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTACATCAAGAACGGCCAGG	0.612000													86	44					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124096120	124096120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124096120G>A	ENST00000368994.2	+	15	1629	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	BTBD16_ENST00000260723.4_Missense_Mutation_p.D459N|BTBD16_ENST00000495370.2_3'UTR			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	459										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCCCTGGTTGACGGCAAGTG	0.547000													26	43					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601686	61601686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:61601686G>A	ENST00000583023.1	+	2	274	c.263G>A	c.(262-264)gGg>gAg	p.G88E	KCNH6_ENST00000581784.1_Missense_Mutation_p.G88E|KCNH6_ENST00000314672.5_Missense_Mutation_p.G88E|KCNH6_ENST00000456941.2_Missense_Mutation_p.G88E|KCNH6_ENST00000580652.1_Missense_Mutation_p.G88E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	88					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCCTGCTGGGGGCTGAGGAG	0.632000													29	80					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611179	62611179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:62611179C>T	ENST00000281156.4	-	5	859	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	194					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)		TATTCTGATCCCTCTGCCTCT	0.413000													47	79					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475573	74475573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74475573G>A	ENST00000394019.2	-	18	2091	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.S565F|SLC4A5_ENST00000423644.1_Missense_Mutation_p.S565F|SLC4A5_ENST00000359484.4_Missense_Mutation_p.S501F|SLC4A5_ENST00000377634.4_Missense_Mutation_p.S565F|SLC4A5_ENST00000358683.4_Missense_Mutation_p.S501F|SLC4A5_ENST00000357822.5_Missense_Mutation_p.S565F|SLC4A5_ENST00000346834.4_Missense_Mutation_p.S565F|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	565						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGAACAAGGAGCCAGCCAT	0.567000													15	29					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88917887	88917887	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:88917887T>C	ENST00000298786.4	+	4	1722	c.1608T>C	c.(1606-1608)agT>agC	p.S536S	FAM35A_ENST00000298784.1_Silent_p.S536S			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	536										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATCTTGGGAGTTATTCATCTA	0.328000													9	19					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409768	69409768	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69409768C>T	ENST00000303714.4	+	16	1651	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	443					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTCTTCCCCCCGGAAGTGGT	0.428000									Familial Infantile Hemangioma				29	69					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15355557	15355557	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:15355557T>C	ENST00000263377.2	-	12	2396	c.2175A>G	c.(2173-2175)tcA>tcG	p.S725S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	725					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTTCTTTTTTGACTTCGGAG	0.567000			T	C15orf55	lethal midline carcinoma of young people								14	151					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503315	51503315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51503315G>A	ENST00000600767.1	-	5	919	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	KLK8_ENST00000391806.2_Missense_Mutation_p.H189Y|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.H144Y|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	144	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGGGTGCAATGATCTGCCAGG	0.592000													17	27					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136957	8136957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8136957C>T	ENST00000600128.1	-	63	8477	c.8063G>A	c.(8062-8064)cGa>cAa	p.R2688Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2688Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2688Q			Q75N90	FBN3_HUMAN	fibrillin 3	2688						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						GGCACTGCGTCGTGGCCGGTC	0.637000													59	58					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857787	131857787	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131857787C>T	ENST00000318080.2	-	14	2064	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	590					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGTTGTAGGCCGACAGGGAGA	0.647000													31	15					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089166	220089166	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:220089166G>A	ENST00000409618.1	-	8	1366	c.927C>T	c.(925-927)atC>atT	p.I309I	ATG9A_ENST00000409422.1_Silent_p.I248I|ATG9A_ENST00000361242.4_Silent_p.I309I|ATG9A_ENST00000396761.2_Silent_p.I309I			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	309					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCATAGAGGATTTGCCATA	0.622000													11	22					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769235	57769235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:57769235C>T	ENST00000371030.2	+	1	3161	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1054						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTACCTCCTCCCCGCCCACT	0.642000													9	24					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500276	71500276	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71500276A>G	ENST00000396073.3	+	6	743	c.462A>G	c.(460-462)caA>caG	p.Q154Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	154					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGAAGCTCAACCCCCTCAGG	0.488000													14	61					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197276	26197276	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:26197276A>T	ENST00000377831.5	-	2	656	c.203T>A	c.(202-204)tTc>tAc	p.F68Y	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.F68Y	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	68					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TAGACGCTGGAATGGCAGTTT	0.632000													54	83					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532914	113532914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113532914G>A	ENST00000257600.3	+	7	1957	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	485					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGCCGCCTGGGAAGATGGAG	0.647000													42	79					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380671	124380671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124380671G>A	ENST00000368909.3	+	41	5102	c.4996G>A	c.(4996-4998)Gat>Aat	p.D1666N	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1666N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1656N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1656N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1038N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1038N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1666	SRCR 13.				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)				AACCGTGTGTGATGACAGCTG	0.607000													134	302					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367296	107367296	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:107367296A>T	ENST00000542196.1	-	1	655	c.613T>A	c.(613-615)Ttg>Atg	p.L205M		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	205					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						AATATGAACAATGTTGTGGCC	0.398000													87	58					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227923018	227923018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:227923018G>A	ENST00000366758.3	-	1	94	c.95C>T	c.(94-96)cCg>cTg	p.P32L	SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.P32L|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	32										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CACTTCCGCCGGAGCGGAAAC	0.716000													10	13					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39977320	39977320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:39977320C>T	ENST00000373257.3	+	4	441	c.350C>T	c.(349-351)cCc>cTc	p.P117L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	117					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCTGGCTTCCCCTCGGACTCC	0.667000													27	32					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57489228	57489228	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57489228A>C	ENST00000371236.2	-	11	1134	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	DAB1_ENST00000439789.2_Missense_Mutation_p.F205V|DAB1_ENST00000414851.2_Missense_Mutation_p.F273V|DAB1_ENST00000371231.1_Missense_Mutation_p.F324V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.F291V|DAB1_ENST00000420954.2_Missense_Mutation_p.F289V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	324					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						GCAGTGCCGAAAGGTACAGAA	0.512000													7	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498037	179498037	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179498037C>T	ENST00000589042.1	-	233	43187	c.42963G>A	c.(42961-42963)gtG>gtA	p.V14321V	TTN_ENST00000460472.2_Silent_p.V5256V|TTN_ENST00000342992.6_Silent_p.V11753V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V5381V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.V12680V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V5448V|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12680							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)			GAGGCTTTTCCACTTTTATTA	0.398000													36	99					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30275462	30275462	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:30275462A>G	ENST00000359358.4	-	4	1561	c.1123T>C	c.(1123-1125)Ttc>Ctc	p.F375L		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	375						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCCAACACGAACAAGAAGTTT	0.403000													23	37					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551755	39551755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39551755C>T	ENST00000251645.2	-	4	761	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	237	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGGTTGGTTTCCACCAGGGCC	0.632000													37	86					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814478	137814478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:137814478C>T	ENST00000409968.1	+	3	806	c.628C>T	c.(628-630)Cct>Tct	p.P210S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P179S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P210S|THSD7B_ENST00000543459.1_Missense_Mutation_p.P69S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATAGCTCCCCCTCTCTTTGG	0.488000													86	198					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78936462	78936462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:78936462G>A	ENST00000545128.1	+	30	4466	c.3928G>A	c.(3928-3930)Gaa>Aaa	p.E1310K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	722					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						AGTGTGCCAGGAAAACTGCCC	0.537000													44	22					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946492	144946492	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144946492G>A	ENST00000525985.1	-	2	1001	c.930C>T	c.(928-930)ctC>ctT	p.L310L				P58107	EPIPL_HUMAN	epiplakin 1	310						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCCATTGGGAGCAGGTGCT	0.672000													41	90					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089355	32089355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:32089355G>A	ENST00000438447.1	+	20	6189	c.5801G>A	c.(5800-5802)cGg>cAg	p.R1934Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1934Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	1934					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGTCACAGCGGCTCCATGTA	0.597000													14	74					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95566440	95566440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:95566440G>A	ENST00000343958.4	-	3	2745	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F	FGD6_ENST00000549499.1_Missense_Mutation_p.S841F|FGD6_ENST00000546711.1_Missense_Mutation_p.S841F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	841					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCTTCATCAGAACTGTTGAT	0.453000													54	88					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31898701	31898701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:31898701C>T	ENST00000373710.1	+	6	851	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SERINC2_ENST00000536384.1_Missense_Mutation_p.S188F|SERINC2_ENST00000536859.1_Missense_Mutation_p.S188F|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.S184F	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	184						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TTTGCGCACTCCTGGAACCAG	0.637000													37	40					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535262	96535262	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96535262C>T	ENST00000371321.3	+	3	529	c.447C>T	c.(445-447)gcC>gcT	p.A149A	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	149					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAGAGGAAGCCCGCTGCCTTG	0.512000													56	126					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327931	104327931	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104327931C>T	ENST00000299767.5	+	5	791	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	203					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATTCCGCCTTCCTTGTAGCAG	0.428000													25	68					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348792	38348792	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38348792C>T	ENST00000273173.4	+	2	655	c.564C>T	c.(562-564)atC>atT	p.I188I	SLC22A14_ENST00000448498.1_Silent_p.I188I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	188						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCACAGATCATGTTCATGG	0.552000													55	112					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477329	180477329	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180477329C>T	ENST00000327705.9	+	4	927	c.696C>T	c.(694-696)ctC>ctT	p.L232L	BTNL9_ENST00000376841.2_Silent_p.L232L|BTNL9_ENST00000515271.1_Silent_p.L163L|BTNL9_ENST00000376842.3_Silent_p.L232L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	232						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGAATCTCCTCTTGAGCC	0.532000													63	48					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434089	10434089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:10434089G>A	ENST00000293677.6	-	4	1042	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	304	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGCATACTGCGGCCGGGGGGC	0.731000													5	2					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249119	22249119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:22249119C>T	ENST00000324559.8	+	7	952	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	212						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						CCATCCTCATCAAGAAACAGA	0.438000													19	69					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74652712	74652712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74652712G>A	ENST00000348227.4	+	10	977	c.889G>A	c.(889-891)Ggt>Agt	p.G297S	WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	297										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACACTGTCATGGTGAGTGTGT	0.597000													57	105					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633223	32633223	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32633223C>T	ENST00000242310.4	-	1	2444	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	785					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTGTCTTGTCCGAATGATCA	0.458000													36	124					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155327174	155327174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:155327174C>T	ENST00000368346.3	-	15	7642	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2330K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2335					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGATATTTTCACTGGGTTCC	0.363000													26	60					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262073	125262073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:125262073G>A	ENST00000431078.1	+	8	1628	c.1264G>A	c.(1264-1266)Ggt>Agt	p.G422S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	422	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)		GAGCCTGGAGGGTGGAATCCT	0.512000													28	64					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773096	34773096	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34773096C>T	ENST00000338074.2	+	7	785	c.624C>T	c.(622-624)tcC>tcT	p.S208S	EPB41L1_ENST00000202028.5_Silent_p.S146S|EPB41L1_ENST00000373941.1_Silent_p.S208S|EPB41L1_ENST00000441639.1_Silent_p.S146S|EPB41L1_ENST00000373946.3_Silent_p.S177S|EPB41L1_ENST00000373950.2_Silent_p.S111S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	208	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			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)					TGCCATGCTCCTTTGTCACGC	0.612000													48	105					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4516634	4516634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4516634C>T	ENST00000301286.3	-	2	207	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	70						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCACCTTTTCCGAAGGTTGC	0.637000													6	0					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119127	72119127	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72119127G>A	ENST00000356056.5	-	42	7913	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	MYO9A_ENST00000424560.1_Silent_p.L2552L|MYO9A_ENST00000444904.1_Silent_p.L2462L|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2481	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTCTTCCAGGAATTTGGTC	0.438000													43	84					0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527505	51527505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51527505G>A	ENST00000594768.1	-	4	540	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	KLK11_ENST00000319720.7_Missense_Mutation_p.R87W|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.R87W|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.R112W	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	119	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GTGGCTGTCCGGGTCTGCTCA	0.587000													28	105					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54429251	54429251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:54429251C>T	ENST00000334206.5	-	6	862	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	CDC20B_ENST00000381375.2_Missense_Mutation_p.R229Q|CDC20B_ENST00000322374.6_Missense_Mutation_p.R229Q|CDC20B_ENST00000296733.1_Missense_Mutation_p.R229Q			Q86Y33	CD20B_HUMAN	cell division cycle 20B	229										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTAGTCATTTCGAAGACCAGT	0.343000													11	54					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210329	65210329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:65210329G>A	ENST00000247226.7	+	15	3708	c.3400G>A	c.(3400-3402)Gaa>Aaa	p.E1134K	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E695K|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E723K|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E1190K	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1190					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGCCGAAGGAAGAGGGTTC	0.617000													11	17					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849971	189849971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:189849971C>T	ENST00000304636.3	+	3	501	c.331C>T	c.(331-333)Cca>Tca	p.P111S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P111S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	111					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)	CAAGGGAGATCCAGTAAGTAA	0.338000													34	57					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	75003612	75003612	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:75003612A>G	ENST00000428202.2	-	3	362	c.173T>C	c.(172-174)tTg>tCg	p.L58S	POC5_ENST00000510798.1_5'UTR|POC5_ENST00000446329.2_Missense_Mutation_p.L33S|POC5_ENST00000514838.2_Missense_Mutation_p.L58S|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000504862.1_5'UTR	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	58					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTGGCACCAATTCTCCCTT	0.333000													4	9					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3743350	3743350	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3743350A>T	ENST00000252505.3	+	8	717	c.555A>T	c.(553-555)aaA>aaT	p.K185N	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	204							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)		CTGGACAAAAAGACTGGACTG	0.443000										HNSCC(21;0.051)			13	35					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498462	118498462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118498462C>T	ENST00000361417.2	+	7	1334	c.923C>T	c.(922-924)tCc>tTc	p.S308F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S308F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	308										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGCTCGCTCCGAGAGTCCT	0.667000													16	41					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804730	54804730	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:54804730A>T	ENST00000306858.7	+	5	1077	c.961A>T	c.(961-963)Aac>Tac	p.N321Y		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	321										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGCCAGAGAAACCTTTTTGG	0.383000													28	58					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56969610	56969610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56969610G>A	ENST00000591790.1	-	4	1595	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ZNF667_ENST00000342634.3_Missense_Mutation_p.S149F|ZNF667_ENST00000292069.6_Missense_Mutation_p.S56F|ZNF667_ENST00000504904.3_Missense_Mutation_p.S56F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCTCCGAAAGGAAAGACCTGT	0.498000													6	29					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89576354	89576354	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:89576354T>C	ENST00000402738.1	+	8	1046	c.807T>C	c.(805-807)ggT>ggC	p.G269G	HERC3_ENST00000264345.3_Silent_p.G269G|HERC3_ENST00000407637.1_Silent_p.G269G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	269					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTGGCGCTGGTTCCTGTGGGC	0.438000													61	154					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46318574	46318574	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:46318574G>A	ENST00000465950.1	-	2	4107	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	SCAF11_ENST00000369367.3_Silent_p.P1281P|SCAF11_ENST00000549162.1_Silent_p.P1089P|SCAF11_ENST00000419565.2_Silent_p.P1281P			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1281	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTGGGGGAGGGGGTGGTGGTG	0.493000													63	126					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824440	13824440	+	Silent	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13824440A>C	ENST00000265104.4	-	39	6551	c.6447T>G	c.(6445-6447)gtT>gtG	p.V2149V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2149	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)					AGTCATAATGAACCTAGAGAA	0.383000									Kartagener syndrome				30	23					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885597	25885597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:25885597G>A	ENST00000376351.3	+	10	2383	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	675						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R675Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AATAACCCACGAGATGATATT	0.408000													9	22					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318071	30318071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:30318071C>T	ENST00000375377.1	-	3	1107	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	336	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						ACTGGAGGTTCCAATCCAGGG	0.597000													76	119					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675743	62675743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62675743G>A	ENST00000498273.1	+	4	1592	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	433	Glu-rich.							p.E433Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ctcagggctagaggaggaaga	0.527000													16	35					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817115	2817115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2817115C>T	ENST00000301740.8	+	11	7135	c.6586C>T	c.(6586-6588)Cct>Tct	p.P2196S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2196	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCGGCCTCCTCCGTCCAT	0.577000													5	80					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798699	212798699	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212798699G>A	ENST00000294829.3	+	1	911	c.480G>A	c.(478-480)cgG>cgA	p.R160R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	160										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTGACACACGGGATGACCTCT	0.493000													61	159					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081384	126081384	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126081384G>A	ENST00000298317.4	-	1	203	c.150C>T	c.(148-150)ctC>ctT	p.L50L	RPUSD4_ENST00000533628.1_Silent_p.L50L|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	50					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TCTGGGCTCGGAGCTTCTCCG	0.572000													48	157					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472686	76472686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76472686C>T	ENST00000396423.2	+	9	1325	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	HNF4G_ENST00000354370.1_Missense_Mutation_p.H364Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	364					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACACTGGTTCATGCAGACCA	0.373000													16	50					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:111155953C>T	ENST00000262839.2	-	3	1384	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000													72	28					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176761405	176761405	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176761405C>A	ENST00000303127.7	-	7	995		c.e7-1		LMAN2_ENST00000515209.1_Splice_Site	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2						protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATGATTGTCTGCAGGACCA	0.572000													33	28					2.95478e-19	3.00479e-19	1	1	0
TRIM10	10107	broad.mit.edu	37	6	30128563	30128563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30128563C>T	ENST00000449742.2	-	1	148	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRIM10_ENST00000376704.3_Missense_Mutation_p.E25K	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	25						cytoplasm	zinc ion binding			ovary(1)	1						GTGACCGGCTCCCTCAGGGTA	0.612000													23	47					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320573	56320573	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56320573T>G	ENST00000443188.1	-	5	2113	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	NLRP11_ENST00000360133.3_Missense_Mutation_p.N468T|NLRP11_ENST00000592953.1_Missense_Mutation_p.N369T|NLRP11_ENST00000589824.2_Missense_Mutation_p.N468T|NLRP11_ENST00000589093.1_Missense_Mutation_p.N468T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	468	NACHT.						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)		GATCAGATAGTTGGGTACTGC	0.398000													22	56					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892705	72892705	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:72892705A>G	ENST00000339594.4	-	7	1424	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	BAZ1B_ENST00000404251.1_Silent_p.P362P	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	362	Lys-rich.				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)				GATGTTCTTCAGGAGATTTGG	0.423000													20	41					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766603	77766603	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:77766603C>T	ENST00000521891.2	+	10	7894	c.7446C>T	c.(7444-7446)ctC>ctT	p.L2482L	ZFHX4_ENST00000455469.2_Silent_p.L2437L|ZFHX4_ENST00000050961.6_Silent_p.L2437L|ZFHX4_ENST00000518282.1_Silent_p.L2456L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2437						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGACGTCTCTCCAGAACAGTC	0.512000										HNSCC(33;0.089)			36	64					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857534	9857534	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:9857534C>A	ENST00000396573.2	-	14	4176	c.3867G>T	c.(3865-3867)caG>caT	p.Q1289H	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1289H|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1289H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1289					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTAGGAATGCTGACGGCTAA	0.532000													4	80					0.014758	0.0148015	1	1	0
FBXO36	130888	broad.mit.edu	37	2	230861589	230861589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:230861589G>A	ENST00000373652.3	+	4	656	c.235G>A	c.(235-237)Gat>Aat	p.D79N	FBXO36_ENST00000283946.3_Missense_Mutation_p.D110N|FBXO36_ENST00000409992.1_Missense_Mutation_p.D90N			Q8NEA4	FBX36_HUMAN	F-box protein 36	110										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTTATCTGGATCTTGAAGA	0.353000													65	108					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373837	126373837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:126373837C>T	ENST00000394329.3	+	9	11679	c.11666C>T	c.(11665-11667)cCa>cTa	p.P3889L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2187L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3889	EGF-like 2; calcium-binding (Potential).				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						TGCAGCTGCCCAGATGGCTTC	0.483000													11	26					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53701346	53701346	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53701346G>T	ENST00000209873.4	-	16	1733	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	AAAS_ENST00000550286.1_Missense_Mutation_p.P399Q|AAAS_ENST00000394384.3_Missense_Mutation_p.P490Q	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	523					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGCAGAGGTTGGGGATGTCTC	0.562000													23	41					9.86323e-18	1.00069e-17	1	1	0
OR1L3	26735	broad.mit.edu	37	9	125438106	125438106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:125438106G>A	ENST00000304820.2	+	1	792	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCAGCAGCTGGAAAACACAAA	0.453000													20	14					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154502638	154502638	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154502638T>G	ENST00000409959.3	+	9	867	c.818T>G	c.(817-819)tTt>tGt	p.F273C	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F273C|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F273C	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	273						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAAAAGAATTTGAAGAAAAC	0.348000													38	27					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64681879	64681879	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64681879G>A	ENST00000421419.2	-	2	379	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ATG2A_ENST00000377264.3_Silent_p.L89L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	89							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCGGTGAGCAGAGCAGCCCAG	0.682000													11	15					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326292	24326292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24326292G>A	ENST00000175238.6	+	7	675	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E198K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	198					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATCCATGATGAAAAGTATGT	0.308000													17	59					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851330	14851330	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14851330G>A	ENST00000380881.4	-	7	1922	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	FREM1_ENST00000422223.2_Silent_p.I368I|FREM1_ENST00000380880.3_Silent_p.I368I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	368					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)		GCTGATAGGCGATCTGCATGT	0.483000													27	41					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496137	41496137	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:41496137G>A	ENST00000400454.1	-	20	4158	c.3681C>T	c.(3679-3681)tcC>tcT	p.S1227S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1227	Fibronectin type-III 4.				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)				GATAGGGGTGGGAGCAGAATA	0.552000													70	158					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372394	55372394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55372394G>A	ENST00000297316.4	+	2	1288	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	362	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGACCGCACGGAATTTGAACA	0.687000													20	43					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	881810	881810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:881810G>A	ENST00000327044.6	-	15	1824	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	592						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GACGCCGAAGGAAACCCTCTG	0.632000													31	63					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099900	142099900	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142099900G>A	ENST00000390359.3	-	0	77																											CTGTCCCTAGGAAACCCAGGA	0.522000													39	129					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293480	113293480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:113293480C>T	ENST00000297405.5	-	59	9675	c.9431G>A	c.(9430-9432)gGa>gAa	p.G3144E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3074E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3104E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2975E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3144	Sushi 23.					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						AAGGATGTATCCCTCCATGCA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			60	70					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694797	48694797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:48694797G>A	ENST00000236495.5	+	4	412	c.362G>A	c.(361-363)gGa>gAa	p.G121E	SLC5A9_ENST00000438567.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G121E|SLC5A9_ENST00000420136.2_Intron	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aggtctggaggagacagaggg	0.532000													83	107					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152698471	152698471	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152698471C>T	ENST00000360283.6	-	12	1406	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	CACNB4_ENST00000397327.2_Silent_p.R369R|CACNB4_ENST00000539935.1_Silent_p.R416R|CACNB4_ENST00000427385.1_Silent_p.R398R|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.R382R			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	416					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	AGCCCAAATTCCTTCCCAGCA	0.502000													71	122					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805003	54805003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:54805003C>T	ENST00000306858.7	+	5	1350	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	412										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAATAATCCACCTGGTAA	0.458000													24	72					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799864	38799864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:38799864G>A	ENST00000308979.2	-	4	862	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	TLR1_ENST00000502213.2_Missense_Mutation_p.P197S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	197					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTTTGTGGGGAACACAATG	0.398000													16	44					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101435294	101435294	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101435294G>A	ENST00000554693.2	+	0	212				SNORD114-12_ENST00000365400.1_RNA																							CTGGACCAATGATGACAAATA	0.353000													9	101					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392171	42392171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42392171G>A	ENST00000426726.3	+	5	801	c.527G>A	c.(526-528)gGa>gAa	p.G176E	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.G171E|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G176E	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	176	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGCTGATCGGACTGAGCGCC	0.612000													27	68					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:63990302C>T	ENST00000370657.4	-	4	1187	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	385					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000													55	113					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138761036	138761036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138761036G>A	ENST00000242351.5	-	6	2009	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.H565Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.H687Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	565			H -> Q (in dbSNP:rs2297241).		response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACTTACAGGTGGATTCCGGGG	0.468000													47	133					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415681	30415681	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30415681T>A	ENST00000333027.3	+	17	2361	c.2033T>A	c.(2032-2034)cTt>cAt	p.L678H	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.L678H|MTMR3_ENST00000406629.1_Missense_Mutation_p.L678H|MTMR3_ENST00000401950.2_Missense_Mutation_p.L678H|MTMR3_ENST00000323630.5_Missense_Mutation_p.L542H	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	678					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGTGCCGAGCTTTCTGTTGCA	0.637000													50	80					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299837	145299837	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:145299837C>A	ENST00000342960.5	+	6	921	c.886C>A	c.(886-888)Cgc>Agc	p.R296S	NBPF10_ENST00000369338.1_Missense_Mutation_p.R25S|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	296										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGAGAAATTGCGCCCCCAGCT	0.488000													55	468					4.00405e-42	4.11415e-42	1	1	0
NOP2	4839	broad.mit.edu	37	12	6669313	6669313	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6669313G>A	ENST00000541778.1	-	15	2216	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_Silent_p.F576F|NOP2_ENST00000537442.1_Silent_p.F580F|NOP2_ENST00000399466.2_Silent_p.F576F|NOP2_ENST00000322166.5_Silent_p.F580F|NOP2_ENST00000382421.3_Silent_p.F613F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	580					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTTGGCAATGAAGAACCCAT	0.478000													23	46					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101585547	101585547	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:101585547G>A	ENST00000375011.3	+	2	381	c.381G>A	c.(379-381)gaG>gaA	p.E127E		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	127						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGTGCAAAGAGAAGAAATATG	0.463000													35	24					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392709	89392709	+	RNA	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:89392709A>G	ENST00000532352.1	+	0	532							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						TTTCTAGGTTAAAAATGCCCA	0.403000													15	22					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074180	108074180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108074180G>A	ENST00000357759.5	+	5	1051	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	HHLA2_ENST00000489514.2_Missense_Mutation_p.E213K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E213K|HHLA2_ENST00000491820.1_Missense_Mutation_p.E213K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E149K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	213	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATGTACAATTGAAAATTCACT	0.418000													40	87					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28499933	28499933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28499933G>A	ENST00000395653.4	-	3	457	c.53C>T	c.(52-54)aCt>aTt	p.T18I	CLN3_ENST00000568224.1_Intron|CLN3_ENST00000565316.1_Silent_p.D91D|CLN3_ENST00000567963.1_Silent_p.D91D|CLN3_ENST00000354630.5_Silent_p.D91D|CLN3_ENST00000360019.2_Silent_p.D91D|CLN3_ENST00000359984.7_Silent_p.D91D|CLN3_ENST00000357806.7_Silent_p.D91D|CLN3_ENST00000357857.9_Silent_p.D37D|CLN3_ENST00000357076.5_Silent_p.D91D|CLN3_ENST00000569430.1_Silent_p.D91D|CLN3_ENST00000333496.9_Intron|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000355477.5_Silent_p.D91D			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	114					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CAGAGTTGCAGTCAAATCGTG	0.577000													86	113					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552972	14552972	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14552972C>T	ENST00000273083.3	-	0	1800							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGGCTCCCCTCGTTTCCTGCT	0.602000													18	29					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508545	43508545	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:43508545C>T	ENST00000395891.1	+	16	3545	c.2940C>T	c.(2938-2940)agC>agT	p.S980S	HECW1_ENST00000453890.1_Silent_p.S946S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	980					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCACCAGTAGCACCTGCTTAA	0.502000													17	47					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510044	169510044	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:169510044G>A	ENST00000367796.3	-	13	4500	c.4299C>T	c.(4297-4299)tcC>tcT	p.S1433S	F5_ENST00000367797.3_Silent_p.S1428S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1428	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGGGGAAAGGGACATCTGAC	0.527000													27	62					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54947051	54947051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54947051C>T	ENST00000301194.4	+	12	1434	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	TTYH1_ENST00000391739.3_3'UTR|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.Q438*|TTYH1_ENST00000376531.3_Intron|TTYH1_ENST00000489425.1_3'UTR			Q9H313	TTYH1_HUMAN	tweety family member 1	437					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TTTCAACCCTCAGGTACTGGA	0.647000													58	54					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53038870	53038870	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53038870C>A	ENST00000309680.3	-	9	1874	c.1853G>T	c.(1852-1854)gGt>gTt	p.G618V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	618	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGAGCTAGAACCCCCACCTCC	0.547000													32	90					1.59361e-14	1.61255e-14	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506958	84506958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:84506958C>T	ENST00000286744.5	+	7	942	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P240S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	240						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACGTTTCTCCTGAAAAAAG	0.423000													29	33					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130279194	130279194	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:130279194G>A	ENST00000373312.3	-	8	1128	c.915C>T	c.(913-915)atC>atT	p.I305I	FAM129B_ENST00000373314.3_Silent_p.I292I|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	305							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTCAGTTCGGATGACGGCCT	0.642000													205	131					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318338	41318338	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41318338T>C	ENST00000357137.4	+	8	1141	c.1055_splice	c.e8-1	p.F353_splice	XPNPEP3_ENST00000544094.1_Splice_Site_p.F330_splice	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	353					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CGTCCCCAGGTTCACCGCACC	0.448000													54	86					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849459	106849459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:106849459C>T	ENST00000526355.1	-	3	841	c.373G>A	c.(373-375)Gat>Aat	p.D125N	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D125N|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D125N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	125					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTTCTGCATCCCTGTAACTA	0.383000													10	24					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544559	82544559	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82544559T>A	ENST00000423517.2	-	7	13080	c.12743A>T	c.(12742-12744)aAt>aTt	p.N4248I	PCLO_ENST00000333891.8_Missense_Mutation_p.N4248I|PCLO_ENST00000437081.1_Missense_Mutation_p.N968I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4179	Ser-rich.				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						GTCTGTAATATTTTTTCTGAG	0.428000													14	33					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91226367	91226367	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:91226367T>C	ENST00000369329.3	-	17	1835	c.1674A>G	c.(1672-1674)gaA>gaG	p.E558E	MAP3K7_ENST00000369332.3_Silent_p.E531E|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Silent_p.E212E|MAP3K7_ENST00000369325.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	558					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGGTCCTTTTCATCCTGGT	0.368000													25	56					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70136737	70136737	+	Translation_Start_Site	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:70136737A>C	ENST00000265865.3	-	0	786				RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000388768.2_Intron			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2							nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATCTGGTGTAATTCAAATCA	0.368000													77	110					0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138341174	138341174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:138341174C>T	ENST00000338446.4	+	4	1041	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	FAIM_ENST00000464668.1_Missense_Mutation_p.L86F|FAIM_ENST00000393034.2_Missense_Mutation_p.L86F|FAIM_ENST00000393035.2_Missense_Mutation_p.L86F|FAIM_ENST00000360570.3_Missense_Mutation_p.L108F	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	86					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TGGGAAAAGTCTCAAGAAGTA	0.363000													32	57					0	0	1	0	0
BBS5	129880	broad.mit.edu	37	2	170349485	170349485	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170349485A>G	ENST00000295240.3	+	6	864	c.488A>G	c.(487-489)aAa>aGa	p.K163R	BBS5_ENST00000392663.2_Missense_Mutation_p.K163R|BBS5_ENST00000554017.1_Missense_Mutation_p.K163R|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.K163R	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTATATGATAAAATAAATGGA	0.328000									Bardet-Biedl syndrome				50	98					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100990250	100990250	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100990250C>T	ENST00000360863.6	-	23	3608	c.3414G>A	c.(3412-3414)agG>agA	p.R1138R	RGS22_ENST00000523287.1_Silent_p.R957R|RGS22_ENST00000523437.1_Silent_p.R1126R	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1138	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTAAATTCTTCCTAAACTCAC	0.299000													14	27					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957283	49957283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49957283C>T	ENST00000376056.2	-	5	2204	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.G311E|AKAP4_ENST00000376064.3_Missense_Mutation_p.G685E|AKAP4_ENST00000358526.2_Missense_Mutation_p.G694E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	694					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATAAATTGCCCGTTCGCTTG	0.458000													26	16					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150257025	150257025	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150257025C>T	ENST00000290363.5	+	4	989	c.540C>T	c.(538-540)acC>acT	p.T180T	C1orf51_ENST00000369094.1_Silent_p.T92T|C1orf51_ENST00000369095.1_Silent_p.T180T|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	180										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTAGGAACCTTGCTACAGG	0.438000													39	45					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056660	100056660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100056660C>T	ENST00000369214.1	+	2	479	c.218C>T	c.(217-219)tCc>tTc	p.S73F	PRDM13_ENST00000369215.4_Missense_Mutation_p.S63F	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	63	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TCGGGGGGCTCCCCTCTGGAG	0.612000													24	45					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5952663	5952663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5952663C>T	ENST00000378896.3	+	11	1611	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	MCM8_ENST00000265187.4_Missense_Mutation_p.P396S|MCM8_ENST00000378883.1_Missense_Mutation_p.P412S|MCM8_ENST00000378886.2_Intron	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	412	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CTCGCTTTGCCCTGTCATTTT	0.294000													20	75					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40268836	40268836	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:40268836C>T	ENST00000416691.1	+	12	1240	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	COG6_ENST00000455146.3_Silent_p.L380L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	380					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTTCTAATCTCCTCAAATTTT	0.313000													28	22					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793777	217793777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:217793777C>T	ENST00000366935.3	-	2	231	c.121G>A	c.(121-123)Gag>Aag	p.E41K	GPATCH2_ENST00000366934.3_Missense_Mutation_p.E41K	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	41						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CGAGCTTGCTCTGAGCTCTCT	0.448000													24	69					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428965	222428965	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:222428965G>A	ENST00000281821.2	-	3	350	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPHA4_ENST00000409938.1_Silent_p.F103F|EPHA4_ENST00000392071.4_Silent_p.F52F|EPHA4_ENST00000409854.1_Silent_p.F103F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	103						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCTCAAGGTGAATTTAATCT	0.473000													38	96					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887761	3887761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:3887761G>A	ENST00000319331.3	+	2	2197	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	479	Ig-like C2-type.					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)		TACAAGCTAAGTAGCGAAGGT	0.448000													47	81					0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:36288274G>A	ENST00000539424.1	+	2	1785	c.120G>A	c.(118-120)atG>atA	p.M40I	TBC1D3F_ENST00000505415.1_Missense_Mutation_p.M120I|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.M120I|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.M120I			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	120						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						CTGAGGAAATGAAGTTGAAAA	0.557000													92	1291					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85059214	85059214	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:85059214C>T	ENST00000335459.5	-	4	1105	c.900G>A	c.(898-900)gaG>gaA	p.E300E	TRABD2A_ENST00000409520.2_Silent_p.E349E|TRABD2A_ENST00000479944.1_5'UTR	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CGTGTTCTACCTCATAGCCTT	0.552000													29	70					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39412175	39412175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39412175G>A	ENST00000221431.6	-	4	685	c.526C>T	c.(526-528)Cca>Tca	p.P176S	SARS2_ENST00000600042.1_Missense_Mutation_p.P178S|SARS2_ENST00000430193.3_Missense_Mutation_p.P176S|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.P245L|SARS2_ENST00000594171.1_5'UTR|SARS2_ENST00000448145.2_Missense_Mutation_p.P176S	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	176					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCACGTCTGGGTGGGTCTGG	0.657000													13	32					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29040629	29040629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29040629C>T	ENST00000373816.1	+	10	1174	c.1036C>T	c.(1036-1038)Cac>Tac	p.H346Y	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.H346Y|GMEB1_ENST00000294409.2_Missense_Mutation_p.H356Y	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	356					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)		AGGCCAGGATCACAGGCTGAA	0.498000													45	99					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251393	25251393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:25251393C>T	ENST00000328086.7	-	7	3451	c.2648G>A	c.(2647-2649)gGg>gAg	p.G883E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	883					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGATTCTCCCCAGTGTGAAC	0.478000													7	52					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	870936	870936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:870936C>T	ENST00000381922.3	-	2	487	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.A129T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	129					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCATGGGGGCCGTCTGATTC	0.602000													30	48					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388866	119388866	+	Silent	SNP	T	T	C	rs141549568	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:119388866T>C	ENST00000326624.2	+	2	1824	c.1596T>C	c.(1594-1596)ccT>ccC	p.P532P	ZBTB33_ENST00000557385.1_Silent_p.P532P	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	532	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTATTTCCTCTTGCAGAAT	0.423000													107	27					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72120974	72120974	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:72120974G>A	ENST00000425175.1	+	3	228	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SLC4A4_ENST00000351898.6_Silent_p.K37K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.K37K	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	37						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGTGCCGAAGAGTTACAGGA	0.433000													45	105					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16725845	16725845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16725845C>T	ENST00000335496.1	-	12	1828	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	SPATA21_ENST00000540400.1_Missense_Mutation_p.G426E|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	449							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCACCTGTTTCCTTGAGATCC	0.577000													20	33					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249145	140249145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140249145C>T	ENST00000398640.2	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_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)			CTCGCGTTTTCCACTAGAGGG	0.448000													85	75					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2910423	2910423	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2910423C>T	ENST00000001008.4	+	9	1360	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	391	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CCGCCAAGACCCAGCTGGCTG	0.592000													43	103					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594450	195594450	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:195594450G>A	ENST00000333602.6	-	12	3291	c.2674C>T	c.(2674-2676)Ctg>Ttg	p.L892L	TNK2_ENST00000428187.1_Silent_p.L924L|TNK2_ENST00000392400.1_Silent_p.L892L|TNK2_ENST00000381916.2_Silent_p.L970L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	892	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ggcagcagcagaggcacaggc	0.706000													10	28					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978133	10978133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:10978133C>T	ENST00000240619.2	-	1	824	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	246					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGATATTTCTATGGCCATG	0.378000													35	70					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151818043	151818043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:151818043G>A	ENST00000434507.1	+	13	2122	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	GALNT11_ENST00000430044.2_Nonsense_Mutation_p.W562*|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000320311.2_Nonsense_Mutation_p.W562*|GALNT11_ENST00000452146.2_Nonsense_Mutation_p.W481*			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	562	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCCCAGCAGTGGACCTTTGGG	0.522000													10	41					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959788	45959788	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45959788C>T	ENST00000400375.1	-	1	290	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	82	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ggcagctagacTGCTGGCAGC	0.687000													50	61					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049520	11049520	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:11049520C>T	ENST00000470054.1	-	0	588									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)		ACCGCTGTATCCAGGCACATT	0.458000													5	65					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926759	147926759	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:147926759A>G	ENST00000361727.3	+	20	3785	c.3269A>G	c.(3268-3270)aAc>aGc	p.N1090S	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.N149S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1090	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTCGATACAACCTGGGTGGC	0.458000										HNSCC(39;0.1)			36	47					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118906709	118906709	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:118906709G>A	ENST00000497685.1	+	0	210				UPK1B_ENST00000460625.1_Missense_Mutation_p.D53N|UPK1B_ENST00000264234.3_Missense_Mutation_p.D53N			O75841	UPK1B_HUMAN	uroplakin 1B						epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CACCGACAACGATGACATCTA	0.532000													91	125					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067375	62067375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:62067375G>A	ENST00000404929.1	-	3	775	c.764C>T	c.(763-765)tCc>tTc	p.S255F	FAM161A_ENST00000405894.3_Missense_Mutation_p.S255F	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	255					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATTTCATGGACTCTTCTTT	0.378000													19	39					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550408	167550408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:167550408G>A	ENST00000341935.5	+	3	1242	c.690G>A	c.(688-690)atG>atA	p.M230I	CCR6_ENST00000400926.2_Missense_Mutation_p.M230I|CCR6_ENST00000349984.4_Missense_Mutation_p.M230I	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	230					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGATGTTCATGATATTTTGTT	0.448000													33	57					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828894	6828894	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6828894G>A	ENST00000304076.2	+	13	1342	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	VAV1_ENST00000599806.1_Silent_p.R361R|VAV1_ENST00000596764.1_Silent_p.R384R|VAV1_ENST00000602142.1_Silent_p.R416R|VAV1_ENST00000539284.1_Silent_p.R319R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	PH.				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	p.R416R(1)		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						CGGTGGAACGGCGCTCCAAGA	0.612000													21	29					0	0	1	0	0
MIR410	574434	broad.mit.edu	37	14	101532322	101532322	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101532322C>T	ENST00000362222.2	+	0	74					NR_030156.1																						GGCCTGTTTTCAGTACCGCTA	0.537000													14	27					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124181719	124181719	+	Silent	SNP	G	G	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124181719G>C	ENST00000303372.5	+	13	1607	c.1479G>C	c.(1477-1479)ggG>ggC	p.G493G	TCTN2_ENST00000426174.2_Silent_p.G492G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	493					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TAGAAGTCGGGATTAATGAAA	0.363000													47	115					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551083	165551083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:165551083C>T	ENST00000375458.2	-	11	3040	c.2819G>A	c.(2818-2820)gGt>gAt	p.G940D	COBLL1_ENST00000409184.3_Missense_Mutation_p.G978D|COBLL1_ENST00000392717.2_Missense_Mutation_p.G1016D|COBLL1_ENST00000194871.6_Missense_Mutation_p.G1045D|COBLL1_ENST00000342193.4_Missense_Mutation_p.G978D	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1016										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGGAGCCTGACCGATGACATC	0.468000													15	42					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553107	140553107	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140553107C>T	ENST00000231137.3	+	1	865	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		231	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGCGCATTCTGGTTCTAGA	0.547000													34	38					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329058	51329058	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51329058C>T	ENST00000326856.4	-	6	891	c.762G>A	c.(760-762)agG>agA	p.R254R	KLK15_ENST00000416184.1_Silent_p.R170R|KLK15_ENST00000598239.1_Silent_p.R255R|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000301421.2_3'UTR	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	255	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)		ATAGTCAGTTCCTCTTCATGG	0.562000													29	45					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553945	150553945	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150553945C>T	ENST00000493429.1	+	4	971	c.387C>T	c.(385-387)tcC>tcT	p.S129S	AOC1_ENST00000360937.4_Silent_p.S129S|AOC1_ENST00000416793.2_Silent_p.S129S|AOC1_ENST00000467291.1_Silent_p.S129S					amine oxidase, copper containing 1																		GAGCACTGTCCCCCAGGCCTG	0.632000													79	78					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17500139	17500139	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:17500139G>A	ENST00000541323.1	+	7	1402	c.957G>A	c.(955-957)acG>acA	p.T319T	PDGFRL_ENST00000251630.6_Silent_p.T319T|PDGFRL_ENST00000523248.1_Intron|PDGFRL_ENST00000398074.3_Silent_p.T319T	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	319	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGCCTGTGACGATCCAAGACA	0.498000													20	32					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895485	45895485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45895485G>A	ENST00000418234.2	-	8	1546	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P490S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	490	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCCTCGTGGGGCTGAGAGGC	0.672000													12	22					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71462722	71462722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71462722C>T	ENST00000322937.6	+	3	194	c.91C>T	c.(91-93)Cct>Tct	p.P31S	AMBN_ENST00000449493.2_Missense_Mutation_p.P31S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	31					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCAGTTCTTTCCTCAGCAATC	0.373000													17	36					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763871	82763871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82763871C>T	ENST00000423517.2	-	3	3332	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	PCLO_ENST00000333891.8_Missense_Mutation_p.E999K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	945					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						GCTTTTGTTTCCTTTTTCACA	0.468000													10	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621343	179621343	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179621343G>A	ENST00000589042.1	-	46	11084	c.10860C>T	c.(10858-10860)tcC>tcT	p.S3620S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Silent_p.S3449S|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3307							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)			CTGTGTGGATGGAACTTTGAG	0.383000													19	55					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169195117	169195117	+	Missense_Mutation	SNP	C	C	T	rs144653089	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169195117C>T	ENST00000393743.3	-	17	2713	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	808	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCACCCCGTCGTCGCTCTCC	0.448000													52	79					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944708	944708	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:944708C>T	ENST00000217260.4	-	4	561	c.465G>A	c.(463-465)aaG>aaA	p.K155K	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	155	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCGCAGGTCTTTCCATTGT	0.642000													13	35					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256676	140256676	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140256676C>A	ENST00000398631.2	+	1	1619	c.1619C>A	c.(1618-1620)gCc>gAc	p.A540D	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_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)			GCGCGCGACGCCGGCGTGCCG	0.692000													89	80					4.85238e-36	4.9808e-36	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237240221	237240221	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237240221A>G	ENST00000409907.3	-	18	2428	c.2154T>C	c.(2152-2154)atT>atC	p.I718I	IQCA1_ENST00000309507.5_Silent_p.I715I|IQCA1_ENST00000431676.2_Silent_p.I677I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	718							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATTGCGTTCAATGATTTGCT	0.483000													7	23					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46372612	46372612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46372612C>T	ENST00000339464.4	-	1	397	c.23G>A	c.(22-24)tGg>tAg	p.W8*	WNT7B_ENST00000410058.1_Nonsense_Mutation_p.W8*	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	8					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGAAAATCCACTTGCGAAA	0.667000													15	39					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113832845C>T	ENST00000393197.2	+	4	784	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_ENST00000341010.2_Silent_p.F121F|IL1F10_ENST00000337569.3_Silent_p.F121F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000													45	93					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599107	31599107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31599107C>T	ENST00000376033.2	+	16	2891	c.2657C>T	c.(2656-2658)cCt>cTt	p.P886L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P886L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	886	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						AAGGAGCCCCCTAAGGAGGAG	0.662000													22	35					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656049	40656049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:40656049C>T	ENST00000406785.1	-	2	1561	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SLC8A1_ENST00000542756.1_Missense_Mutation_p.E458K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E458K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E458K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E458K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E458K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E458K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E458K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E458K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E458K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	458	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCAGTAAATTCATAATCAGAC	0.423000													30	44					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51768239	51768239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:51768239C>T	ENST00000262676.5	-	10	1026	c.866G>A	c.(865-867)gGg>gAg	p.G289E	TTC39A_ENST00000451380.1_Missense_Mutation_p.G257E|TTC39A_ENST00000371747.3_Missense_Mutation_p.G292E|TTC39A_ENST00000413473.2_Missense_Mutation_p.G261E|TTC39A_ENST00000447632.2_Missense_Mutation_p.G293E|TTC39A_ENST00000262675.7_Missense_Mutation_p.G230E|TTC39A_ENST00000371750.5_Missense_Mutation_p.G258E			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	293							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GTTGACGTTCCCAGTACCTGG	0.617000													3	9					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521821	31521821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31521821C>T	ENST00000331075.5	+	2	1145	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000405300.1_5'UTR|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Missense_Mutation_p.P299S			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	366	Pro-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TCCCCCAGCCCCTGACATGGC	0.667000													4	19					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71543097	71543097	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:71543097C>T	ENST00000304743.2	+	28	5744	c.5298C>T	c.(5296-5298)taC>taT	p.Y1766Y	PCNX_ENST00000238570.5_Silent_p.Y1694Y|PCNX_ENST00000439984.3_Silent_p.Y1655Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1766						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGTGATTTACCTCAACTGGA	0.408000													5	58					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117746795	117746795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117746795G>A	ENST00000368508.3	-	1	223	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P9S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	9					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAAGCTTCGGAATAAGACAG	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								45	87					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258065	8258065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:8258065G>A	ENST00000402384.3	-	6	715	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ICA1_ENST00000401396.1_Missense_Mutation_p.S138L|ICA1_ENST00000265577.7_Missense_Mutation_p.S149L|ICA1_ENST00000422063.2_Missense_Mutation_p.S150L|ICA1_ENST00000396675.3_Missense_Mutation_p.S150L|ICA1_ENST00000406470.2_Missense_Mutation_p.S150L|ICA1_ENST00000407906.1_Missense_Mutation_p.S150L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	150	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCAAGTATCTGAGATGGCCCG	0.488000													43	58					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23357066	23357066	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:23357066C>T	ENST00000400181.4	+	2	560	c.456C>T	c.(454-456)ccC>ccT	p.P152P	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.P152P|KDM1A_ENST00000356634.3_Silent_p.P152P	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	152	Poly-Pro.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAGCTTCCCCCACCACCCC	0.453000													33	62					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251392	43251392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43251392G>A	ENST00000259750.4	+	14	2997	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	972						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCGCTGTGGAGGAGGGGGC	0.682000													17	39					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156926622	156926622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156926622C>T	ENST00000257527.4	-	13	1435	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	ADAM19_ENST00000430702.2_Missense_Mutation_p.G186R|ADAM19_ENST00000517905.1_Missense_Mutation_p.G453R|ADAM19_ENST00000394020.1_Missense_Mutation_p.G455R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	453	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCCGCCCCCGGCCTCAGG	0.632000													14	14					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120114362	120114362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:120114362G>A	ENST00000229328.5	+	5	1045	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PRKAB1_ENST00000540121.1_Missense_Mutation_p.G19R|PRKAB1_ENST00000541640.1_Missense_Mutation_p.G185R	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	185					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTCTCCCCCAGGACCCTACCA	0.522000													52	93					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509400	63509400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:63509400G>A	ENST00000389100.4	+	4	319	c.247G>A	c.(247-249)Gga>Aga	p.G83R	RNF180_ENST00000296615.6_Missense_Mutation_p.G83R|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	83						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GTGGACAGTTGGAAAACTGAA	0.413000													32	146					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203208	41203208	+	Missense_Mutation	SNP	C	C	T	rs138105385		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41203208C>T	ENST00000263413.3	-	2	389	c.125G>A	c.(124-126)gGa>gAa	p.G42E	C6_ENST00000337836.5_Missense_Mutation_p.G42E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G42E(1)		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)				GCTCTGGGTTCCAGAATTGCA	0.488000													29	182					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876305	35876305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:35876305C>T	ENST00000303115.3	+	8	1226	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	366					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)			AGAGATTCATCCCTCACATGC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						27	36					0	0	1	0	0
RPL19	6143	broad.mit.edu	37	17	37358611	37358611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37358611C>T	ENST00000579260.1	+	3	551	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	RPL19_ENST00000225430.4_Missense_Mutation_p.R52C|RPL19_ENST00000582193.1_Missense_Mutation_p.R50C|RPL19_ENST00000579374.1_Missense_Mutation_p.R49C			P84098	RL19_HUMAN	ribosomal protein L19	52					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GCTGATCATCCGCAAGCCTGT	0.567000													35	65					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10136059	10136059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:10136059C>T	ENST00000324907.9	+	13	1688	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	GRHL1_ENST00000324883.5_Missense_Mutation_p.P329S|GRHL1_ENST00000405379.2_Missense_Mutation_p.P518S|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	518					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGCTGTCCCTCCTTCTACCAA	0.458000													74	172					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36171241	36171241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:36171241C>T	ENST00000335119.2	+	1	1853	c.1742C>T	c.(1741-1743)cCt>cTt	p.P581L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	581					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCAAGCTACCTTGCAAGATT	0.448000													27	33					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279225	74279225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:74279225C>T	ENST00000295897.4	+	8	1021	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ALB_ENST00000503124.1_Missense_Mutation_p.S161F|ALB_ENST00000509063.1_Missense_Mutation_p.S311F|ALB_ENST00000415165.2_Missense_Mutation_p.S119F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.S196F	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	311	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTGGAAAAATCCCACTGCATT	0.403000													50	78					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377418	60377418	+	Silent	SNP	G	G	A	rs72547600		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:60377418G>A	ENST00000371204.3	-	4	589	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	182					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)					TGTTGATCTTGAAATGAGGGT	0.448000													29	77					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173698	51173698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:51173698G>A	ENST00000440970.1	-	2	2575	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S812F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	812					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)			CTCATCAAAGGAACCTGTGTC	0.507000													61	91					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385852	120385852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:120385852G>A	ENST00000331113.4	+	5	2451	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	496					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTTGTGGACGAACAAGTCTT	0.388000													27	65					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073707	57073707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57073707C>T	ENST00000436936.1	+	16	3041	c.2816C>T	c.(2815-2817)aCt>aTt	p.T939I	NLRC5_ENST00000308149.7_Missense_Mutation_p.T939I|NLRC5_ENST00000539144.1_Missense_Mutation_p.T939I|NLRC5_ENST00000262510.6_Missense_Mutation_p.T939I			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	939					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCACAAAACTGTGATCTTC	0.522000													79	108					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99152404	99152404	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:99152404C>T	ENST00000401707.2	+	10	1542	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	POP1_ENST00000349693.3_Silent_p.F487F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	487					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGCCATTTTCGAGTTGTTGG	0.512000													16	23					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150935938	150935938	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150935938C>T	ENST00000261800.5	-	3	3612	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1200	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCTCTGTCCAGCTGCTGGG	0.488000													9	67					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858822	858822	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:858822C>A	ENST00000381922.3	-	7	1304	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.S401I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	401	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCACTGCCCAGGTG	0.627000													23	23					9.04412e-07	9.10055e-07	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2044089	2044089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:2044089G>A	ENST00000262113.4	+	18	2269	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	MYOM2_ENST00000523438.1_Missense_Mutation_p.V135I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	710					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTGCAGCCGTCCCGTCCCA	0.617000													118	134					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696318	33696318	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33696318G>A	ENST00000253193.7	+	5	844	c.642G>A	c.(640-642)ggG>ggA	p.G214G		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	214	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGTGCCCCGGGGGGACCTTCC	0.726000													8	11					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106053529	106053529	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106053529C>T	ENST00000390539.2	-	0	767																											GGGGCAGCTCCTGTGACCCCT	0.662000													20	51					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625947	140625947	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140625947G>A	ENST00000231173.3	+	1	801	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		267	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGCTAGGGATTTAGACA	0.498000													4	23					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476485	110476485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110476485C>T	ENST00000378402.5	+	49	7528	c.7424C>T	c.(7423-7425)cCa>cTa	p.P2475L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2475					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)			GGGCGATATCCAATACATTGG	0.418000										HNSCC(38;0.096)			20	18					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60578222	60578222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:60578222G>A	ENST00000252996.3	-	9	2479	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	827					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTACCGAAACGAACCTCCCCC	0.572000													29	48					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064358	78064358	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:78064358A>C	ENST00000299642.4	+	3	326	c.241A>C	c.(241-243)Act>Cct	p.T81P	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.T72P|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	72	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TCTCCGAGGCACTAAAGTTCA	0.413000													22	79					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507525	42507525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42507525C>T	ENST00000262895.3	-	18	2472	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	GRIK5_ENST00000301218.4_Missense_Mutation_p.E825K|GRIK5_ENST00000593562.1_Missense_Mutation_p.E825K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	825						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CATATGAATTCCATGACCGCC	0.592000													31	69					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9275539	9275539	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:9275539C>T	ENST00000383440.2	+	10	5969	c.5712C>T	c.(5710-5712)tcC>tcT	p.S1904S	ANKRD12_ENST00000262126.3_Silent_p.S1927S|ANKRD12_ENST00000400020.3_Silent_p.S1904S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1927						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCATTGTATCCAACGAACAAG	0.358000													62	120					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289092	130289092	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130289092G>A	ENST00000257359.6	-	2	1522	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	272	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CATCTTCTACGATCAGCACTT	0.527000													42	124					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23548930	23548930	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:23548930A>G	ENST00000376979.3	-	1	456	c.158T>C	c.(157-159)tTt>tCt	p.F53S		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	53						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTGGACAGCAAACTCCACTGT	0.527000													31	55					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27250966	27250966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:27250966G>A	ENST00000577226.1	-	4	1022	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Nonsense_Mutation_p.Q226*|PHF12_ENST00000332830.4_Nonsense_Mutation_p.Q226*			Q96QT6	PHF12_HUMAN	PHD finger protein 12	226	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGGGCAACTGAAATTGGGTG	0.567000													8	9					0	0	1	0	0
GCLM	2730	broad.mit.edu	37	1	94354692	94354692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94354692G>A	ENST00000370238.3	-	7	925	c.679C>T	c.(679-681)Caa>Taa	p.Q227*		NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	227					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGAGCTTCTTGGAAACTTGCT	0.413000													8	16					0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67958055	67958055	+	Silent	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:67958055T>C	ENST00000357849.4	-	7	1232	c.912A>G	c.(910-912)acA>acG	p.T304T	COPS5_ENST00000517736.1_3'UTR|PPP1R42_ENST00000517834.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	304					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCTGTCTCTTGTAGCTTTGG	0.398000													30	72					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557829	210557829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:210557829C>T	ENST00000360351.4	+	7	1441	c.935C>T	c.(934-936)cCc>cTc	p.P312L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P308L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	312					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTGATTCTCCCATGCCAAGT	0.448000													25	44					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156851341	156851341	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156851341G>A	ENST00000368196.3	+	16	2400	c.2280G>A	c.(2278-2280)cgG>cgA	p.R760R	NTRK1_ENST00000392302.2_Silent_p.R730R|NTRK1_ENST00000524377.1_Silent_p.R766R|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Silent_p.R763R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	766	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTGGCAGCGGGAGCCCCAGC	0.682000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428646	179428646	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179428646A>G	ENST00000589042.1	-	326	82437	c.82213T>C	c.(82213-82215)Tac>Cac	p.Y27405H	TTN_ENST00000460472.2_Missense_Mutation_p.Y18340H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24837H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y18465H|TTN_ENST00000591111.1_Missense_Mutation_p.Y25764H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y18532H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25764							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)			TCAATGATGTAATGTGAAATA	0.453000													35	66					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981250	7981250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7981250C>T	ENST00000328600.2	-	2	2070	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	637							ATP binding	p.E637K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGAAGCTTCCTTTTGTGTT	0.393000													7	18					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128381868	128381868	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128381868C>T	ENST00000389524.4	+	29	3995	c.3942C>T	c.(3940-3942)gtC>gtT	p.V1314V	MYO7B_ENST00000409090.1_Silent_p.V167V|MYO7B_ENST00000409816.2_Silent_p.V1314V|MYO7B_ENST00000428314.1_Silent_p.V1314V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1314	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCGAGGAGTCTGGTCTGGCG	0.592000													9	3					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49362169	49362169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49362169C>T	ENST00000351842.4	-	6	669	c.661G>A	c.(661-663)Gat>Aat	p.D221N	USP4_ENST00000415188.1_Missense_Mutation_p.D221N|USP4_ENST00000416417.1_Missense_Mutation_p.D221N|USP4_ENST00000265560.4_Missense_Mutation_p.D221N	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	221					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CATGTGCCATCTTCATTTTGA	0.443000													30	76					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918130	39918130	+	Silent	SNP	G	G	A	rs146204295	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39918130G>A	ENST00000337304.2	+	2	1461	c.579G>A	c.(577-579)agG>agA	p.R193R	ATF4_ENST00000404241.2_Silent_p.R193R|ATF4_ENST00000396680.1_Silent_p.R193R	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	193					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAGGAGATAGGAAGCCAGACT	0.493000													24	44					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50129841	50129841	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:50129841T>G	ENST00000281631.5	+	24	2494	c.2336T>G	c.(2335-2337)tTc>tGc	p.F779C	PARP8_ENST00000514342.2_Missense_Mutation_p.I490M|PARP8_ENST00000514067.2_Missense_Mutation_p.F737C|PARP8_ENST00000505554.1_Missense_Mutation_p.F758C|PARP8_ENST00000503750.2_Missense_Mutation_p.F737C|PARP8_ENST00000505697.2_Missense_Mutation_p.F779C|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	779	PARP catalytic.					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)				CAATCCCAATTCCTGCAAAGC	0.318000													43	32					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73646450	73646450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:73646450G>A	ENST00000055077.3	-	11	1111	c.1051C>T	c.(1051-1053)Ccg>Tcg	p.P351S	RFC2_ENST00000352131.3_Missense_Mutation_p.P317S	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	351					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTGGCCACCGGGGCCATTGTC	0.522000													141	145					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49691975	49691975	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49691975G>A	ENST00000252826.5	+	13	1947	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	TRPM4_ENST00000355712.5_Silent_p.E253E|TRPM4_ENST00000427978.2_Silent_p.E607E	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	607					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGACGCTGAGGAGGCAGCAC	0.647000													18	47					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79295384	79295384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79295384C>T	ENST00000264895.6	+	25	3570	c.3130C>T	c.(3130-3132)Cat>Tat	p.H1044Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.H1044Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1043					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTTGCAGATCATGCAAAGCA	0.507000													48	81					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671209	127671209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:127671209C>T	ENST00000508053.1	-	35	4759	c.3785G>A	c.(3784-3786)gGa>gAa	p.G1262E	FBN2_ENST00000508989.1_Missense_Mutation_p.G1229E|FBN2_ENST00000507835.1_Missense_Mutation_p.G112E|FBN2_ENST00000262464.4_Missense_Mutation_p.G1262E			P35556	FBN2_HUMAN	fibrillin 2	1262	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCGTAGCTTCCCTCTGAATT	0.453000													91	91					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126299111	126299111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126299111C>T	ENST00000525144.2	-	15	2018	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	KIRREL3_ENST00000416561.2_Missense_Mutation_p.R57Q|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R578Q	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	590					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCACCCTCCCGACCAGAGGC	0.493000													10	23					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26663805	26663805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26663805G>A	ENST00000527815.1	-	9	1137	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	AIM1L_ENST00000308182.5_Missense_Mutation_p.P192L|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	192	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGACCAGTCTGGGTATTCCCC	0.617000													59	73					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889360	23889360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23889360G>A	ENST00000532292.1	-	1	1815	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ATACTCTGCGGGCTCAGTGTA	0.502000													17	20					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17962643	17962643	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:17962643G>A	ENST00000458468.1	+	0	579				MIR125B2_ENST00000385128.1_RNA	NR_027790.1																						TAGGCGGAGGGGAACCAGCAG	0.438000													6	22					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73593698	73593698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:73593698C>T	ENST00000339362.5	+	29	4649	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F	NEO1_ENST00000558964.1_Missense_Mutation_p.S1390F|NEO1_ENST00000261908.6_Missense_Mutation_p.S1401F|NEO1_ENST00000560262.1_Missense_Mutation_p.S1348F			Q92859	NEO1_HUMAN	neogenin 1	1401					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGACAGCCTCCATCGGGACT	0.567000													27	44					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352349	38352349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:38352349C>T	ENST00000322350.5	+	5	807	c.461C>T	c.(460-462)tCg>tTg	p.S154L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.S154L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	154	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				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)					ATTGTGGTTTCGGATTCTGAG	0.522000													14	130					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176301345G>A	ENST00000329542.4	+	8	1430	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D346N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	386					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			TCCCCGGCAGGATGGGCCCAG	0.647000													13	132					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934050	10934050	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10934050G>A	ENST00000298232.7	-	15	1240	c.873C>T	c.(871-873)gtC>gtT	p.V291V	TPTE_ENST00000342420.5_Silent_p.V271V|TPTE_ENST00000361285.4_Silent_p.V309V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	309	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGAGTGGGGACATTATGAT	0.303000													22	143					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468083	120468083	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:120468083C>T	ENST00000256646.2	-	25	4575	c.4356G>A	c.(4354-4356)ggG>ggA	p.G1452G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1452	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGTCACCCCCATCCCACT	0.582000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				51	57					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29092295	29092295	+	RNA	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:29092295C>T	ENST00000569815.1	-	0	220					NR_047567.1																						GTCGGTTGCTCCGGTACCAAC	0.493000													5	15					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632694	29632694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:29632694G>A	ENST00000278882.3	+	8	889	c.509G>A	c.(508-510)gGa>gAa	p.G170E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGAAAGATGGATTTTTGCAT	0.318000													34	637					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782767	149782767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:149782767C>T	ENST00000009530.7	-	7	735	c.734G>A	c.(733-735)gGg>gAg	p.G245E	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	245	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGATGCTCCCATAGCACTG	0.597000			T	ROS1	NSCLC								10	92					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392222	78392222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:78392222C>T	ENST00000238561.5	+	9	1223	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.P307L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	382	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GATCTCTACCCCTTGTTTGCC	0.602000													130	125					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502786	20502786	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20502786G>A	ENST00000315693.2	-	1	133	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCAAGATGAGCAGGTTTC	0.403000													3	27					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764153	140764153	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140764153C>T	ENST00000518325.1	+	1	1687	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGAGATCCTGTACCCGGC	0.622000													24	154					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152165	66152165	+	RNA	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:66152165G>A	ENST00000489520.2	-	0	778					NR_026825.2																						GTCTCTTCAGGATCTCTGTAG	0.478000													3	12					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21978591	21978591	+	Missense_Mutation	SNP	G	G	A	rs140534514	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21978591G>A	ENST00000381418.4	-	10	3834	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	HR_ENST00000312841.8_Missense_Mutation_p.P785L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCAGGGCCGGAGTGACGGG	0.662000													35	64					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115146917	115146917	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:115146917T>C	ENST00000250535.4	-	3	900	c.344A>G	c.(343-345)aAt>aGt	p.N115S	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	115					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	GACCATCTCATTGGATTTTTT	0.408000													26	171					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012984	73012984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:73012984G>A	ENST00000308744.6	+	4	1122	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	NPFFR2_ENST00000395999.1_Missense_Mutation_p.G243R|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G240R|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	342					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CATCATGTATGGAAGGATTGG	0.512000													27	55					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095835	83095835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:83095835G>A	ENST00000307792.3	-	4	886	c.419C>T	c.(418-420)cCa>cTa	p.P140L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P80L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	140	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGCACAAACTGGATCAAAAGC	0.383000													27	69					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	G	A	rs149076914		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151935417G>A	ENST00000393902.3	-	3	1317	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_ENST00000370278.3_Silent_p.F250F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000													99	37					0	0	1	0	0
NSUN3	63899	broad.mit.edu	37	3	93813945	93813945	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:93813945C>T	ENST00000314622.4	+	5	901	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	230							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						AGAAGGCATCCTGTAGGATAA	0.378000													37	69					0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541147	5541147	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:5541147G>A	ENST00000380332.3	-	1	386	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	85	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CGCGGAAGGCGACCTGCAGGT	0.697000													13	33					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35514221	35514221	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:35514221C>T	ENST00000599564.1	+	18	2255	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	GRAMD1A_ENST00000411896.2_Silent_p.S634S|GRAMD1A_ENST00000317991.5_Silent_p.S645S|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Silent_p.S407S			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	645						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTTTGAGTCCTGGCACAGCC	0.647000													92	287					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870102	4870102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4870102G>A	ENST00000322101.2	-	1	412	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAAGACATGGATAAAAACC	0.567000													36	52					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49448111	49448111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49448111C>T	ENST00000221403.2	+	7	966	c.926C>T	c.(925-927)tCg>tTg	p.S309L	DHDH_ENST00000523250.1_Missense_Mutation_p.S170L|DHDH_ENST00000522614.1_Missense_Mutation_p.S217L	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	309					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		ATTCCCCTGTCGGAAAGTGAG	0.522000													55	85					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132101146	132101146	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:132101146T>A	ENST00000296873.7	-	2	389	c.106A>T	c.(106-108)Agc>Tgc	p.S36C	SEPT8_ENST00000378721.4_Missense_Mutation_p.S36C|SEPT8_ENST00000458488.2_Missense_Mutation_p.S36C|SEPT8_ENST00000378719.2_Missense_Mutation_p.S36C|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378706.1_Missense_Mutation_p.S36C|SEPT8_ENST00000378701.1_Missense_Mutation_p.S36C|SEPT8_ENST00000378699.2_5'UTR	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	36					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCGACTTGCTGACCAGCTGG	0.602000													24	132					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183097779	183097779	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183097779C>T	ENST00000258341.4	+	18	3431	c.3174C>T	c.(3172-3174)aaC>aaT	p.N1058N	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1058	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATAGCAAACCTTGGAACTG	0.458000													15	43					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28906197	28906197	+	Silent	SNP	C	C	T	rs145073993		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28906197C>T	ENST00000395503.4	+	12	1526	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	ATP2A1_ENST00000536376.1_Silent_p.L323L|ATP2A1_ENST00000357084.3_Silent_p.L448L	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	448					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ACTCACCACCCTGGTGGAGAA	0.602000													24	32					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892806	88892806	+	Silent	SNP	A	A	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:88892806A>G	ENST00000556553.1	+	6	1066	c.507A>G	c.(505-507)agA>agG	p.R169R	SPATA7_ENST00000356583.5_Silent_p.R169R|SPATA7_ENST00000393545.4_Silent_p.R201R|SPATA7_ENST00000045347.7_Silent_p.R201R			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	201					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGTATGGCAGAAGGCCCAGAA	0.507000													34	38					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45128247	45128247	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:45128247C>T	ENST00000403581.1	+	8	1209	c.600C>T	c.(598-600)atC>atT	p.I200I	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Silent_p.I177I|ARHGAP8_ENST00000517296.3_Silent_p.I177I|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.I177I	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCCCTGCCATCGTGCAGATGC	0.667000													17	34					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654857	29654857	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:29654857G>A	ENST00000358273.4	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_ENST00000356175.3_Splice_Site_p.R1849_splice|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1870					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	13					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	675940	675940	+	Silent	SNP	G	G	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:675940G>T	ENST00000535977.1	+	6	606	c.384G>T	c.(382-384)ctG>ctT	p.L128L	RAB40C_ENST00000539661.1_Silent_p.L128L|RAB40C_ENST00000538492.1_Silent_p.L128L|RAB40C_ENST00000248139.3_Silent_p.L128L	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	128					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GAAACCGGCTGCACCTGGCCT	0.642000													15	18					1.33834e-09	1.35068e-09	1	1	0
GNRH2	2797	broad.mit.edu	37	20	3025446	3025446	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3025446C>T	ENST00000380347.2	+	2	660	c.255C>T	c.(253-255)tcC>tcT	p.S85S	GNRH2_ENST00000359987.1_Silent_p.S84S|GNRH2_ENST00000359100.2_Silent_p.S85S|GNRH2_ENST00000380346.2_Silent_p.S84S|GNRH2_ENST00000245983.2_Silent_p.S92S			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	92					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						CCCAGTGGTCCCTTCACAGGA	0.642000													7	28					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816271	156816271	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156816271C>T	ENST00000347377.6	+	29	3713	c.3282C>T	c.(3280-3282)gtC>gtT	p.V1094V	CYFIP2_ENST00000541131.1_Silent_p.V1019V|CYFIP2_ENST00000522463.1_Silent_p.V898V|CYFIP2_ENST00000318218.6_Silent_p.V1119V|CYFIP2_ENST00000435847.2_Silent_p.V793V|CYFIP2_ENST00000377576.3_Silent_p.V1094V|CYFIP2_ENST00000521420.1_Silent_p.V1068V|CYFIP2_ENST00000442283.2_3'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1119					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTCGAGGTCATCCTGACCC	0.612000													13	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582062	179582062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179582062G>A	ENST00000589042.1	-	88	25623	c.25399C>T	c.(25399-25401)Ctt>Ttt	p.L8467F	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L7223F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L8150F|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8150	Ig-like 67.						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)			CCAAGAGCAAGATCTACTGAT	0.418000													15	33					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151141550	151141550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151141550C>T	ENST00000368905.4	+	7	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	228					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ACCTGATCTCCCCTTGGACTG	0.438000													39	98					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123814471G>A	ENST00000321252.2	-	1	109	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488000													10	67					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76958	76958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:76958C>T	ENST00000382410.2	+	2	371	c.371C>T	c.(370-372)cCa>cTa	p.P124L		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	124					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTATGCCACCATCTGAGGCC	0.443000													113	203					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246215	45246215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45246215C>T	ENST00000263765.4	+	8	1541	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.S397F|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Missense_Mutation_p.S431F			Q9NQV5	PRD11_HUMAN	PR domain containing 11	431										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GCCGAGGCCTCCCTTGCATCT	0.547000													64	182					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71209717	71209717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:71209717G>A	ENST00000272421.6	+	5	1059	c.793G>A	c.(793-795)Gat>Aat	p.D265N	ANKRD53_ENST00000457410.1_Missense_Mutation_p.D231N|ANKRD53_ENST00000441349.1_Missense_Mutation_p.D176N|ANKRD53_ENST00000360589.3_Missense_Mutation_p.D265N|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	265										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GTTCTTGAAGGATGCCATGTG	0.542000													22	51					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87746109	87746109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:87746109C>T	ENST00000398204.4	+	7	910	c.587C>T	c.(586-588)tCc>tTc	p.S196F	ADAM22_ENST00000398209.3_Missense_Mutation_p.S196F|ADAM22_ENST00000398201.4_Missense_Mutation_p.S196F|ADAM22_ENST00000439864.1_Missense_Mutation_p.S196F|ADAM22_ENST00000315984.7_Missense_Mutation_p.S196F|ADAM22_ENST00000265727.7_Missense_Mutation_p.S196F	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	196					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGAATTTTCCTTGGATGAT	0.318000													15	47					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28906196	28906196	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28906196C>T	ENST00000395503.4	+	12	1525	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	ATP2A1_ENST00000536376.1_Silent_p.T322T|ATP2A1_ENST00000357084.3_Silent_p.T447T	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	447					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CACTCACCACCCTGGTGGAGA	0.602000													23	33					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29542631	29542631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29542631G>A	ENST00000373791.3	-	3	436	c.64C>T	c.(64-66)Cct>Tct	p.P22S	MECR_ENST00000263702.6_Missense_Mutation_p.P98S|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	98					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)		GGCAGTTCAGGAAGGAATCCG	0.552000													31	89					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042818	31042818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31042818C>T	ENST00000343605.4	+	2	1652	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	285	Leu-rich.					integral to membrane		p.H285N(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTCACCGTCCACGTCCTGGG	0.637000													39	90					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471062	76471062	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76471062A>T	ENST00000396423.2	+	8	1007	c.883A>T	c.(883-885)Aaa>Taa	p.K295*	HNF4G_ENST00000354370.1_Nonsense_Mutation_p.K258*	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	258					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGATCCAGTAAAAATTAAGAA	0.408000													26	58					0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153587777	153587777	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:153587777C>T	ENST00000368702.1	-	4	383	c.111G>A	c.(109-111)ggG>ggA	p.G37G	S100A14_ENST00000368701.1_Silent_p.G37G|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000476873.1_Silent_p.G37G|S100A14_ENST00000344616.2_Silent_p.G37G			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	37	EF-hand 1.				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGTCTCCTTCCCACCCTCCA	0.592000													39	49					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872102	213872102	+	Silent	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:213872102C>T	ENST00000457361.1	-	8	1731	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	IKZF2_ENST00000342002.2_Silent_p.G527G|IKZF2_ENST00000374319.4_Silent_p.G495G|IKZF2_ENST00000451136.2_Silent_p.G449G|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Silent_p.G447G|IKZF2_ENST00000434687.1_Silent_p.G521G|IKZF2_ENST00000374327.4_Silent_p.G376G	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATGTGTGCTCCCCTCGAACAA	0.483000													32	51					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56228155	56228155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56228155C>T	ENST00000332836.2	-	5	2296	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	757						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCATTCCTTCGTCCCTCAAG	0.527000													45	63					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101520726	101520726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101520726C>T	ENST00000392979.3	+	26	3002	c.2641C>T	c.(2641-2643)Cga>Tga	p.R881*	ANO4_ENST00000550015.1_Nonsense_Mutation_p.R436*|ANO4_ENST00000392977.3_Nonsense_Mutation_p.R916*|ANO4_ENST00000299222.9_Nonsense_Mutation_p.R436*	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	916						chloride channel complex	chloride channel activity			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						CCTAAGGGATCGAATGAGAAG	0.438000										HNSCC(74;0.22)			29	47					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49447730	49447730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49447730C>T	ENST00000374201.3	-	7	1008	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E205K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E212K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	236					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)		GTGCTTCTTTCTGAAACTAAT	0.502000													7	46					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47535924	47535924	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47535924G>A	ENST00000300527.4	+	7	961	c.855_splice	c.e7-1	p.G286_splice	COL6A2_ENST00000357838.4_Splice_Site_p.G286_splice|COL6A2_ENST00000409416.1_Splice_Site_p.G286_splice|COL6A2_ENST00000397763.1_Splice_Site_p.G286_splice|COL6A2_ENST00000310645.5_Splice_Site_p.G286_splice	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	286	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCACAGGGAGACCCGGGC	0.682000													5	10					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812539	29812539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:29812539C>T	ENST00000375398.2	-	17	3453	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	SVIL_ENST00000375400.3_Missense_Mutation_p.E576K|SVIL_ENST00000355867.4_Missense_Mutation_p.E1002K			O95425	SVIL_HUMAN	supervillin	1002					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCGCCCGTTCCAGGCTTCCT	0.517000													16	36					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613971	135613971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:135613971G>A	ENST00000520727.1	-	7	2254	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	ZFAT_ENST00000520356.1_Missense_Mutation_p.S652L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S652L|ZFAT_ENST00000377838.3_Missense_Mutation_p.S664L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S652L|ZFAT_ENST00000523399.1_Missense_Mutation_p.S602L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCACCAGCTGAAAGCACAGC	0.597000													22	47					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113607479	113607479	+	Silent	SNP	G	G	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:113607479G>A	ENST00000200135.3	-	15	2226	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	694					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAAATACTTGGGGTCCTTCAT	0.378000													33	100					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418030	179418030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179418030C>T	ENST00000589042.1	-	335	89821	c.89597G>A	c.(89596-89598)aGa>aAa	p.R29866K	TTN_ENST00000460472.2_Missense_Mutation_p.R20801K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27298K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20926K|TTN_ENST00000591111.1_Missense_Mutation_p.R28225K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20993K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28225	Fibronectin type-III 118.						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)			AGGTGGAGGTCTGCCTTTAAA	0.438000													65	117					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637381	23637382	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:23637381_23637382delAG	ENST00000478691.1	-	10	1444_1445	c.1173_1174delCT	c.(1171-1176)ccacfs	p.PY391fs	HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.PY451fs|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.PY489fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.PY329fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.PY350fs|HNRNPR_ENST00000374612.1_Frame_Shift_Del_p.PY489fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.PY492fs	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	489	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAGCCGTAGTAGGGATCTTCAT	0.510													51	198	---	---	---	---					
ZNF644	84146	broad.mit.edu	37	1	91404473	91404473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:91404473delT	ENST00000370440.1	-	3	2655	c.2438delA	c.(2437-2439)agfs	p.K813fs	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Del_p.K813fs|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGATTCCTTAATTACTCT	0.373													36	99	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563857	176563857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176563857delG	ENST00000367662.3	+	3	2281	c.1117delG	c.(1117-1119)gafs	p.G373fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.G373fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	373					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						CACTTACGATGGACGGCACAT	0.572													36	84	---	---	---	---					
SLC4A7	9497	broad.mit.edu	37	3	27465562	27465564	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:27465562_27465564delCCA	ENST00000295736.5	-	8	1273_1275	c.1203_1205delTGG	c.(1201-1206)gga>gg	p.GG401del	SLC4A7_ENST00000428386.1_In_Frame_Del_p.GG277del|SLC4A7_ENST00000388777.4_In_Frame_Del_p.VE4del|SLC4A7_ENST00000455077.1_In_Frame_Del_p.GG282del|SLC4A7_ENST00000435667.2_In_Frame_Del_p.GG286del|SLC4A7_ENST00000437179.1_In_Frame_Del_p.GG282del|SLC4A7_ENST00000445684.1_In_Frame_Del_p.GG397del|SLC4A7_ENST00000446700.1_In_Frame_Del_p.GG393del|SLC4A7_ENST00000425128.2_In_Frame_Del_p.GG393del|SLC4A7_ENST00000440156.1_In_Frame_Del_p.GG397del|SLC4A7_ENST00000454389.1_In_Frame_Del_p.GG410del	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	401						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTCTCTGCTTCCACCACTTCCAT	0.350													21	98	---	---	---	---					
PDE10A	10846	broad.mit.edu	37	6	165862417	165862417	+	Splice_Site	DEL	T	T	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:165862417delT	ENST00000366882.1	-	6	519	c.366_splice	c.e6+1	p.N122_splice	PDE10A_ENST00000354448.4_Splice_Site_p.N122_splice|PDE10A_ENST00000539869.2_Splice_Site_p.N132_splice			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	122	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATACTTACATTATTGCACTC	0.338													17	46	---	---	---	---					
GIMAP4	55303	broad.mit.edu	37	7	150269316	150269316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150269316delG	ENST00000255945.2	+	3	333	c.158delG	c.(157-159)cgfs	p.R53fs	GIMAP4_ENST00000461940.1_Frame_Shift_Del_p.R67fs|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	53							GTP binding	p.R53Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGGCCGGAAAGTGTTT	0.473													30	76	---	---	---	---					
RBM12B	389677	broad.mit.edu	37	8	94746423	94746424	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:94746423_94746424delAA	ENST00000399300.2	-	3	2428_2429	c.2215_2216delTT	c.(2215-2217)cfs	p.F739fs	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	739							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGTCTCCGGAAATGCTCTGGG	0.634													101	214	---	---	---	---					
FOCAD	54914	broad.mit.edu	37	9	20948332	20948345	+	Frame_Shift_Del	DEL	AAAAGCTGAAGACT	AAAAGCTGAAGACT	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:20948332_20948345delAAAAGCTGAAGACT	ENST00000380249.1	+	33	4102_4115	c.3738_3751delAAAAGCTGAAGACT	c.(3736-3753)ggtgfs	p.GKAEDL1246fs	FOCAD_ENST00000338382.6_Frame_Shift_Del_p.GKAEDL1246fs|FOCAD_ENST00000605086.1_Frame_Shift_Del_p.GKAEDL682fs	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1246						integral to membrane	binding										GTGGACATGGAAAAGCTGAAGACTTGGGCAGCAA	0.374													12	50	---	---	---	---					
EHBP1L1	254102	broad.mit.edu	37	11	65350324	65350324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:65350324delG	ENST00000309295.4	+	9	2446	c.2181delG	c.(2179-2181)cafs	p.Q727fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	727	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TAGGGACCCAGGAGATAACAG	0.517													10	21	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29423429	29423429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:29423429delC	ENST00000182377.4	+	2	315	c.47delC	c.(46-48)agfs	p.T16fs	FAR2_ENST00000547116.1_Intron|FAR2_ENST00000536681.2_Frame_Shift_Del_p.T16fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	16					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.T16M(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ATTCTCATCACGGGGGCCACA	0.502													19	66	---	---	---	---					
SPRYD3	84926	broad.mit.edu	37	12	53467119	53467119	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53467119delC	ENST00000301463.4	-	6	730	c.644delG	c.(643-645)atfs	p.S215fs	SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.S252fs	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	215										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATCCTCGTAACTGTCCACCAT	0.632													7	26	---	---	---	---					
INHBC	3626	broad.mit.edu	37	12	57828910	57828910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57828910delG	ENST00000309668.2	+	1	368	c.241delG	c.(241-243)ggfs	p.G81fs	INHBC_ENST00000550133.1_Frame_Shift_Del_p.G81fs	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	81					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCACCTCCACGGGGTCCCACA	0.567													24	48	---	---	---	---					
PHLDA1	22822	broad.mit.edu	37	12	76425154	76425155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:76425154_76425155insG	ENST00000266671.5	-	1	2557_2558	c.367_368insC	c.(367-369)cgcfs	p.R123fs	PHLDA1_ENST00000602540.1_5'UTR|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	123					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TCCAGCCGCGCGGGCCGGGGGC	0.728													10	21	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312													2	4	---	---	---	---					
TUBGCP5	114791	broad.mit.edu	37	15	22849078	22849078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:22849078delC	ENST00000283645.4	+	10	1255	c.1125delC	c.(1123-1125)ttfs	p.F375fs	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Frame_Shift_Del_p.F375fs	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	375					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCATTAGTTTCAAAGAGGAAC	0.388													17	25	---	---	---	---					
TCEB2	6923	broad.mit.edu	37	16	2822061	2822061	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2822061delG	ENST00000409477.1	-	3	351	c.272delC	c.(271-273)cgfs	p.P92fs	TCEB2_ENST00000409906.4_Frame_Shift_Del_p.P97fs|TCEB2_ENST00000262306.7_Frame_Shift_Del_p.P97fs|TCEB2_ENST00000572954.1_Frame_Shift_Del_p.R61fs			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	97					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						CAGCTCTGGCGGGCTGGAAAA	0.612													15	23	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30500637	30500637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30500637delG	ENST00000356798.6	+	11	1323	c.1143delG	c.(1141-1143)aafs	p.K381fs	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.K298fs|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	381					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTGACCTGAAGGCAGACCTGC	0.552													15	82	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67267864	67267864	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67267864delC	ENST00000258201.4	-	13	1989	c.1742delG	c.(1741-1743)gafs	p.G581fs	FHOD1_ENST00000567687.1_Frame_Shift_Del_p.G160fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	581	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGGGGTACTCCCGAGAGCAG	0.622													18	37	---	---	---	---					
HOXB3	3213	broad.mit.edu	37	17	46628070	46628070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46628070delA	ENST00000470495.1	-	2	2369	c.922delT	c.(922-924)acfs	p.Y308fs	HOXB3_ENST00000498678.1_Frame_Shift_Del_p.Y308fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.Y308fs|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.Y176fs|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.Y174fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.Y235fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.Y308fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.Y235fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.Y176fs|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	308					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGGGCTGGTAGTTGGAGGGC	0.662											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	182	---	---	---	---					
TSSK6	83983	broad.mit.edu	37	19	19625912	19625913	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19625912_19625913insG	ENST00000360913.3	-	1	925_926	c.324_325insC	c.(322-327)ccgagtfs	p.S109fs	TSSK6_ENST00000585580.3_Frame_Shift_Ins_p.S109fs			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	109	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G109R(1)|p.P108P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCCTGAACTCCGGGGATGCGCC	0.634													36	36	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54759955	54759957	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54759955_54759957delGTT	ENST00000450632.1	-	4	654_656	c.577_579delAAC	c.(577-579)del	p.N193del	LILRB5_ENST00000316219.5_In_Frame_Del_p.N202del|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_In_Frame_Del_p.N202del			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	202	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)		ACACCTGAGGGTTTTTCCTGTAA	0.527													16	77	---	---	---	---					
PHACTR3	116154	broad.mit.edu	37	20	58348385	58348385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:58348385delT	ENST00000371015.1	+	6	1270	c.803delT	c.(802-804)ccfs	p.L268fs	PHACTR3_ENST00000355648.4_Frame_Shift_Del_p.L227fs|PHACTR3_ENST00000395636.2_Frame_Shift_Del_p.L227fs|PHACTR3_ENST00000395639.4_Frame_Shift_Del_p.L157fs|PHACTR3_ENST00000541461.1_Frame_Shift_Del_p.L227fs|PHACTR3_ENST00000361300.4_Frame_Shift_Del_p.L157fs|PHACTR3_ENST00000359926.3_Frame_Shift_Del_p.L265fs	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	268						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)			GACCCTTCCCTCCGGGGCCAG	0.642													65	135	---	---	---	---