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
TRAV8-6	28680	broad.mit.edu	37	14	22447359	22447359	+	RNA	SNP	G	G	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:22447359G>C	ENST00000390443.3	+	0	560																											TGCTGTGAGTGACACAGTGCC	0.483000													23	24					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406887	55406887	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:55406887C>A	ENST00000398661.2	-	3	381	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G54W|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G54W|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G54W|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G54W|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.G54W	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	84							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCCTAGGCCCAACTTCTACT	0.323000													33	53					8.20599e-20	1.05914e-19	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54914846	54914846	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:54914846G>T	ENST00000474759.1	+	21	1916	c.1868G>T	c.(1867-1869)gGt>gTt	p.G623V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G529V|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G623V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G623V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	623						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTTCCAGAGGTCATGGGAAA	0.458000													60	283					5.02462e-34	6.97166e-34	1	1	0
SELP	6403	broad.mit.edu	37	1	169588373	169588373	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:169588373T>A	ENST00000263686.6	-	2	125	c.88A>T	c.(88-90)Atc>Ttc	p.I30F	SELP_ENST00000367786.2_Missense_Mutation_p.I30F|SELP_ENST00000367792.2_Missense_Mutation_p.I30F|SELP_ENST00000458599.2_Missense_Mutation_p.I30F|SELP_ENST00000367793.2_Missense_Mutation_p.I30F|SELP_ENST00000367794.2_Missense_Mutation_p.I30F|SELP_ENST00000367788.2_Missense_Mutation_p.I30F|SELP_ENST00000367791.2_Missense_Mutation_p.I30F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	30					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTACCAGAGATCAGGGCACTG	0.423000													21	41					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24750793	24750793	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:24750793G>T	ENST00000336930.6	+	2	207	c.141G>T	c.(139-141)aaG>aaT	p.K47N	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	47						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGCTGACAAAGACATCAAGAG	0.413000													14	57					0.00316338	0.00328164	1	1	0
MED12	9968	broad.mit.edu	37	X	70342142	70342142	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:70342142T>C	ENST00000333646.6	+	8	1393	c.1194T>C	c.(1192-1194)ccT>ccC	p.P398P	MED12_ENST00000374102.1_Silent_p.P398P|MED12_ENST00000374080.3_Silent_p.P398P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	398					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACCACTTGCCTATTGCCCCGT	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	195					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811953	140811953	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:140811953G>A	ENST00000509479.2	-	2	1493	c.637C>T	c.(637-639)Cct>Tct	p.P213S	MAML3_ENST00000327122.5_Missense_Mutation_p.P57S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	213					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GAAGCTGAAGGCAGTGGCATG	0.463000													8	33					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71209481	71209481	+	Silent	SNP	C	C	T	rs143948838		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:71209481C>T	ENST00000319023.2	+	20	2165	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	NADSYN1_ENST00000539574.1_Silent_p.A399A|NADSYN1_ENST00000530055.1_Silent_p.A288A	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	659	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGTACCACGCCGAGAACTACA	0.512000													20	90					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732116	100732116	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:100732116C>T	ENST00000306085.6	+	3	1820	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	508					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCGGTCCCCCCGGATCACC	0.647000													17	108					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35684010	35684010	+	Silent	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr20:35684010T>A	ENST00000373664.3	-	11	1479	c.1413A>T	c.(1411-1413)atA>atT	p.I471I	RBL1_ENST00000344359.3_Silent_p.I471I	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	471	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGTCTCTAGTATTTTATAAT	0.363000													32	51					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80758792	80758792	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:80758792G>T	ENST00000355528.4	+	9	1000	c.870G>T	c.(868-870)caG>caT	p.Q290H	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.Q290H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	290					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGAGCAACCAGACCCTGCTGC	0.612000													10	78					3.07112e-06	3.37519e-06	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118558666	118558666	+	Silent	SNP	G	G	T	rs146386019		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:118558666G>T	ENST00000336338.5	-	29	4274	c.4209C>A	c.(4207-4209)atC>atA	p.I1403I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1403						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)		CTTTGGTGCCGATCCGATTTC	0.453000													11	57					1.49906e-05	1.61549e-05	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221680	5221680	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:5221680A>T	ENST00000321255.1	-	1	250	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	84					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)		CACAGTGGACAGCCCCATGCA	0.527000													25	61					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019994	20019994	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:20019994C>T	ENST00000551509.1	-	1	278	c.227G>A	c.(226-228)gGc>gAc	p.G76D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	76										endometrium(4)|kidney(1)|lung(4)	9						GTTGCTCTTGCCGCTCCCCCT	0.592000													28	582					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74908315	74908315	+	Missense_Mutation	SNP	C	C	T	rs144948949	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:74908315C>T	ENST00000262144.6	-	26	2847	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	906										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACCTCACTCCGGCAGTGGCT	0.567000													15	65					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56545069	56545069	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:56545069C>T	ENST00000390649.3	+	9	2609	c.2609C>T	c.(2608-2610)tCt>tTt	p.S870F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	870						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)		TTGTTGGAGTCTTTGAGGTAC	0.413000													39	219					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160716	51160716	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:51160716G>T	ENST00000414786.2	+	21	4640	c.4413G>T	c.(4411-4413)ggG>ggT	p.G1471G	SHANK3_ENST00000445220.2_Silent_p.G1487G|SHANK3_ENST00000262795.3_Silent_p.G1501G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1501										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGCTCCCTGGGCCTGAAGACG	0.672000													10	50					3.27435e-08	3.76635e-08	1	1	0
STK11	6794	broad.mit.edu	37	19	1219384	1219384	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:1219384A>T	ENST00000326873.7	+	3	1609	c.436A>T	c.(436-438)Aag>Tag	p.K146*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	146	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCCGGAGAAGCGTTTCCC	0.692000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	8					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138703415	138703415	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:138703415G>A	ENST00000389532.4	-	17	4613	c.4549C>T	c.(4549-4551)Cgt>Tgt	p.R1517C	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1528C|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1239C|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1517	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCAGCATCACGAAACAGTATG	0.493000													3	17					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342910	48342910	+	Missense_Mutation	SNP	G	G	T	rs61748454		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:48342910G>T	ENST00000221996.7	+	4	792	c.586G>T	c.(586-588)Gcc>Tcc	p.A196S	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.A196S	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	196					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)		CATGACCTACGCCCCGGCCTC	0.667000													21	62					2.39556e-15	2.8903e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113518972	113518972	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr8:113518972C>A	ENST00000297405.5	-	29	5087	c.4843G>T	c.(4843-4845)Gac>Tac	p.D1615Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1615Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1511Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1575Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1615	CUB 9.					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						ATAGTCCAGTCACAGTCTCTG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	157					9.86323e-18	1.25122e-17	1	1	0
USH2A	7399	broad.mit.edu	37	1	216595492	216595492	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:216595492G>T	ENST00000366943.2	-	2	573	c.187C>A	c.(187-189)Cga>Aga	p.R63R	USH2A_ENST00000366942.3_Silent_p.R63R|USH2A_ENST00000307340.3_Silent_p.R63R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	63					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)		AAAGTGCTTCGGTCTGGGAGT	0.493000										HNSCC(13;0.011)			8	45					0.00448238	0.00460689	1	1	0
UROC1	131669	broad.mit.edu	37	3	126220755	126220755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:126220755C>T	ENST00000383579.3	-	10	972	c.939G>A	c.(937-939)tgG>tgA	p.W313*	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGAGGCCGGCCCAGCCCAGGG	0.647000													7	31					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150078094	150078094	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:150078094C>T	ENST00000199814.4	-	4	359	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTGACAGACATTCTTCAAT	0.463000													22	131					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053712	50053712	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:50053712C>G	ENST00000376042.1	+	6	2841	c.2543C>G	c.(2542-2544)cCc>cGc	p.P848R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P848R			Q8WWL7	CCNB3_HUMAN	cyclin B3	848					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)					CTCAAGGAGCCCAGTGTTGAC	0.532000													4	19					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40135610	40135610	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:40135610T>A	ENST00000457167.4	-	10	1291	c.1055A>T	c.(1054-1056)gAa>gTa	p.E352V	DNAJC7_ENST00000316603.7_Missense_Mutation_p.E296V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.E296V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	352					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GTATACTTTTTCATAGTCTCG	0.373000													7	8					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10224996	10224996	+	Silent	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:10224996T>A	ENST00000418404.3	-	23	3127	c.2964A>T	c.(2962-2964)gcA>gcT	p.A988A	MYH13_ENST00000252172.4_Silent_p.A988A|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Silent_p.A988A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	988					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTCTTCAAGTGCTGTCATTT	0.378000													9	26					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232156124	232156124	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:232156124A>T	ENST00000349938.4	+	18	1879	c.1685A>T	c.(1684-1686)cAg>cTg	p.Q562L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	562							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGATCCGCCAGATAGAATTC	0.388000													62	182					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													16	302					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003884	228003884	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:228003884G>T	ENST00000366757.3	+	2	266	c.242G>T	c.(241-243)gGc>gTc	p.G81V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	81	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G81V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACTACGCAGGCCTCCACGTC	0.672000													18	165					3.65163e-15	4.38195e-15	1	1	0
SATB1	6304	broad.mit.edu	37	3	18390868	18390868	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:18390868G>T	ENST00000338745.6	-	11	3820	c.2086C>A	c.(2086-2088)Cag>Aag	p.Q696K	SATB1_ENST00000454909.2_Missense_Mutation_p.Q696K|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.Q728K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	696					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TAGTACCGCTGGTTCTGAAAG	0.502000													40	230					1.31131e-34	1.83088e-34	1	1	0
LGR6	59352	broad.mit.edu	37	1	202287853	202287853	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:202287853G>A	ENST00000367278.3	+	18	2511	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	LGR6_ENST00000255432.7_Missense_Mutation_p.V756I|LGR6_ENST00000439764.2_Missense_Mutation_p.V669I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	808						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCGAGGCCGTCAAGTCTGT	0.647000													5	262					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061952	9061952	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:9061952C>A	ENST00000397910.4	-	3	25697	c.25494G>T	c.(25492-25494)gaG>gaT	p.E8498D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8500	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						GAGAACCTGTCTCAATAGTGA	0.483000													97	123					2.11273e-47	2.98743e-47	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30936564	30936564	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:30936564G>A	ENST00000355537.3	+	2	2242	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGAGCGGGGTCGGAGG	0.697000													20	13					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117106827	117106827	+	Translation_Start_Site	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:117106827G>A	ENST00000262820.3	-	0	874				KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000540167.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13						cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTAAAGAGCGTTTCCATAAC	0.463000													8	20					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903823	40903823	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:40903823C>A	ENST00000324001.7	-	7	706	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	146	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGGGACCCCCAGAGCCCCA	0.632000													6	9					1.12685e-05	1.22628e-05	1	1	0
FAP	2191	broad.mit.edu	37	2	163083063	163083063	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:163083063A>T	ENST00000188790.4	-	3	367	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	FAP_ENST00000443424.1_Missense_Mutation_p.Y54N	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	54					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AATGTTTTATAAGAAAATGTT	0.294000													16	45					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507000													3	88					0.00909568	0.00922028	1	1	0
GLI2	2736	broad.mit.edu	37	2	121742248	121742248	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:121742248G>A	ENST00000452319.1	+	12	1945	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.E629K|GLI2_ENST00000314490.11_Missense_Mutation_p.E301K			P10070	GLI2_HUMAN	GLI family zinc finger 2	629					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAGAGCACCGAGGCCAGCAG	0.672000													14	45					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417521	14417521	+	RNA	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:14417521G>T	ENST00000507941.1	+	0	133																											ATAAGGAAAAGAAGTGAGCAA	0.289000													3	26					3.59834e-05	3.84053e-05	1	1	0
TANC1	85461	broad.mit.edu	37	2	160035524	160035524	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:160035524G>T	ENST00000263635.6	+	14	2597	c.2360G>T	c.(2359-2361)gGa>gTa	p.G787V	TANC1_ENST00000454300.1_Missense_Mutation_p.G681V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	787						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGGAGCAGGGATGGGAAGAC	0.572000													83	249					1.61169e-53	2.29355e-53	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154393470	154393470	+	Silent	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:154393470C>A	ENST00000435029.4	+	1	211	c.51C>A	c.(49-51)cgC>cgA	p.R17R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	17	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCGTTGTCGCCCTCTGGTCC	0.537000													33	76					3.61848e-18	4.61668e-18	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89457224	89457224	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:89457224G>T	ENST00000336596.2	+	9	1930	c.1705G>T	c.(1705-1707)Ggc>Tgc	p.G569C	EPHA3_ENST00000494014.1_Missense_Mutation_p.G569C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	569						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTTCTGTGGCTATAAGTC	0.343000										TSP Lung(6;0.00050)			26	142					6.02846e-25	8.06215e-25	1	1	0
DMD	1756	broad.mit.edu	37	X	31838119	31838119	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:31838119C>G	ENST00000357033.4	-	50	7488	c.7282G>C	c.(7282-7284)Gct>Cct	p.A2428P	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.A2424P|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2428					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCCAGGAGCTAGGTCAGGC	0.453000													33	68					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576549	33576549	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:33576549C>A	ENST00000504830.1	-	19	3917	c.3582G>T	c.(3580-3582)atG>atT	p.M1194I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.M1109I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1194	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGCAAGTGGCATTTCTGTAC	0.502000										HNSCC(64;0.19)			22	153					6.28775e-32	8.67007e-32	1	1	0
C14orf177	283598	broad.mit.edu	37	14	99182568	99182568	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:99182568A>G	ENST00000325812.2	+	3	459	c.40A>G	c.(40-42)Aga>Gga	p.R14G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GGAGGCCACAAGAGGAGCTGC	0.567000													19	27					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563817	140563817	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:140563817G>T	ENST00000361016.2	+	1	2838	c.1683G>T	c.(1681-1683)gtG>gtT	p.V561V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		561	Cadherin 5.				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)			CGCCCTTCGTGCTGTACCCGC	0.716000													23	59					3.11337e-16	3.81861e-16	1	1	0
APOOL	139322	broad.mit.edu	37	X	84258934	84258934	+	Splice_Site	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:84258934G>A	ENST00000373173.2	+	1	102		c.e1+1			NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like							extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCATCAGGGTAAGCGAAAA	0.512000													39	157					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091401	17091401	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:17091401C>T	ENST00000443236.1	-	14	1663	c.1632G>A	c.(1630-1632)tcG>tcA	p.S544S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	497						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.S544S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGCTGGCCCGATAGCACAA	0.562000													3	94					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236154282	236154282	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:236154282G>T	ENST00000264187.6	-	14	2914	c.2832C>A	c.(2830-2832)acC>acA	p.T944T	NID1_ENST00000366595.3_Silent_p.T811T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	944					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGTAAATGGGTCCCAGGAG	0.587000													10	58					1.08611e-07	1.23018e-07	1	1	0
USP51	158880	broad.mit.edu	37	X	55514840	55514840	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:55514840C>A	ENST00000500968.3	-	2	615	c.533G>T	c.(532-534)gGc>gTc	p.G178V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	178					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTCCCCTAAGCCGCCAGGATC	0.617000													6	25					0.00116845	0.00121782	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	26					8.10497e-08	9.2272e-08	1	1	0
GCLC	2729	broad.mit.edu	37	6	53385639	53385639	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:53385639C>T	ENST00000229416.6	-	3	866	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	GCLC_ENST00000514004.1_Missense_Mutation_p.R128Q	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	128					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGCCTCCTTCCGGCGTTTTCG	0.458000													48	353					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562629	140562629	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:140562629T>A	ENST00000361016.2	+	1	1650	c.495T>A	c.(493-495)aaT>aaA	p.N165K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		165	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)			TAGGAAGCAATAATGTTCAAA	0.403000													13	47					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463878	104463878	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:104463878G>T	ENST00000372578.3	-	3	1111	c.1000C>A	c.(1000-1002)Ctt>Att	p.L334I	TEX13A_ENST00000372575.1_Missense_Mutation_p.L334I|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P333H	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCAGTCGGAAGGCAGCTGAGG	0.532000													13	53					4.3838e-07	4.91517e-07	1	1	0
TLR7	51284	broad.mit.edu	37	X	12906750	12906750	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:12906750T>C	ENST00000380659.3	+	3	3262	c.3123T>C	c.(3121-3123)taT>taC	p.Y1041Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1041					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATGTGGCCTATAGTCAGGTGT	0.473000													47	189					0	0	1	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550564	22550564	+	RNA	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:22550564C>T	ENST00000390285.2	+	0	327																											GGTCCCTGATCGGTTCTCTGG	0.557000													6	56					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463955	104463955	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:104463955A>G	ENST00000372578.3	-	3	1034	c.923T>C	c.(922-924)cTt>cCt	p.L308P	TEX13A_ENST00000372575.1_Missense_Mutation_p.L308P|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Silent_p.P307P	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGAGGAAAAAGGGCTTGAGT	0.522000													3	51					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693387	100693387	+	Missense_Mutation	SNP	A	A	G	rs144965245	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:100693387A>G	ENST00000259456.3	-	4	433	c.290T>C	c.(289-291)gTg>gCg	p.V97A		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	97				IV -> M (in Ref. 6; AAH48324).	cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTCTCCACTATTTCCTT	0.453000													18	57					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117124077	117124077	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:117124077G>A	ENST00000307564.4	-	9	2192	c.2031C>T	c.(2029-2031)agC>agT	p.S677S	AKNA_ENST00000374075.5_Silent_p.S596S|AKNA_ENST00000223791.3_Silent_p.S137S|AKNA_ENST00000312033.3_Silent_p.S677S|AKNA_ENST00000374088.3_Silent_p.S677S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGCTGGGGTGCTGTCCAGAG	0.617000													23	107					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871694	149871694	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:149871694G>T	ENST00000369153.2	+	3	746	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	BOLA1_ENST00000369150.1_Missense_Mutation_p.A28S|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.A28S			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	28						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGGATCCGGGGCCATCGGTCC	0.682000													24	58					2.39556e-15	2.8903e-15	1	1	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													6	55					2.17888e-05	2.33677e-05	1	1	0
CBR4	84869	broad.mit.edu	37	4	169923222	169923222	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:169923222C>T	ENST00000504480.1	-	4	699	c.535G>A	c.(535-537)Ggt>Agt	p.G179S	CBR4_ENST00000306193.3_Splice_Site_p.G179_splice|CBR4_ENST00000509108.1_5'UTR			Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	179					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TTTCACTAACCTGGTGCAACT	0.338000													10	34					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44040323	44040323	+	Missense_Mutation	SNP	A	A	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:44040323A>G	ENST00000543989.1	-	9	2408	c.703T>C	c.(703-705)Ttt>Ctt	p.F235L	ABCG5_ENST00000260645.1_Missense_Mutation_p.F630L|ABCG5_ENST00000405322.1_Missense_Mutation_p.F459L			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	630	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTGGAATAAATGAATACAAA	0.383000													11	33					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75532206	75532206	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:75532206G>A	ENST00000372841.3	+	1	158	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	AC022400.2_ENST00000595757.1_Missense_Mutation_p.A58V|FUT11_ENST00000394790.1_Missense_Mutation_p.A39T	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	39					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GGCGGAGTGGGCGGAACCGTG	0.721000													4	18					0	0	1	0	0
CHIC1	53344	broad.mit.edu	37	X	72783354	72783354	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:72783354G>A	ENST00000373504.6	+	1	319	c.234G>A	c.(232-234)gaG>gaA	p.E78E	CHIC1_ENST00000373502.5_Silent_p.E78E			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	78						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					TAGTGAGCGAGGAGCATCTGC	0.607000													3	11					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690600	77690600	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr8:77690600C>A	ENST00000521891.2	+	4	3698	c.3250C>A	c.(3250-3252)Cag>Aag	p.Q1084K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1058K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1058K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1058K|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1058						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)			CCAGCTCCACCAGCAAGGCCT	0.517000										HNSCC(33;0.089)			36	235					1.32136e-16	1.63878e-16	1	1	0
FOXC1	2296	broad.mit.edu	37	6	1611214	1611214	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:1611214C>G	ENST00000380874.2	+	1	534	c.534C>G	c.(532-534)gaC>gaG	p.D178E		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	178					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAAGAAGGACGCGGTGAAGG	0.706000													14	28					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793461	217793461	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:217793461G>A	ENST00000366935.3	-	2	547	c.437C>T	c.(436-438)tCt>tTt	p.S146F	GPATCH2_ENST00000366934.3_Missense_Mutation_p.S146F	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	146						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)		AGCAAAATCAGACTCATGCCA	0.448000													28	143					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820305	159820305	+	RNA	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:159820305T>A	ENST00000497452.1	-	0	517																											AAGCCCAGAATGAACGTTTGA	0.458000													10	35					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142742815	142742815	+	Splice_Site	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:142742815A>T	ENST00000473835.2	+	13	1320		c.e13-1		U2SURP_ENST00000397933.2_Intron|U2SURP_ENST00000493598.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTTCATATACAGACTCTGTCG	0.303000													8	42					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021985	120021985	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:120021985A>T	ENST00000379551.2	+	3	784	c.427A>T	c.(427-429)Att>Ttt	p.I143F	PRR16_ENST00000446965.1_Missense_Mutation_p.I96F|PRR16_ENST00000505123.1_Missense_Mutation_p.I96F|PRR16_ENST00000407149.2_Missense_Mutation_p.I166F	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	166	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCTAACAAAATTCCAAATGG	0.478000													9	44					0	0	1	0	0
C1ORF220	400798	broad.mit.edu	37	1	178514808	178514808	+	Missense_Mutation	SNP	G	G	T	rs145009184	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:178514808G>T	ENST00000367636.4	+	2	532	c.194G>T	c.(193-195)gGg>gTg	p.G65V	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							GGGACATGGGGGAGCAAGCCC	0.557000													21	76					1.55469e-16	1.91746e-16	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18729501	18729501	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:18729501G>T	ENST00000513874.1	-	20	3269	c.3130C>A	c.(3130-3132)Ccc>Acc	p.P1044T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	842										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						CCCTTGGTGGGAACGCCATCT	0.532000													42	77					9.22156e-22	1.21135e-21	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85461820	85461820	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr15:85461820G>T	ENST00000394573.1	+	10	1063	c.861G>T	c.(859-861)caG>caT	p.Q287H	SLC28A1_ENST00000286749.3_Missense_Mutation_p.Q287H|SLC28A1_ENST00000538177.1_Missense_Mutation_p.Q287H|SLC28A1_ENST00000537703.1_Missense_Mutation_p.Q209H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.Q287H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.Q287H	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	287					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCATGCAGTGGGTGATCC	0.557000													29	153					7.04047e-22	9.30348e-22	1	1	0
RNF139	11236	broad.mit.edu	37	8	125499537	125499537	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr8:125499537C>T	ENST00000303545.3	+	2	2019	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	549					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATGTGCAATCTGCTATCATG	0.373000													34	40					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607988	46607988	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:46607988G>A	ENST00000239174.6	-	1	371	c.279C>T	c.(277-279)taC>taT	p.Y93Y	HOXB1_ENST00000577092.1_Silent_p.Y93Y	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	93						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGAAGGCCCGTAGCTGGGGC	0.662000													4	145					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652157	15652157	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:15652157T>C	ENST00000262041.5	-	3	1179	c.770A>G	c.(769-771)aAg>aGg	p.K257R		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	257					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CACCAGTTCCTTTTCCCGAGC	0.507000													4	195					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364634	142364634	+	RNA	SNP	A	A	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:142364634A>G	ENST00000390397.2	+	0	305																											CGACAGGCACAGGCTAAATTC	0.493000													17	74					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													3	28					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195638	3195638	+	Missense_Mutation	SNP	G	G	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:3195638G>C	ENST00000323404.1	-	1	238	c.239C>G	c.(238-240)aCt>aGt	p.T80S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	80					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						TGATGGAACAGTGACGCTGAT	0.557000													4	35					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154245953	154245953	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:154245953C>G	ENST00000328703.7	+	2	408	c.195C>G	c.(193-195)ttC>ttG	p.F65L	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.F65L	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	65						actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTTCGGCTTCAGCTTCAGCC	0.527000									Kostmann syndrome				7	39					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15287910	15287910	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:15287910C>T	ENST00000546332.1	-	2	570	c.87G>A	c.(85-87)ttG>ttA	p.L29L	ASB9_ENST00000380485.3_Silent_p.L29L|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.L29L|ASB9_ENST00000380483.3_Silent_p.L29L	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	29					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CACCGCCCATCAATGGGTTTG	0.572000													30	93					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696967	109696967	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:109696967C>G	ENST00000465301.2	+	3	3368	c.3122C>G	c.(3121-3123)cCc>cGc	p.P1041R	RGAG1_ENST00000540313.1_Missense_Mutation_p.P1041R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1041										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGATCGATGCCCATGCCACTA	0.522000													31	83					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352357	70352357	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:70352357C>T	ENST00000333646.6	+	31	4583	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C	MED12_ENST00000374102.1_Missense_Mutation_p.R1462C|MED12_ENST00000374080.3_Missense_Mutation_p.R1462C|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1462					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCCTCTTCACGCAAAGAACG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	8					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128044495	128044495	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:128044495C>A	ENST00000493187.2	-	8	1397	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	ERCC3_ENST00000285398.2_Missense_Mutation_p.A376S			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	376					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|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|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGAACTGGGCTTTCCACTGC	0.562000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				49	102					1.47633e-17	1.86218e-17	1	1	0
MIR548I2	100302277	broad.mit.edu	37	4	9557790	9557790	+	RNA	SNP	G	G	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:9557790G>C	ENST00000408348.1	-	0	147					NR_031688.1																						TATAGGTGATGAGATGGATCA	0.393000													4	260					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060100	40060100	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:40060100G>A	ENST00000336649.4	+	23	3620	c.3620G>A	c.(3619-3621)cGc>cAc	p.R1207H	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1166H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1166H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1166H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1201H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1201H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1201					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTCAGGAACGCATCTTTCTC	0.602000													18	12					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110866345	110866345	+	Silent	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr13:110866345C>A	ENST00000375820.4	-	3	283	c.162G>T	c.(160-162)ccG>ccT	p.P54P	COL4A1_ENST00000543140.1_Silent_p.P54P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	54					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTGTAACCCCGGGAGGCCTC	0.532000													18	82					8.10497e-08	9.2272e-08	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125557567	125557567	+	Missense_Mutation	SNP	G	G	A	rs146633990	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:125557567G>A	ENST00000241305.3	-	6	968	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	272	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGTTTATGCGGATGTAGCGG	0.517000													10	66					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089960	31089960	+	Silent	SNP	A	A	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:31089960A>C	ENST00000359202.3	-	1	210	c.111T>G	c.(109-111)tcT>tcG	p.S37S		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	37	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						AGAAGGCCATAGACAGGTACA	0.592000													35	111					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247740	35247740	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:35247740A>T	ENST00000381318.3	+	34	4544	c.4256A>T	c.(4255-4257)cAg>cTg	p.Q1419L	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1414L|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1419L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1419	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCTGTTCCCAGGTGAACGAA	0.577000													45	77					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776410	38776410	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:38776410G>T	ENST00000308973.4	-	4	1407	c.802C>A	c.(802-804)Cat>Aat	p.H268N	TLR10_ENST00000506111.1_Missense_Mutation_p.H268N|TLR10_ENST00000361424.2_Missense_Mutation_p.H268N|TLR10_ENST00000508334.1_Missense_Mutation_p.H268N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	268					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACTGATGTATGCCAAACAAAT	0.353000													49	65					1.17673e-23	1.56427e-23	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67281117	67281117	+	Missense_Mutation	SNP	A	A	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:67281117A>C	ENST00000258201.4	-	1	444	c.197T>G	c.(196-198)cTc>cGc	p.L66R	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	66	GBD/FH3.				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)		CCTCACCTTGAGCGGCGCTCC	0.711000													2	5					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54567807	54567807	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:54567807G>A	ENST00000336470.4	+	5	430	c.291G>A	c.(289-291)gaG>gaA	p.E97E	GNL3L_ENST00000360845.2_Silent_p.E97E|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	97					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GACGCCAGGAGGAGTTTGAGC	0.507000													21	48					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83704553	83704553	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:83704553C>T	ENST00000566620.1	+	9	1550	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	CDH13_ENST00000428848.3_Silent_p.N381N|CDH13_ENST00000268613.10_Silent_p.N467N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	420	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTCAAACCAACGAAGGGATGC	0.527000													37	183					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614949	7614949	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:7614949G>A	ENST00000221249.6	+	17	2079	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	PNPLA6_ENST00000600737.1_Missense_Mutation_p.A589T|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A524T|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A550T|PNPLA6_ENST00000414982.3_Missense_Mutation_p.A598T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	589					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACACTGCGAGCCCAACGCGA	0.627000													27	113					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975440	32975440	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:32975440A>T	ENST00000340811.4	-	8	1908	c.1800T>A	c.(1798-1800)agT>agA	p.S600R	PKP2_ENST00000070846.6_Missense_Mutation_p.S644R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	644					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)					AACATCCAATACTTTTGTTGT	0.403000													11	96					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346661	92346661	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr8:92346661G>T	ENST00000276609.3	+	6	1020	c.781G>T	c.(781-783)Gta>Tta	p.V261L	SLC26A7_ENST00000309536.2_Missense_Mutation_p.V261L|SLC26A7_ENST00000523719.1_Missense_Mutation_p.V261L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	261						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGTTCTTCCTGTAGATTTAGT	0.358000													18	20					2.4624e-09	2.86205e-09	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717092	142717092	+	Silent	SNP	A	A	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:142717092A>C	ENST00000381779.4	-	2	2058	c.1833T>G	c.(1831-1833)ccT>ccG	p.P611P	SLITRK4_ENST00000356928.1_Silent_p.P611P|SLITRK4_ENST00000338017.4_Silent_p.P611P	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	611						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCCCACCAGGAGGACTTC	0.448000													48	104					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717812	101717812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr13:101717812G>T	ENST00000251127.6	-	40	4629	c.4548C>A	c.(4546-4548)tgC>tgA	p.C1516*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1516						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)					CCATTTCGTAGCACATGTGCT	0.587000													20	78					2.89027e-11	3.41298e-11	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327835	57327835	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:57327835C>T	ENST00000326441.9	-	10	2338	c.1975G>A	c.(1975-1977)Ggt>Agt	p.G659S	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G659S|PEG3_ENST00000593695.1_Missense_Mutation_p.G533S|PEG3_ENST00000598410.1_Missense_Mutation_p.G535S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	659					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)		CACACTTTACCCTTGTTTTCA	0.428000													23	114					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197069578	197069578	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:197069578T>C	ENST00000367409.4	-	18	9059	c.8803A>G	c.(8803-8805)Agc>Ggc	p.S2935G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2935	IQ 33.|IQ 34.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTATGGTGCTATTTTTAATT	0.269000													8	24					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91246099	91246099	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:91246099C>A	ENST00000369329.3	-	13	1474	c.1313G>T	c.(1312-1314)aGa>aTa	p.R438I	MAP3K7_ENST00000369332.3_Missense_Mutation_p.R411I|MAP3K7_ENST00000369320.1_Missense_Mutation_p.R92I|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R411I|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R438I	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	438					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)		TTGGATGGATCTACGTCTTGG	0.353000													20	34					1.68575e-08	1.94915e-08	1	1	0
SIK1	150094	broad.mit.edu	37	21	44838388	44838388	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:44838388G>A	ENST00000270162.6	-	12	1628	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	499					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TCCCTCTGCAGGACTTGCCGT	0.647000													6	50					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212923	60212923	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:60212923G>T	ENST00000267484.5	-	2	853	c.518C>A	c.(517-519)gCa>gAa	p.A173E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	173					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTGGACTCTGCAGGAGTCAT	0.507000													9	52					6.40141e-05	6.79958e-05	1	1	0
PARP4	143	broad.mit.edu	37	13	25049728	25049728	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr13:25049728T>C	ENST00000381989.3	-	15	1901	c.1796A>G	c.(1795-1797)cAg>cGg	p.Q599R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	599					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATCTGGTAACTGGTAATCTAA	0.428000													18	73					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175631	57175631	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:57175631G>T	ENST00000537055.2	-	2	1167	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G334fs*26(1)		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						TGAAGAGCGCGCCGCAGTCCT	0.711000													3	6					0.004672	0.00477965	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29598234	29598234	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:29598234C>A	ENST00000318184.5	-	23	2857	c.2858G>T	c.(2857-2859)aGc>aTc	p.S953I	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	953	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GACAATATAGCTTATACCAAA	0.363000													12	97					4.36969e-10	5.13265e-10	1	1	0
MYH9	4627	broad.mit.edu	37	22	36700084	36700084	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:36700084T>C	ENST00000216181.5	-	19	2577	c.2347A>G	c.(2347-2349)Atc>Gtc	p.I783V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	783	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AACCCTATGATGACGTCGGTG	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				16	47					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909474	182909474	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:182909474C>T	ENST00000367547.3	-	3	996	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E135K	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	326										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CTGACAACTTCCAAGGCCAAA	0.353000													22	163					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686691	108686691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:108686691C>A	ENST00000397688.2	-	3	412	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	CMKLR1_ENST00000552995.1_Nonsense_Mutation_p.E15*|CMKLR1_ENST00000550402.1_Nonsense_Mutation_p.E17*|CMKLR1_ENST00000412676.1_Nonsense_Mutation_p.E17*|CMKLR1_ENST00000312143.7_Nonsense_Mutation_p.E17*	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	17					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCAGGGTATTCATCACCGTAA	0.468000													3	70					1	1	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150906969	150906969	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:150906969C>A	ENST00000329903.4	+	1	47	c.14C>A	c.(13-15)aCc>aAc	p.T5N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	5					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGAAAAAACCAATGGTGTG	0.522000													77	197					4.869e-31	6.67234e-31	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73735773	73735773	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:73735773G>A	ENST00000200181.3	+	19	2428	c.2241G>A	c.(2239-2241)ccG>ccA	p.P747P	ITGB4_ENST00000449880.2_Silent_p.P747P|ITGB4_ENST00000339591.3_Silent_p.P747P|ITGB4_ENST00000579662.1_Silent_p.P747P|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.P747P	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	747					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.P747P(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTTCTCCCGTGCTGCAACC	0.652000													13	84					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35453994	35453994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:35453994C>T	ENST00000378880.2	-	11	2518	c.2073G>A	c.(2071-2073)tgG>tgA	p.W691*	PAMR1_ENST00000278360.3_Nonsense_Mutation_p.W708*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.W651*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.W580*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	691	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TATCATAGCTCCAGCTGACCA	0.522000													22	81					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26664533	26664533	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:26664533G>A	ENST00000527815.1	-	7	904	c.855C>T	c.(853-855)tgC>tgT	p.C285C	AIM1L_ENST00000308182.5_Silent_p.C114C|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	114	Beta/gamma crystallin 'Greek key' 6.						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)		CCACACTTGGGCAGCCCTGCA	0.582000													3	8					0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169923221	169923221	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:169923221C>A	ENST00000504480.1	-	4	700	c.536G>T	c.(535-537)gGt>gTt	p.G179V	CBR4_ENST00000306193.3_Splice_Site|CBR4_ENST00000509108.1_Splice_Site			Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	179					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TTTTCACTAACCTGGTGCAAC	0.338000													10	35					1.33987e-11	1.59065e-11	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52406055	52406055	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:52406055G>A	ENST00000420323.2	+	42	6880	c.6619G>A	c.(6619-6621)Gtg>Atg	p.V2207M		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2207	AAA 3 (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)		CATGGACACCGTGCAGATGTC	0.567000													27	115					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	312437	312437	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:312437G>A	ENST00000399932.3	+	8	1307	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	ITFG3_ENST00000600536.1_Missense_Mutation_p.G286S|ITFG3_ENST00000301678.3_Missense_Mutation_p.G286S|ITFG3_ENST00000450082.2_Missense_Mutation_p.G286S|ITFG3_ENST00000301679.2_Missense_Mutation_p.G286S|ITFG3_ENST00000442458.2_Missense_Mutation_p.G286S			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	286						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTCCCTCTGCGGCTGCTCTGT	0.637000													12	53					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264946	46264946	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr20:46264946G>T	ENST00000372004.3	+	12	2032	c.1816G>T	c.(1816-1818)Gca>Tca	p.A606S	NCOA3_ENST00000371997.3_Missense_Mutation_p.A616S|NCOA3_ENST00000341724.6_Missense_Mutation_p.A616S|NCOA3_ENST00000371998.3_Missense_Mutation_p.A606S	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	606	Ser-rich.				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						TGTTGAGGGGGCAGAGAATCA	0.438000													19	35					1.28384e-07	1.44676e-07	1	1	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	49					0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646151	228646151	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:228646151G>T	ENST00000369160.2	+	1	344	c.321G>T	c.(319-321)ctG>ctT	p.L107L		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	107					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				CCGGCGAGCTGGCCAAGCACG	0.647000													13	80					0.00400662	0.00413707	1	1	0
MMADHC	27249	broad.mit.edu	37	2	150427649	150427649	+	Nonsense_Mutation	SNP	G	G	A	rs141093638	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:150427649G>A	ENST00000428879.1	-	6	1150	c.646C>T	c.(646-648)Cga>Tga	p.R216*	MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R216*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R250*			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	216			Missing (in MMADHC; cblD original).			mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CCCTCAGCTCGAAGAGCATAG	0.333000													35	164					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328085	126328085	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:126328085T>C	ENST00000394329.3	+	3	5371	c.5358T>C	c.(5356-5358)agT>agC	p.S1786S	FAT4_ENST00000335110.5_Silent_p.S84S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1786	Cadherin 17.				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						CTGATGATAGTTTTCGCATCG	0.468000													17	110					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45878049	45878049	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:45878049C>T	ENST00000374391.2	+	2	322	c.269C>T	c.(268-270)aCg>aTg	p.T90M	ALOX5_ENST00000542434.1_Missense_Mutation_p.T90M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	90	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACGCTGAAGACGCCCCACGGG	0.592000													20	48					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10107495	10107495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:10107495G>T	ENST00000380861.4	+	22	3518	c.3127G>T	c.(3127-3129)Gag>Tag	p.E1043*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.E1043*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1043										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCAGGCGGCTGAGAAGATGCT	0.478000													31	97					9.8876e-21	1.2912e-20	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171264279	171264279	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:171264279G>T	ENST00000334231.6	+	22	2602	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y	MYO3B_ENST00000408978.4_Missense_Mutation_p.D859Y|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.D859Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	859	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						TCTCCCTGCCGATGTGGTTGT	0.463000													69	131					7.97268e-31	1.08585e-30	1	1	0
GSPT1	2935	broad.mit.edu	37	16	11980744	11980744	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:11980744T>C	ENST00000434724.2	-	8	1201	c.1002A>G	c.(1000-1002)aaA>aaG	p.K334K	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Silent_p.K196K|GSPT1_ENST00000564790.1_5'UTR|GSPT1_ENST00000563468.1_Silent_p.K196K|GSPT1_ENST00000439887.2_Silent_p.K333K	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	196					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	p.K334K(1)|p.K196K(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCTGTCCTCCTTTTTCAAATC	0.403000													3	153					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428683	3428683	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:3428683T>A	ENST00000356575.4	-	8	1089	c.863A>T	c.(862-864)gAa>gTa	p.E288V	MEGF6_ENST00000294599.4_Missense_Mutation_p.E183V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	288	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCGGCACATTCGTCCACATC	0.647000													21	97					0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28310311	28310311	+	Silent	SNP	A	A	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:28310311A>G	ENST00000335272.5	-	2	121	c.45T>C	c.(43-45)gtT>gtC	p.V15V	PITPNB_ENST00000320996.10_Silent_p.V15V|PITPNB_ENST00000455418.3_Silent_p.V17V	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	15					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCACCTCCTGAACAGAACATG	0.318000													3	24					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488338	103488338	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:103488338C>A	ENST00000358392.2	-	8	1558	c.1241G>T	c.(1240-1242)gGt>gTt	p.G414V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G363V|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.G402V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	402	Nonhelical 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)		TACACCTGGACCAAATTCTTC	0.348000													14	96					1.49906e-05	1.61549e-05	1	1	0
DRP2	1821	broad.mit.edu	37	X	100509551	100509551	+	Splice_Site	SNP	G	G	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:100509551G>C	ENST00000395209.3	+	18	2641		c.e18+1		DRP2_ENST00000541709.1_Splice_Site|DRP2_ENST00000402866.1_Splice_Site|DRP2_ENST00000538510.1_Splice_Site	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2						central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACAGTGAGACGTGAGTACTGG	0.542000													13	80					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125621313	125621313	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:125621313T>A	ENST00000373670.1	-	11	2518	c.1918A>T	c.(1918-1920)Aat>Tat	p.N640Y	RC3H2_ENST00000357244.2_Missense_Mutation_p.N640Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.N640Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	640	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGAACGTTATTGGACCTCACA	0.468000													7	56					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17531361	17531361	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:17531361G>T	ENST00000005226.7	-	18	1554	c.1555C>A	c.(1555-1557)Ccg>Acg	p.P519T	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.		E -> D (in dbSNP:rs1064074).		equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACAGAAGGCGGGGGAGGCGGG	0.582000													19	83					7.88262e-20	1.02336e-19	1	1	0
GLI3	2737	broad.mit.edu	37	7	42088289	42088289	+	Silent	SNP	G	G	A	rs148660482		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:42088289G>A	ENST00000395925.3	-	5	564	c.480C>T	c.(478-480)tcC>tcT	p.S160S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	160					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGATAAGGCGGAAGTCCTGG	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				6	28					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45736321	45736321	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:45736321G>T	ENST00000403390.1	+	10	991	c.991G>T	c.(991-993)Gtt>Ttt	p.V331F	PFKL_ENST00000349048.4_Missense_Mutation_p.V284F			P17858	K6PL_HUMAN	phosphofructokinase, liver	284					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCAGCTGGTGGTTCAGAGGCT	0.672000													11	60					5.50884e-06	6.02444e-06	1	1	0
ZP4	57829	broad.mit.edu	37	1	238051702	238051702	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:238051702C>T	ENST00000366570.4	-	4	667	c.509G>A	c.(508-510)tGt>tAt	p.C170Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	170	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGCTATAACAACAGCCTAG	0.507000													56	125					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108489815	108489815	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:108489815C>T	ENST00000263054.6	-	6	1024	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SORCS1_ENST00000344440.6_Silent_p.V339V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	339						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACGACCATCCACAGTTCTGG	0.373000													13	86					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581153	178581153	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:178581153C>T	ENST00000251582.7	-	8	1380	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D427N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	427	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCACCTCGTCGCCACAGCGG	0.706000													4	7					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31210499	31210499	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:31210499C>G	ENST00000294507.3	-	6	632	c.558G>C	c.(556-558)aaG>aaC	p.K186N		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	186					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCATCATCTTGATGAACT	0.512000													39	58					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430423	36430423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:36430423C>A	ENST00000588831.1	+	3	1150	c.96C>A	c.(94-96)tgC>tgA	p.C32*	LRFN3_ENST00000246529.3_Nonsense_Mutation_p.C32*			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	32	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCGCCGCTGCCGCTGCCAGA	0.726000													13	36					6.94344e-10	8.11287e-10	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228432121	228432121	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:228432121T>C	ENST00000570156.2	+	12	3680	c.3606T>C	c.(3604-3606)gaT>gaC	p.D1202D	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.D1110D|OBSCN_ENST00000284548.11_Silent_p.D1110D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	146	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTACAAGGATGGGAAGAAGC	0.617000													18	118					0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55669071	55669071	+	Silent	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:55669071C>A	ENST00000587871.1	-	5	506	c.507G>T	c.(505-507)cgG>cgT	p.R169R	TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000344887.5_5'UTR																							TCAGTCTCCTCCGGGCTGCTT	0.627000													11	14					1.58986e-06	1.77362e-06	1	1	0
MEFV	4210	broad.mit.edu	37	16	3304752	3304752	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:3304752C>T	ENST00000219596.1	-	2	355	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	106					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)	GAGCTGGACGCTGCGGAATCA	0.592000													8	81					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63569931	63569931	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:63569931G>T	ENST00000374852.3	-	5	555	c.488C>A	c.(487-489)cCt>cAt	p.P163H	MTMR8_ENST00000453546.1_Missense_Mutation_p.P163H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	163	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACTATTTCAGGAGGGTAGGT	0.343000													44	97					8.44121e-28	1.13573e-27	1	1	0
C11orf82	220042	broad.mit.edu	37	11	82643558	82643558	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:82643558C>G	ENST00000533655.1	+	6	1390	c.1178C>G	c.(1177-1179)cCt>cGt	p.P393R	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P393R|C11orf82_ENST00000329143.3_Missense_Mutation_p.P92R	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	393					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						TGTTGTCCACCTTCGTTACTC	0.453000													110	198					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106201566	106201566	+	Splice_Site	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:106201566C>T	ENST00000355610.4	-	11	1659	c.1385_splice	c.e11+1	p.R462_splice	MORC4_ENST00000535534.1_Splice_Site_p.R210_splice|MORC4_ENST00000255495.7_Splice_Site_p.R462_splice	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	462							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGAACCTTACCTGTACTTTGG	0.398000													31	67					0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234959503	234959503	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:234959503T>A	ENST00000168148.3	+	1	161	c.73T>A	c.(73-75)Tgg>Agg	p.W25R	SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Missense_Mutation_p.W25R	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	25					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATGAACTACTGGTCTTGCTC	0.468000													67	161					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541814	70541814	+	Silent	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:70541814C>A	ENST00000310961.5	+	24	4463	c.4045C>A	c.(4045-4047)Cgg>Agg	p.R1349R	LRRC7_ENST00000035383.5_Silent_p.R1391R|LRRC7_ENST00000415775.2_Silent_p.R675R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1391						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCATCGCAGCCGGGAGCAGCA	0.522000													30	45					8.16721e-17	1.01861e-16	1	1	0
FTHL17	53940	broad.mit.edu	37	X	31089959	31089959	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:31089959T>A	ENST00000359202.3	-	1	211	c.112A>T	c.(112-114)Atg>Ttg	p.M38L		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	38	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						TAGAAGGCCATAGACAGGTAC	0.587000													35	110					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007327	6007327	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:6007327G>A	ENST00000332249.4	-	1	888	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	278					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)		AGCGGTGAGTGAGGAAGGAGA	0.502000													9	33					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									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)		TACATCTTTCAGGAGCTTGGT	0.388000													4	97					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53184100	53184100	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:53184100T>C	ENST00000417996.2	-	9	1687	c.1613A>G	c.(1612-1614)tAt>tGt	p.Y538C	KRT3_ENST00000309505.3_Missense_Mutation_p.Y539C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	538	Gly-rich.|Tail.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						acctcctccatagccaccTGC	0.682000													3	11					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102134086	102134086	+	Missense_Mutation	SNP	G	G	A	rs148565717		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:102134086G>A	ENST00000369138.1	+	6	1299	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	GRIK2_ENST00000369137.3_Missense_Mutation_p.R270Q|GRIK2_ENST00000369134.4_Missense_Mutation_p.R221Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.R270Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.R270Q|GRIK2_ENST00000358361.3_Missense_Mutation_p.R270Q|GRIK2_ENST00000421544.1_Missense_Mutation_p.R270Q	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	270					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAGCCCTACCGATACAGTGGT	0.393000													18	41					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31489410	31489410	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:31489410A>T	ENST00000322054.5	+	6	1733	c.1448A>T	c.(1447-1449)aAg>aTg	p.K483M	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	483	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GTGCTGGGCAAGATCTGGAAG	0.567000													37	73					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149452885	149452885	+	Missense_Mutation	SNP	G	G	T	rs17854479		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:149452885G>T	ENST00000286301.3	-	7	1352	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	354	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTTGGTGGTAGCATTAGCAAG	0.547000													75	154					2.61895e-37	3.67979e-37	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	116887387	116887387	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:116887387T>A	ENST00000355044.3	+	4	648	c.522T>A	c.(520-522)aaT>aaA	p.N174K	ATRNL1_ENST00000527407.1_Missense_Mutation_p.N174K|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	174	CUB.					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)		TAAGGGGCAATGAAACTGTGC	0.328000													11	42					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681231	44681231	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:44681231T>C	ENST00000590089.1	+	7	2183	c.1816T>C	c.(1816-1818)Tgt>Cgt	p.C606R	ZNF226_ENST00000337433.5_Missense_Mutation_p.C606R|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.C606R			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TAAAATTCACTGTAGGATCCA	0.463000													23	64					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487664	108487664	+	Silent	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:108487664T>C	ENST00000408999.3	+	20	3281	c.3204T>C	c.(3202-3204)ttT>ttC	p.F1068F	RGPD4_ENST00000354986.4_Silent_p.F1068F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1068	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAAACTATTTAGATTTGATG	0.388000													10	640					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581345	234581345	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:234581345G>A	ENST00000354728.4	+	1	847	c.765G>A	c.(763-765)acG>acA	p.T255T	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1												p.T255T(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGTTGCGAACGGACTTTGTTT	0.433000													172	415					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863081	23863081	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:23863081C>G	ENST00000405093.3	-	22	2792	c.2722G>C	c.(2722-2724)Gac>Cac	p.D908H	MYH6_ENST00000356287.3_Missense_Mutation_p.D908H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	908					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)		ATCAGCTGGTCGCAGCGCTCC	0.498000													3	75					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859832	6859832	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr18:6859832C>G	ENST00000419673.2	+	4	402	c.185C>G	c.(184-186)aCt>aGt	p.T62S	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T57S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T169S|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.T221S|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T62S|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T62S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T44S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T221S	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	44					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)				CTCAACAGTACTACCCTGTCT	0.428000													38	148					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715775	68715775	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr5:68715775C>T	ENST00000325631.5	+	2	637	c.563C>T	c.(562-564)tCg>tTg	p.S188L	MARVELD2_ENST00000413223.2_Missense_Mutation_p.S188L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	188	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TACATGAAGTCGTGGGCAGGC	0.522000													22	85					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37758546	37758546	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr21:37758546G>A	ENST00000314103.4	+	2	263	c.112G>A	c.(112-114)Gac>Aac	p.D38N	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	38					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	p.D38Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGCCGGCGTGGACACCAATGT	0.537000													21	84					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48622350	48622350	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:48622350C>T	ENST00000328333.8	-	33	4111	c.4004G>A	c.(4003-4005)gGg>gAg	p.G1335E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1335E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1335	Interrupted collagenous region.|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)		TACCGGGTCCCCACGAGGGCC	0.642000													16	25					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671282	45671282	+	Missense_Mutation	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr11:45671282A>T	ENST00000308064.2	-	4	1862	c.1192T>A	c.(1192-1194)Tcg>Acg	p.S398T		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	398					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)		AGGCTGACCGAGGGGTTCTTC	0.657000													21	51					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	532539	532539	+	Silent	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:532539G>T	ENST00000230449.4	-	23	2445	c.2310C>A	c.(2308-2310)ccC>ccA	p.P770P	EXOC2_ENST00000448181.3_Silent_p.P365P	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	770					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGCCAACGATGGGATCTGCTT	0.373000													3	91					1	1	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576937	158576937	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:158576937G>A	ENST00000361284.1	+	1	709	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCAGAAGAAGGCCTTCTCCAC	0.512000													5	206					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031233	58031233	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr16:58031233G>A	ENST00000299237.2	-	2	1559	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGAAGGGCCGCTCCCCACTT	0.672000													3	29					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180337699	180337699	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:180337699G>T	ENST00000442201.2	-	15	2177	c.2058C>A	c.(2056-2058)aaC>aaA	p.N686K	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	686					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCAGCTTTGTTGATCTTGG	0.353000													6	16					2.0095e-06	2.21945e-06	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42237013	42237013	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:42237013T>C	ENST00000541110.1	-	5	884	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	TRERF1_ENST00000354325.2_Missense_Mutation_p.M106V|TRERF1_ENST00000372922.4_Missense_Mutation_p.M106V|TRERF1_ENST00000340840.2_Missense_Mutation_p.M106V|TRERF1_ENST00000372917.4_Missense_Mutation_p.M106V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	106					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCACATCATGTTTGAGTTG	0.587000													54	405					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558067	41558067	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:41558067C>T	ENST00000373060.1	+	12	1874	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	FOXP4_ENST00000307972.4_Silent_p.Y472Y|FOXP4_ENST00000409208.1_Silent_p.Y460Y|FOXP4_ENST00000373063.3_Silent_p.Y459Y|FOXP4_ENST00000373057.3_Silent_p.Y470Y	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	472					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTTCACCTACGCCTCCCTCA	0.647000													23	236					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37253031	37253031	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:37253031T>C	ENST00000310758.4	-	12	1510	c.863A>G	c.(862-864)aAt>aGt	p.N288S	ELMO1_ENST00000442504.1_Missense_Mutation_p.N288S|ELMO1_ENST00000448602.1_Missense_Mutation_p.N288S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	288					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGCCATCTCATTGTTGATGGC	0.453000													12	30					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480153	120480153	+	Missense_Mutation	SNP	A	A	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:120480153A>C	ENST00000222747.3	-	3	684	c.77T>G	c.(76-78)aTc>aGc	p.I26S	TSPAN12_ENST00000415871.1_Missense_Mutation_p.I26S	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	26					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CAACACACTGATGGACATTAA	0.343000													22	77					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662703	99662703	+	Missense_Mutation	SNP	A	A	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:99662703A>C	ENST00000373034.4	-	1	2568	c.893T>G	c.(892-894)gTc>gGc	p.V298G	PCDH19_ENST00000255531.7_Missense_Mutation_p.V298G|PCDH19_ENST00000420881.2_Missense_Mutation_p.V298G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	298	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGTGACAGTGACCAGGCCACT	0.602000													8	93					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86920985	86920985	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:86920985G>T	ENST00000370565.4	+	14	2769	c.2607G>T	c.(2605-2607)atG>atT	p.M869I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	869					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TACGAGCAATGGATAGGAACT	0.428000													73	112					1.93348e-29	2.61727e-29	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184706191	184706191	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:184706191G>A	ENST00000318130.8	-	4	579	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	EDEM3_ENST00000367512.3_Silent_p.L62L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	105					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCAGTGTCAGAGAAAATCTA	0.299000													5	76					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228470	3228470	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:3228470G>A	ENST00000217939.6	-	7	7928	c.7774C>T	c.(7774-7776)Cgc>Tgc	p.R2592C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2592	Ig-like C2-type 10.					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)				TGGTAGAAGCGCTGCAGCTGC	0.657000													4	7					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54339866	54339866	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr18:54339866C>T	ENST00000254442.3	+	2	331	c.120C>T	c.(118-120)gaC>gaT	p.D40D	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.D40D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	40								p.D40D(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGTCACGACGGACAAATAT	0.398000													4	52					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284821	223284821	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:223284821G>A	ENST00000540964.1	-	4	2014	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L	TLR5_ENST00000342210.6_Missense_Mutation_p.P518L			O60602	TLR5_HUMAN	toll-like receptor 5	518			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TACTCCTGGTGGAAGGGAATT	0.413000													19	170					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390363	107390363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:107390363C>A	ENST00000429433.2	-	5	2681	c.2032G>T	c.(2032-2034)Gag>Tag	p.E678*	BEND3_ENST00000369042.1_Nonsense_Mutation_p.E678*	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	678										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGAACCTCTCGGGGTTGATT	0.652000													28	27					4.74835e-14	5.66739e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152285936	152285936	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr1:152285936C>T	ENST00000368799.1	-	3	1461	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	476	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)			TCAGGCTGTTCATGAGTGCTC	0.622000									Ichthyosis				11	359					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1792036	1792036	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:1792036G>T	ENST00000254719.5	+	14	1552	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TACCAAGCCTGCCCGACTCAG	0.488000								Nucleotide excision repair (NER)					34	79					2.40579e-17	3.01743e-17	1	1	0
CPEB3	22849	broad.mit.edu	37	10	93904753	93904753	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:93904753G>T	ENST00000412050.4	-	5	1358	c.1270C>A	c.(1270-1272)Cgc>Agc	p.R424S	CPEB3_ENST00000265997.4_Missense_Mutation_p.R438S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	438							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CTAGAGTAGCGTTCTACTCGT	0.428000													31	59					1.90571e-15	2.32455e-15	1	1	0
STRN4	29888	broad.mit.edu	37	19	47228789	47228789	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:47228789G>A	ENST00000391910.3	-	10	1836	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	STRN4_ENST00000539396.1_Silent_p.T336T|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.T455T			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	455						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGGAGGCGGTGAGCAGAG	0.627000													5	29					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97251210	97251210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:97251210G>T	ENST00000389672.5	+	11	2247	c.2209G>T	c.(2209-2211)Gga>Tga	p.G737*	EPHA6_ENST00000442602.2_Nonsense_Mutation_p.G103*|EPHA6_ENST00000514100.1_Nonsense_Mutation_p.G129*|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.G129*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	642	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						AGGTGAATTTGGAGAAGTCTG	0.388000													9	53					0.105934	0.106897	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102572513	102572513	+	Silent	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:102572513C>T	ENST00000327680.2	+	9	1369	c.906C>T	c.(904-906)atC>atT	p.I302I	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000358383.5_Silent_p.I383I|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Silent_p.I460I|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.I302I	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	383					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.I302M(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						AAAACACAATCCATCATCATG	0.323000													11	29					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956660	54956660	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:54956660G>A	ENST00000173898.7	+	12	3615	c.3503G>A	c.(3502-3504)tGc>tAc	p.C1168Y	TRO_ENST00000420798.2_Missense_Mutation_p.C699Y|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.C771Y|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1168	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACTAACCTATGCTTTGGTGGC	0.537000													37	81					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026856	65026856	+	Silent	SNP	A	A	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr17:65026856A>T	ENST00000262138.3	+	4	722	c.720A>T	c.(718-720)cgA>cgT	p.R240R		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	240					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGTACCGGCGACGGCGCTCGA	0.582000													13	69					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307251	89307251	+	Missense_Mutation	SNP	G	G	T	rs140710339	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr14:89307251G>T	ENST00000338104.6	+	3	330	c.278G>T	c.(277-279)gGa>gTa	p.G93V	TTC8_ENST00000346301.4_Missense_Mutation_p.G93V|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000345383.5_Missense_Mutation_p.G93V|TTC8_ENST00000380656.2_Missense_Mutation_p.G103V|TTC8_ENST00000536576.1_5'UTR			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	103					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AATCAGACAGGAGGGCCTAGC	0.398000													9	59					0.00829132	0.00844345	1	1	0
XRCC1	7515	broad.mit.edu	37	19	44056275	44056275	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:44056275C>A	ENST00000262887.5	-	9	1523	c.976G>T	c.(976-978)Gtg>Ttg	p.V326L	XRCC1_ENST00000543982.1_Missense_Mutation_p.V295L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	326	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CCACTCAGCACCACTACCACA	0.647000								Other BER factors					23	66					1.74197e-06	1.93359e-06	1	1	0
KLHL18	23276	broad.mit.edu	37	3	47378117	47378117	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:47378117G>A	ENST00000232766.5	+	7	1011	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	KLHL18_ENST00000455924.2_Missense_Mutation_p.V219M	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	331										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCGCGTTGGCGTGGCTGTGGT	0.582000													12	54					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196348	42196348	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr6:42196348T>A	ENST00000541110.1	-	18	3966	c.3398A>T	c.(3397-3399)gAa>gTa	p.E1133V	TRERF1_ENST00000354325.2_Missense_Mutation_p.E1030V|TRERF1_ENST00000372922.4_Missense_Mutation_p.E1113V|TRERF1_ENST00000340840.2_Missense_Mutation_p.E1042V|TRERF1_ENST00000372917.4_Missense_Mutation_p.E1042V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1113	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCTGTTGTTCCTCCTGCTG	0.522000													346	410					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178663	65178663	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr18:65178663C>G	ENST00000310045.7	-	2	4686	c.3213G>C	c.(3211-3213)ttG>ttC	p.L1071F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1061						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTATTTTAAACAATTTTGCTA	0.333000													10	41					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116830964	116830964	+	Missense_Mutation	SNP	G	G	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:116830964G>T	ENST00000265437.5	+	12	1442	c.1228G>T	c.(1228-1230)Gtg>Ttg	p.V410L	ST7_ENST00000393447.4_Missense_Mutation_p.V367L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393446.2_Missense_Mutation_p.V387L|ST7_ENST00000323984.3_Missense_Mutation_p.V410L|ST7_ENST00000393444.3_Missense_Mutation_p.V344L|ST7_ENST00000432298.1_Missense_Mutation_p.V364L|ST7_ENST00000422922.1_Missense_Mutation_p.V341L|ST7_ENST00000393443.1_Missense_Mutation_p.V337L|ST7_ENST00000393451.3_Missense_Mutation_p.V387L|ST7_ENST00000393449.1_Missense_Mutation_p.V410L	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	410						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)		TCATAGAGCTGTGGAATTCAA	0.473000													18	51					7.21436e-19	9.25774e-19	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102157401	102157401	+	Missense_Mutation	SNP	T	T	C			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr3:102157401T>C	ENST00000306176.1	+	2	218	c.118T>C	c.(118-120)Tac>Cac	p.Y40H	ZPLD1_ENST00000491959.1_Missense_Mutation_p.Y24H|ZPLD1_ENST00000466937.1_Missense_Mutation_p.Y24H	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	24						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTCAACGGCTACAACTGTGA	0.413000													6	49					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950746	235950746	+	Missense_Mutation	SNP	C	C	G			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr2:235950746C>G	ENST00000409212.1	+	4	1840	c.1333C>G	c.(1333-1335)Ctg>Gtg	p.L445V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.L445V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.L445V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	445					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTGCACAACCTGGAGCCCTG	0.592000													7	38					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19854298	19854298	+	Missense_Mutation	SNP	C	C	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:19854298C>A	ENST00000397821.3	-	2	397	c.107G>T	c.(106-108)tGg>tTg	p.W36L	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.W36L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	36	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCTCCCACCAGCCTCCATC	0.522000													75	244					1.14904e-54	1.64571e-54	1	1	0
RPS6	6194	broad.mit.edu	37	9	19378872	19378872	+	Silent	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:19378872G>A	ENST00000380394.4	-	3	241	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RPS6_ENST00000315377.4_Silent_p.F30F|RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000380384.1_Silent_p.F30F	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	61					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCTTCATGGGGAAACCTTGTT	0.458000													3	52					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153055714	153055714	+	Missense_Mutation	SNP	C	C	T			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:153055714C>T	ENST00000370092.3	-	4	354	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_De_novo_Start_InFrame|IDH3G_ENST00000370093.1_Missense_Mutation_p.V57M|IDH3G_ENST00000217901.5_Missense_Mutation_p.V57M	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	57					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ATCATGGTCACCGTGTGCCGC	0.657000													9	95					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077931	34077931	+	Missense_Mutation	SNP	G	G	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr15:34077931G>A	ENST00000389232.4	+	66	9407	c.9337G>A	c.(9337-9339)Gaa>Aaa	p.E3113K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3113K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3113					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGATGAAGGAAATCAACGA	0.527000													11	60					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947149	101947149	+	Missense_Mutation	SNP	T	T	A			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:101947149T>A	ENST00000394854.3	-	14	2122	c.1439A>T	c.(1438-1440)aAt>aTt	p.N480I	PPP3CA_ENST00000523694.2_Missense_Mutation_p.N413I|PPP3CA_ENST00000394853.4_Missense_Mutation_p.N470I|PPP3CA_ENST00000512215.1_Missense_Mutation_p.N248I|PPP3CA_ENST00000507176.1_Missense_Mutation_p.N382I|PPP3CA_ENST00000323055.6_Missense_Mutation_p.N428I	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	480	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CATCCTCTCATTAATTCGGTC	0.458000													21	96					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		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)		TGCTCAGGTCAAAAAAAATTG	0.294													7	213	---	---	---	---					
CYP2W1	54905	broad.mit.edu	37	7	1027165	1027165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:1027165delA	ENST00000340150.6	+	7	995	c.973delA	c.(973-975)agfs	p.K325fs	CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.K381fs			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	381					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)		CCTGCTCCCCAAGGTGGGGCT	0.716													2	4	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)acfs	p.N204fs	ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.N204fs*5(3)		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)		TTTGTCAAAGTTTTTTTTTGC	0.378													10	92	---	---	---	---					
OR2A1	346528	broad.mit.edu	37	7	144015520	144015521	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr7:144015520_144015521delTC	ENST00000408951.1	+	1	303_304	c.303_304delTC	c.(301-306)tttcfs	p.FL101fs	RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					CGCAGACCTTTCTCTGTTTGAG	0.564													25	631	---	---	---	---					
ADAMTS13	11093	broad.mit.edu	37	9	136321324	136321324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr9:136321324delC	ENST00000371929.3	+	26	4146	c.3702delC	c.(3700-3702)ctfs	p.L1234fs	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Frame_Shift_Del_p.L30fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.L1147fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.L1178fs|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1234	CUB 1.				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)		AGAGTTCTCTCAACTGCAGTG	0.637													27	61	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													2	4	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccfs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					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	p.M1192fs*1(2)		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						ATCAGACTCCAAAAAAAATGA	0.403													7	86	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120576207	120576209	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr12:120576207_120576209delCCT	ENST00000300648.6	-	47	6179_6181	c.6167_6169delAGG	c.(6166-6171)gtg>g	p.EV2056del		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2056					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)					AACTCTGACACCTCCTCGTCATC	0.532													17	109	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10599954	10599958	+	Frame_Shift_Del	DEL	GTTTC	GTTTC	-			TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:10599954_10599958delGTTTC	ENST00000171111.5	-	5	2165_2169	c.1618_1622delGAAAC	c.(1618-1623)afs	p.ET542fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.ET542fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACGTCTCTGTTTCCACATCGTAG	0.590													14	32	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs72310923		TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr19:43440068_43440069delAC	ENST00000406070.2	-	0	161				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													2	4	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													9	164	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-J2-8194-01A-11D-2238-08	TCGA-J2-8194-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c3bd6b8-0856-4cd0-bad4-bc1ef07f97cf	1435bbea-7433-40d2-abe7-554d6dc83a08	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													3	4	---	---	---	---					
