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
KCND2	3751	broad.mit.edu	37	7	119915274	119915274	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:119915274C>A	ENST00000331113.4	+	1	1553	c.588C>A	c.(586-588)gcC>gcA	p.A196A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	196					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A196A(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTTCATTGCCGTCTCTGTCA	0.567000													10	77					0.000442599	0.000471323	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78211148	78211148	+	RNA	SNP	C	C	T	rs12592276	by1000genomes	TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr15:78211148C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							AGCTGCTTGTCGAGCTTGTGG	0.597000													5	58					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661139	116661139	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:116661139C>T	ENST00000542499.1	-	4	878	c.806G>A	c.(805-807)gGg>gAg	p.G269E	APOA5_ENST00000227665.4_Missense_Mutation_p.G269E	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	269					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.G269E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGGGCCGGCCCCTTCCTCAGT	0.657000													7	64					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979191	41979191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:41979191G>A	ENST00000372584.1	-	7	6715	c.5701C>T	c.(5701-5703)Cag>Tag	p.Q1901*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.Q1901*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.Q1901*|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.Q1901*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1901					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGGGGGCTGAGGGCCCAGG	0.682000													4	29					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153902	49153902	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:49153902G>A	ENST00000453664.1	-	8	1553	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	USP19_ENST00000434032.2_Missense_Mutation_p.T422M|USP19_ENST00000398896.1_Missense_Mutation_p.T127M|USP19_ENST00000398898.2_Missense_Mutation_p.T359M|USP19_ENST00000398892.3_Missense_Mutation_p.T359M|USP19_ENST00000398888.2_Missense_Mutation_p.T321M|USP19_ENST00000417901.1_Missense_Mutation_p.T422M	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	321					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGATGAGCGTGAAGTCCTG	0.537000													7	142					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128020	56128020	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:56128020C>A	ENST00000303039.3	+	1	330	c.298C>A	c.(298-300)Caa>Aaa	p.Q100K		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGTGCCACCCAACTGGGAGG	0.413000													10	106					1.76689e-08	2.17696e-08	1	1	0
PPP4R4	57718	broad.mit.edu	37	14	94700010	94700010	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:94700010C>T	ENST00000304338.3	+	6	691	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	179						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CACTTGTTTCCAAGGCACAAC	0.328000													9	66					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000119	56000119	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:56000119C>T	ENST00000313264.4	-	1	618	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGATGAGTGGCATGTAGACTC	0.448000													17	201					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472313	92472313	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:92472313C>G	ENST00000267622.4	-	11	2380	c.2007G>C	c.(2005-2007)aaG>aaC	p.K669N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	669					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAGCAACTTTCTTTAAATTTT	0.308000			T	PDGFRB	AML								8	59					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149510810	149510810	+	RNA	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:149510810C>G	ENST00000378016.2	+	0	10095							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGTCACTGCAGCTGCCTGG	0.697000													3	23					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250936	36250936	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:36250936G>A	ENST00000315571.5	+	6	1048	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.E294K|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.E333K	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	343						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGGGCACTGAAGAAGTATA	0.552000													16	130					0	0	1	0	0
PDCD6	10016	broad.mit.edu	37	5	311475	311475	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:311475G>A	ENST00000264933.4	+	5	535	c.435G>A	c.(433-435)caG>caA	p.Q145Q	AHRR_ENST00000316418.5_Intron|PDCD6_ENST00000511482.1_3'UTR|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000507528.1_Silent_p.Q143Q|PDCD6_ENST00000505221.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	145	EF-hand 4.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GACGGGGGCAGATTGCCTTCG	0.577000													10	61					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998347	66998347	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:66998347C>T	ENST00000303334.4	+	5	719	c.648C>T	c.(646-648)ttC>ttT	p.F216F	CES3_ENST00000394037.1_Silent_p.F216F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	216						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.F216F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCGCCCCCTTCGGGGGTGACC	0.577000													7	63					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78923570	78923570	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:78923570G>C	ENST00000545128.1	+	28	4071	c.3533G>C	c.(3532-3534)aGa>aCa	p.R1178T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	897					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GATATTTTGAGAAAACTCCAG	0.418000													3	28					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22208502	22208502	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:22208502G>A	ENST00000229329.2	+	3	647	c.517G>A	c.(517-519)Gtg>Atg	p.V173M		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	173					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTCTCTGTTGTGAGACGCCA	0.333000													6	42					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937394	43937394	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:43937394G>T	ENST00000282406.4	+	13	2249	c.2139G>T	c.(2137-2139)atG>atT	p.M713I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	713	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TATTAAAAATGAGTGGTAAAG	0.363000													8	91					3.09899e-07	3.68004e-07	1	1	0
TSC1	7248	broad.mit.edu	37	9	135778078	135778078	+	Missense_Mutation	SNP	C	C	T	rs118203674		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:135778078C>T	ENST00000298552.3	-	18	2526	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	TSC1_ENST00000440111.2_Missense_Mutation_p.D769N|TSC1_ENST00000545250.1_Missense_Mutation_p.D718N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	769					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACCATAGTGTCACGCTGCTCC	0.468000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	168					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098753	133098753	+	Silent	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:133098753G>C	ENST00000515826.1	+	3	321	c.198G>C	c.(196-198)ctG>ctC	p.L66L	TMEM108_ENST00000321871.6_Silent_p.L66L|TMEM108_ENST00000393130.3_Silent_p.L66L|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	66						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGTGATGCTGACCCCCAATC	0.622000													19	173					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_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)			4	28					2.56e-06	2.94318e-06	1	1	0
SLC44A5	204962	broad.mit.edu	37	1	75672358	75672358	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:75672358G>A	ENST00000370855.5	-	24	2207	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Silent_p.F568F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	698						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGGTTACGAAGTAGGGTT	0.413000													8	115					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113949	161113949	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:161113949C>A	ENST00000523217.1	+	3	407	c.165C>A	c.(163-165)gtC>gtA	p.V55V	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Silent_p.V55V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	55					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGGTGCTGTCACTGAAGTCA	0.443000										TCGA Ovarian(5;0.080)			11	52					3.07112e-06	3.50846e-06	1	1	0
PLD3	23646	broad.mit.edu	37	19	40877597	40877597	+	Silent	SNP	G	G	A	rs139897683		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:40877597G>A	ENST00000409587.1	+	9	1093	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PLD3_ENST00000409419.1_Silent_p.V232V|PLD3_ENST00000409735.4_Silent_p.V232V|PLD3_ENST00000356508.5_Silent_p.V232V|PLD3_ENST00000409281.1_Silent_p.V232V			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	232					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AGCTGGGCGTGGTCATGTACA	0.592000													7	26					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535256	54535256	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:54535256G>A	ENST00000566473.2	+	13	1482	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	ANKFN1_ENST00000318698.2_Silent_p.L494L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	494										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAGGTGGCTGAGGCAAAGCA	0.478000													8	125					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51457258	51457258	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:51457258G>A	ENST00000335891.5	-	7	1828	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1056					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GATGCCCTGCGGTTTAGCCTT	0.517000													7	135					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062964	208062964	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:208062964C>T	ENST00000356522.4	-	5	921	c.600G>A	c.(598-600)gcG>gcA	p.A200A	CD34_ENST00000367036.3_Silent_p.A42A|CD34_ENST00000537704.1_Silent_p.A65A|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Silent_p.A200A	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	200					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TCTTAAACTCCGCCTGGGAAG	0.557000													10	71					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646661	6646661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:6646661G>C	ENST00000299441.3	-	19	7325	c.6914C>G	c.(6913-6915)tCa>tGa	p.S2305*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2305	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGGGTCCTGAGTCCACATC	0.567000													18	129					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744570	70744570	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:70744570C>A	ENST00000260126.3	-	2	1045	c.339G>T	c.(337-339)atG>atT	p.M113I	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.M113I|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.M113I|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	113						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCCTGGAGCATGGCCAAGG	0.607000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	73					3.62473e-10	4.49666e-10	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56208063	56208063	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr15:56208063C>A	ENST00000508342.1	-	1	1266	c.967G>T	c.(967-969)Gtc>Ttc	p.V323F	NEDD4_ENST00000338963.2_Missense_Mutation_p.V323F|NEDD4_ENST00000506154.1_Missense_Mutation_p.V323F|NEDD4_ENST00000435532.3_Intron			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	323					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTCCATTGACAGCTGTTGAA	0.408000													13	122					1.36491e-13	1.71684e-13	1	1	0
OCA2	4948	broad.mit.edu	37	15	28117044	28117044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr15:28117044C>A	ENST00000354638.3	-	20	2259	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	OCA2_ENST00000353809.5_Nonsense_Mutation_p.E678*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	702					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.E702*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCAACATATTCTATTAAGTGG	0.318000									Oculocutaneous Albinism				5	53					0.000602214	0.00063941	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692728	20692728	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:20692728G>T	ENST00000315519.2	+	1	938	c.860G>T	c.(859-861)gGa>gTa	p.G287V		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AACCCAGCAGGAATGCAGAAG	0.433000													16	135					6.31663e-08	7.65202e-08	1	1	0
ARSJ	79642	broad.mit.edu	37	4	114823913	114823913	+	Silent	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:114823913C>G	ENST00000315366.7	-	2	2183	c.1317G>C	c.(1315-1317)ggG>ggC	p.G439G	ARSJ_ENST00000541197.1_Silent_p.G439G	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	439						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGTTCCAGATCCCATAGCCTG	0.507000													32	110					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39927593	39927593	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:39927593G>A	ENST00000564288.1	+	93	22339	c.21562G>A	c.(21562-21564)Gac>Aac	p.D7188N	MACF1_ENST00000567887.1_Missense_Mutation_p.D7225N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5631N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5129N|MACF1_ENST00000372915.3_Missense_Mutation_p.D7087N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4999N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5129N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5129N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7087	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCTGTGGCTGACATTTTCGA	0.443000													16	175					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45677727	45677727	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:45677727C>T	ENST00000273317.4	+	2	1515	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	LIMD1_ENST00000440097.1_Silent_p.F498F|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	498	LIM zinc-binding 1.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACACATGCTTCACCTGTGCAG	0.562000													15	292					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048169	102048169	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:102048169G>A	ENST00000318222.3	-	16	2784	c.2402C>T	c.(2401-2403)aCg>aTg	p.T801M	PKD2L1_ENST00000338519.3_Missense_Mutation_p.T726M|PKD2L1_ENST00000353274.3_3'UTR	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	801					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCTCTGCAACGTTGGAATCTC	0.522000													16	179					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118424322	118424322	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:118424322G>A	ENST00000369210.3	-	4	465	c.411C>T	c.(409-411)ttC>ttT	p.F137F	C10orf82_ENST00000588184.1_Silent_p.F137F	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	137										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGATCTCCAGGAAGTCCTTGT	0.547000													16	145					0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113333785	113333785	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:113333785C>G	ENST00000356049.1	+	2	850	c.92C>G	c.(91-93)tCt>tGt	p.S31C		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	31										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GCCTGGGCCTCTTCCCTGAAG	0.602000													7	49					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183079706	183079706	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:183079706G>A	ENST00000258341.4	+	4	1195	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	313	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACATATGGAGTAGACTGT	0.473000													10	190					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118244398	118244398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:118244398C>T	ENST00000252108.3	+	8	1245	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	UBE4A_ENST00000431736.2_Nonsense_Mutation_p.Q379*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	372					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAACATCCATCAGGTGGAACT	0.468000													8	39					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44112873	44112873	+	Missense_Mutation	SNP	G	G	T	rs3218660	by1000genomes	TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:44112873G>T	ENST00000395831.3	-	9	1361	c.1315C>A	c.(1315-1317)Cac>Aac	p.H439N	POLM_ENST00000335195.6_3'UTR|POLM_ENST00000242248.5_3'UTR			Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGTGGAAGTGGGGGACACAG	0.587000								DNA polymerases (catalytic subunits)					6	54					3.59834e-05	3.96036e-05	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101002	168101002	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:168101002C>T	ENST00000409195.1	+	9	3189	c.3100C>T	c.(3100-3102)Cat>Tat	p.H1034Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.H1034Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H812Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	859					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAAGCATTCATAAATTTCA	0.368000													6	48					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61551040	61551040	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:61551040C>T	ENST00000278836.5	+	23	3183	c.3087C>T	c.(3085-3087)acC>acT	p.T1029T	MYRF_ENST00000265460.5_Silent_p.T989T|MYRF_ENST00000389602.4_Silent_p.T415T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGTCCATCACCTCCCAGTACT	0.612000													10	206					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315260	120315260	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:120315260C>T	ENST00000485064.1	+	1	86	c.54C>T	c.(52-54)ctC>ctT	p.L18L	NDUFB4_ENST00000492739.1_Silent_p.L18L|NDUFB4_ENST00000184266.2_Silent_p.L18L	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	18					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	CTGAGACCCTCGACCCAGCCG	0.587000													5	37					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56082728	56082728	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:56082728C>T	ENST00000257880.7	-	23	3209	c.2990G>A	c.(2989-2991)gGc>gAc	p.G997D	ITGA7_ENST00000257879.6_Missense_Mutation_p.G953D|ITGA7_ENST00000555728.1_Missense_Mutation_p.G997D|ITGA7_ENST00000394230.2_Missense_Mutation_p.G957D|ITGA7_ENST00000452168.2_Missense_Mutation_p.G860D|ITGA7_ENST00000553804.1_Missense_Mutation_p.G957D|ITGA7_ENST00000394229.2_Missense_Mutation_p.G953D|ITGA7_ENST00000347027.6_Missense_Mutation_p.G947D			Q13683	ITA7_HUMAN	integrin, alpha 7	997					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGCCGTGCCCCGGGCGCA	0.587000													10	44					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37692718	37692718	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:37692718G>A	ENST00000539465.1	+	2	673	c.80G>A	c.(79-81)cGc>cAc	p.R27H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R27H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	27						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGCTTCGGCGCTCCCGGGAC	0.532000													14	118					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184963	12184963	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:12184963G>A	ENST00000439326.3	+	2	296	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	ZNF844_ENST00000441304.2_Missense_Mutation_p.A41T	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGGAATCTGGCCTCCATAGG	0.458000													11	97					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337874	40337874	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:40337874A>T	ENST00000310169.2	+	2	234	c.95A>T	c.(94-96)cAg>cTg	p.Q32L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	32					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AAATATGCTCAGAAGTTGTTT	0.403000													11	76					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671048	186671048	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:186671048C>T	ENST00000343098.5	+	17	17282	c.17282C>T	c.(17281-17283)tCa>tTa	p.S5761L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5672L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAACACCACTCAGATTATGAA	0.363000													6	64					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756418	137756418	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:137756418C>T	ENST00000314358.5	+	15	3939	c.3739C>T	c.(3739-3741)Ctc>Ttc	p.L1247F	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Missense_Mutation_p.L279F|KDM3B_ENST00000394866.1_Missense_Mutation_p.L903F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1247					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGTCGGTGCTCAATAAAGA	0.463000													12	110					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								8	95					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178503489	178503489	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:178503489A>T	ENST00000315475.6	+	3	377	c.71A>T	c.(70-72)gAc>gTc	p.D24V		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TTCAGCCAGGACGAGTGGTTG	0.542000													18	113					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578448	7578448	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:7578448G>T	ENST00000420246.2	-	5	614	c.482C>A	c.(481-483)gCc>gAc	p.A161D	TP53_ENST00000359597.4_Missense_Mutation_p.A161D|TP53_ENST00000455263.2_Missense_Mutation_p.A161D|TP53_ENST00000269305.4_Missense_Mutation_p.A161D|TP53_ENST00000445888.2_Missense_Mutation_p.A161D|TP53_ENST00000413465.2_Missense_Mutation_p.A161D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161D(11)|p.0?(8)|p.A161V(8)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A29D(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161T(1)|p.A161fs*8(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTAGATGGCCATGGCGCG	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	68					0.000673444	0.000710858	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35624496	35624496	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:35624496C>T	ENST00000287272.2	+	14	2203	c.2183C>T	c.(2182-2184)cCc>cTc	p.P728L	UNC5D_ENST00000404895.2_Missense_Mutation_p.P797L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P792L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P730L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P802L|UNC5D_ENST00000449677.1_Missense_Mutation_p.P373L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	797			R -> K (in dbSNP:rs35487923).		apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGTTATACGCCCACTACCACC	0.577000													6	92					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65971937	65971937	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:65971937G>A	ENST00000321892.4	+	29	9028	c.8967G>A	c.(8965-8967)ctG>ctA	p.L2989L	BPTF_ENST00000306378.6_Silent_p.L2863L|BPTF_ENST00000424123.3_Silent_p.L2707L|BPTF_ENST00000335221.5_Silent_p.L2846L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2989	Bromo.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAAGCTGACGGAATTTG	0.358000													8	77					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18789789	18789789	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:18789789G>A	ENST00000396576.2	+	4	841	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CACNB2_ENST00000377315.4_Missense_Mutation_p.E121K|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000352115.6_Missense_Mutation_p.E169K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E141K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E169K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E141K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E114K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E115K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	169	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAAGGCTGTGAAATCGGATT	0.408000													5	86					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37343069	37343069	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:37343069C>T	ENST00000394303.3	-	5	735	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.L176L|CACNB1_ENST00000344140.5_Silent_p.L176L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	176				KL -> TV (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGTTCTGGCGCAGCTTCTGTT	0.637000													5	68					0	0	1	0	0
LOC653712	653712	broad.mit.edu	37	3	128580754	128580754	+	RNA	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:128580754G>T	ENST00000498297.1	-	0	699				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						CCACACTGTTGGCGTTTGGTT	0.562000													5	65					0.0215528	0.021917	1	1	0
NCF4	4689	broad.mit.edu	37	22	37271902	37271902	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:37271902C>T	ENST00000397147.4	+	8	1019	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATCACCTTCTCATGGGTCCCT	0.607000													19	179					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109763	74109763	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:74109763C>A	ENST00000389156.4	-	6	662	c.572G>T	c.(571-573)gGt>gTt	p.G191V	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	191										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AAAATCTTTACCTCTGTATTT	0.403000													17	112					0.006122	0.00629642	1	1	0
ZNF718	255403	broad.mit.edu	37	4	155309	155309	+	RNA	SNP	T	T	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:155309T>C	ENST00000510175.1	+	0	744							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GAATTCATTCTGCACAAAAAT	0.348000													7	34					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68615558	68615558	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:68615558G>T	ENST00000234313.7	+	6	876	c.697G>T	c.(697-699)Gat>Tat	p.D233Y		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	233					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TTCCAGTGATGATGATGTGAT	0.453000													12	128					4.3838e-07	5.1887e-07	1	1	0
SATB2	23314	broad.mit.edu	37	2	200137314	200137314	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:200137314C>T	ENST00000443023.1	-	10	3110	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SATB2_ENST00000457245.1_Missense_Mutation_p.E608K|SATB2_ENST00000417098.1_Missense_Mutation_p.E608K|SATB2_ENST00000260926.5_Missense_Mutation_p.E608K|SATB2_ENST00000428695.1_Missense_Mutation_p.E490K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	608						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAACTGTCTTCAGTCGGAGGA	0.517000													15	114					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65473820	65473820	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:65473820T>G	ENST00000260641.5	+	3	479	c.322T>G	c.(322-324)Tta>Gta	p.L108V	ACTR2_ENST00000542850.1_Missense_Mutation_p.L53V|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.L113V	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	108					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTGTAAAATCTTACTCACAGA	0.363000													15	137					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77935506	77935506	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:77935506G>C	ENST00000216479.3	+	9	1091	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	311					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCTGCTCCTGAGGAAGAGCG	0.567000													19	196					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712588	121712588	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:121712588G>A	ENST00000273691.3	-	6	981	c.876C>T	c.(874-876)atC>atT	p.I292I	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.I247I|ILDR1_ENST00000344209.5_Silent_p.I336I|ILDR1_ENST00000462014.1_Silent_p.I304I	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	336						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACAGGTCTCTGATCAGTGGGG	0.612000													4	55					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875046	189875046	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:189875046G>A	ENST00000304636.3	+	49	4136	c.3966G>A	c.(3964-3966)gaG>gaA	p.E1322E	COL3A1_ENST00000317840.5_Silent_p.E1019E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1322	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTAGTGCTGAGAAGAAACACG	0.393000													13	140					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915349	156915349	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:156915349A>C	ENST00000257527.4	-	21	2552	c.2474T>G	c.(2473-2475)aTa>aGa	p.I825R	ADAM19_ENST00000517905.1_Missense_Mutation_p.I825R|ADAM19_ENST00000430702.2_Missense_Mutation_p.I558R|ADAM19_ENST00000394020.1_Missense_Mutation_p.I827R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	825					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTCCTCTCTATTTGAGACCC	0.612000													12	162					0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128949783	128949783	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:128949783A>G	ENST00000388795.5	+	11	1112	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	C4orf29_ENST00000444616.1_Missense_Mutation_p.K285E|C4orf29_ENST00000398965.1_Missense_Mutation_p.K285E			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	285						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TAATTCTAGCAAAACATCTGT	0.368000													6	68					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040006	43040006	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:43040006G>A	ENST00000314890.3	-	2	1562	c.143C>T	c.(142-144)tCa>tTa	p.S48L		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	48							receptor activity										GCTGTCCAGTGAGTACTCTCC	0.582000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	92					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566631	5566631	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:5566631G>A	ENST00000322653.4	-	1	148	c.123C>T	c.(121-123)atC>atT	p.I41I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGTAGATGATACAGAAGG	0.463000													13	120					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403516	144403516	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:144403516G>A	ENST00000523676.1	-	9	1112	c.707C>T	c.(706-708)gCg>gTg	p.A236V	TOP1MT_ENST00000329245.4_Missense_Mutation_p.A334V|TOP1MT_ENST00000521193.1_Missense_Mutation_p.A236V|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A236V			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	334					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGTGTCGGCCGCCTCACCGTC	0.632000													6	71					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875404	189875404	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:189875404G>A	ENST00000304636.3	+	50	4212	c.4042G>A	c.(4042-4044)Gat>Aat	p.D1348N	COL3A1_ENST00000317840.5_Missense_Mutation_p.D1045N	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1348	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACTTCCTGAAGATGTCCTTGA	0.423000													19	173					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28897232	28897232	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:28897232C>T	ENST00000375664.3	+	8	1511	c.902C>T	c.(901-903)tCt>tTt	p.S301F	WAC_ENST00000428935.1_Missense_Mutation_p.S301F|WAC_ENST00000347934.4_Missense_Mutation_p.S243F|WAC_ENST00000354911.4_Missense_Mutation_p.S346F|WAC_ENST00000375646.1_Missense_Mutation_p.S198F			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	346					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTCCCTGTTTCTCCTGTTCCA	0.493000													12	79					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721185	150721185	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:150721185G>C	ENST00000605938.1	-	1	401	c.326C>G	c.(325-327)tCt>tGt	p.S109C	ATG9B_ENST00000605952.1_Missense_Mutation_p.S109C|ATG9B_ENST00000377974.2_Missense_Mutation_p.S109C|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	109	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGAGATGCAGAGGCAGGTGT	0.652000													4	24					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141680707	141680707	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:141680707G>A	ENST00000389484.3	-	21	4117	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1049					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAGCAGGAGAATGAATCTC	0.403000										TSP Lung(27;0.18)			4	56					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45996261	45996261	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:45996261G>A	ENST00000348697.2	+	20	2194	c.2047G>A	c.(2047-2049)Ggg>Agg	p.G683R	FBLN1_ENST00000327858.6_Missense_Mutation_p.G683R			P23142	FBLN1_HUMAN	fibulin 1	683					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATGTGGTCGGGGGCGTGGT	0.612000													77	350					0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58320115	58320115	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:58320115C>T	ENST00000391701.1	-	3	686	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCCCACTCTCACTGAAGACA	0.488000													15	146					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010976	59010976	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:59010976C>T	ENST00000263093.2	-	7	1659	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R433Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	517					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACCAGCTTCCGTTCCGACAG	0.657000													10	128					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697875	109697875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:109697875C>T	ENST00000465301.2	+	3	4276	c.4030C>T	c.(4030-4032)Cag>Tag	p.Q1344*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q1344*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1344										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						ACTGAGCTCTCAGCAGCAGAC	0.522000													14	29					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995422	120995422	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:120995422G>A	ENST00000325954.4	+	6	1365	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	RNF10_ENST00000413266.2_Missense_Mutation_p.G302R	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	302					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGAGAAAGGGGTGTTGGT	0.438000													27	223					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108461	134108461	+	Silent	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:134108461G>C	ENST00000220616.4	+	43	7456	c.7416G>C	c.(7414-7416)gtG>gtC	p.V2472V	TG_ENST00000542445.1_Silent_p.V842V|TG_ENST00000377869.1_Silent_p.V2415V|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Silent_p.V605V|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2472					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2472V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGCCGTGAGTGGCCCTT	0.502000													19	247					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131191138	131191138	+	Silent	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:131191138A>G	ENST00000337057.3	-	15	2353	c.2172T>C	c.(2170-2172)cgT>cgC	p.R724R	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.R724R|EPB41L2_ENST00000527659.1_Silent_p.R654R|EPB41L2_ENST00000524581.1_Silent_p.R102R|EPB41L2_ENST00000527411.1_Silent_p.R654R|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.R654R|EPB41L2_ENST00000529208.1_Silent_p.R654R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	724					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTCCACCTTACGAATCTCCC	0.517000													15	82					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52854808	52854808	+	RNA	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:52854808G>T	ENST00000451298.1	-	0	475				RP11-64P12.8_ENST00000606031.1_RNA																							GTGAGGTCTAGGTCAAATCCA	0.284000													4	56					0.00024832	0.000267593	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274166	51274166	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:51274166C>T	ENST00000270590.4	+	1	446	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	103						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTATATTGTCTCCAGGCAGT	0.537000													7	83					0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13061341	13061341	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:13061341C>T	ENST00000542843.1	-	3	298	c.88G>A	c.(88-90)Gag>Aag	p.E30K	FAM9C_ENST00000380625.3_Missense_Mutation_p.E30K|FAM9C_ENST00000333995.3_Missense_Mutation_p.E30K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	30						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTTCTTTCCTCATGCTCATGA	0.398000													7	70					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056836	102056836	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:102056836G>A	ENST00000318222.3	-	6	1468	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	PKD2L1_ENST00000338519.3_Silent_p.F287F|PKD2L1_ENST00000353274.3_Silent_p.F362F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	362					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTAGAAGATGAAGACGCAGA	0.522000													17	102					0	0	1	0	0
SPHAR	10638	broad.mit.edu	37	1	229440968	229440968	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:229440968A>C	ENST00000366688.3	+	1	840	c.87A>C	c.(85-87)aaA>aaC	p.K29N	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	29					DNA replication							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TATTTCAAAAAGTATCTGAAG	0.284000													4	19					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169060648	169060648	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:169060648G>A	ENST00000359299.3	+	3	298	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	38							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CTGTGACAAAGACATGCTGAT	0.408000													4	52					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283787	159283787	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:159283787G>A	ENST00000332217.5	-	1	662	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGGAGATGATGAGGACATAGG	0.498000													12	170					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119644688	119644688	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:119644688G>C	ENST00000379735.5	-	23	3355	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.I1027M|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.I658M	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	1027					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCAGCTGACAGATCTCCTTGT	0.393000													12	75					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87549856	87549856	+	Silent	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:87549856A>T	ENST00000521271.1	+	7	687	c.525A>T	c.(523-525)ctA>ctT	p.L175L	CPNE3_ENST00000198765.4_Silent_p.L175L	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	175	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GAAACTGGCTAATGGTTCATC	0.333000													6	96					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892467	58892467	+	Silent	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:58892467A>T	ENST00000343597.3	+	4	1088	c.897A>T	c.(895-897)atA>atT	p.I299I	FAM111B_ENST00000529618.1_Silent_p.I269I|FAM111B_ENST00000411426.1_Silent_p.I269I	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	299							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGAGTCTGATACAGTCTAAGA	0.353000													8	89					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581402	26581402	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:26581402C>A	ENST00000376261.3	+	14	1898	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	GAD2_ENST00000259271.3_Silent_p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	465					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T465T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGGACTACCGGGTTTGAAG	0.468000													10	99					6.40141e-05	7.02404e-05	1	1	0
NFAM1	150372	broad.mit.edu	37	22	42807442	42807442	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:42807442C>T	ENST00000329021.5	-	2	459	c.422G>A	c.(421-423)aGa>aAa	p.R141K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	141	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GCCGCTGCCTCTCACCGTGGA	0.592000													8	51					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360119	149360119	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:149360119C>T	ENST00000286298.4	+	3	1231	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	321						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAAGAACTCAATGAACACT	0.398000													12	88					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327009	30327009	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:30327009C>T	ENST00000378970.4	-	1	706	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	NR0B1_ENST00000453287.1_Missense_Mutation_p.V158M	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	158	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCGGAGCCACGTGCGTTTGC	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057853	63057853	+	Silent	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:63057853C>G	ENST00000332793.6	+	1	218	c.216C>G	c.(214-216)ctC>ctG	p.L72L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.L20L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	72						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGATGCCCTCTTGAGAATCT	0.493000													12	131					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30740979	30740979	+	Silent	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:30740979G>C	ENST00000439242.1	-	4	530	c.399C>G	c.(397-399)ctC>ctG	p.L133L	SF3A1_ENST00000215793.7_Silent_p.L198L	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	153					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						GCTGTGGGCGGAGAAAGTCAA	0.572000													23	171					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149326	50149326	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:50149326G>T	ENST00000404971.1	-	24	5739	c.4400C>A	c.(4399-4401)tCc>tAc	p.S1467Y	NRXN1_ENST00000401710.1_Missense_Mutation_p.S415Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1419Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1397Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1397Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1427Y|NRXN1_ENST00000342183.5_Missense_Mutation_p.S362Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1419Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1397					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGTGCTGCTGGACTCCCGGAT	0.542000													5	72					3.59834e-05	3.96036e-05	1	1	0
CDH23	64072	broad.mit.edu	37	10	73464679	73464679	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:73464679C>G	ENST00000224721.6	+	24	2765	c.2760C>G	c.(2758-2760)atC>atG	p.I920M	CDH23_ENST00000299366.7_Missense_Mutation_p.I960M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	915	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.I920I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGTGGCCATCGACCTCGATG	0.647000													13	95					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89425423	89425423	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:89425423G>C	ENST00000264350.3	+	21	2776	c.2623G>C	c.(2623-2625)Gac>Cac	p.D875H	HERC5_ENST00000508159.1_Missense_Mutation_p.D513H	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	875	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTCAACGACTCTGTAAA	0.343000													6	56					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78593302	78593302	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:78593302G>A	ENST00000397909.2	+	37	6879	c.6706G>A	c.(6706-6708)Gtt>Att	p.V2236I	NAV3_ENST00000266692.7_Missense_Mutation_p.V2037I|NAV3_ENST00000541270.1_Missense_Mutation_p.V66I|NAV3_ENST00000228327.6_Missense_Mutation_p.V2214I|NAV3_ENST00000536525.2_Missense_Mutation_p.V2214I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2236						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCTTCTGACGTTACCATTGG	0.378000										HNSCC(70;0.22)			11	63					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113722426	113722426	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:113722426G>A	ENST00000550785.1	+	17	1768	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	TPCN1_ENST00000335509.6_Silent_p.E461E|TPCN1_ENST00000392569.4_Silent_p.E393E|TPCN1_ENST00000541517.1_Silent_p.E533E	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	461						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTCGTGGAGACATTTATGC	0.552000													17	201					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16272689	16272689	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:16272689G>A	ENST00000375733.2	-	5	733	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ZBTB17_ENST00000537142.1_Silent_p.L83L|ZBTB17_ENST00000375743.4_Silent_p.L165L|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Silent_p.L102L			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	165					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCTCCTTGAGGTCCCTGC	0.672000													23	108					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51415347	51415347	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:51415347C>A	ENST00000522124.1	+	9	1034	c.373C>A	c.(373-375)Ctt>Att	p.L125I	SNTG1_ENST00000276467.5_Missense_Mutation_p.L125I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L125I|SNTG1_ENST00000517473.1_Missense_Mutation_p.L125I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	125	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGTTCAGGTTCTTCGGAATGC	0.348000													12	39					3.07112e-06	3.50846e-06	1	1	0
TRIT1	54802	broad.mit.edu	37	1	40313265	40313265	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:40313265C>T	ENST00000316891.5	-	7	897	c.883G>A	c.(883-885)Gag>Aag	p.E295K	TRIT1_ENST00000372818.1_Missense_Mutation_p.E295K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E213K|TRIT1_ENST00000545233.1_Missense_Mutation_p.E49K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	295					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATTTTCCCTCAGTGATCAGG	0.448000													13	221					0	0	1	0	0
GPX4	2879	broad.mit.edu	37	19	1106545	1106545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:1106545G>A	ENST00000589115.1	+	6	579	c.543G>A	c.(541-543)taG>taA	p.181_181ins*	GPX4_ENST00000354171.8_Missense_Mutation_p.E190K			P36969	GPX4_HUMAN	glutathione peroxidase 4	0					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	ACAGGTGATAGAGAAGGACCT	0.647000													8	52					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187189	50187189	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:50187189C>T	ENST00000335999.6	-	10	3487	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1092	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GAGGGCATCTCTTCCCGCCTC	0.667000													15	60					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815341	106815341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:106815341G>T	ENST00000407775.2	+	8	3281	c.3031G>T	c.(3031-3033)Gaa>Taa	p.E1011*	ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E879*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E742*|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E879*|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1011					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAAATGCAGAAAATGAATC	0.428000													15	52					6.72482e-11	8.40021e-11	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59282683	59282683	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:59282683G>A	ENST00000320743.3	-	6	1007	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	LRIG3_ENST00000379141.4_Silent_p.L181L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	241						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGAGACTTCAGAGCACCAAGG	0.388000			T	ROS1	NSCLC								25	198					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350277	100350277	+	RNA	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:100350277C>A	ENST00000542585.1	+	0	2697				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATGGAAAAACCCACCATCTCC	0.498000													9	151					0.307466	0.307466	1	1	0
CHAF1A	10036	broad.mit.edu	37	19	4432137	4432137	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:4432137G>A	ENST00000301280.5	+	12	2237	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	712	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTTCCTGGAGACCCTGC	0.662000								Chromatin Structure					5	64					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217250	26217250	+	Silent	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:26217250A>G	ENST00000303910.2	+	1	86	c.48A>G	c.(46-48)aaA>aaG	p.K16K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	16					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CAAAAGCTAAAACGCGTTCTT	0.542000													7	86					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44698888	44698888	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:44698888C>G	ENST00000290231.6	-	3	490	c.326G>C	c.(325-327)aGa>aCa	p.R109T		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	109	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTCTCTGTATCTGTCGTACAT	0.453000													10	86					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108213995	108213995	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:108213995G>A	ENST00000278616.4	+	57	8700	c.8315G>A	c.(8314-8316)gGa>gAa	p.G2772E	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2772E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2772	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGTGCACAGGAACTGTCCCC	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			20	180					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042150	100042150	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:100042150C>A	ENST00000324341.1	+	1	620	c.198C>A	c.(196-198)gcC>gcA	p.A66A	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	66										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACAACCGTGCCCGAATGGTAA	0.517000													14	150					0.000151284	0.000164005	1	1	0
MADD	8567	broad.mit.edu	37	11	47296554	47296554	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:47296554G>T	ENST00000342922.4	+	3	860	c.503G>T	c.(502-504)cGc>cTc	p.R168L	MADD_ENST00000349238.3_Missense_Mutation_p.R168L|MADD_ENST00000311027.5_Missense_Mutation_p.R168L|MADD_ENST00000395344.3_Missense_Mutation_p.R168L|MADD_ENST00000402799.1_Missense_Mutation_p.R168L|MADD_ENST00000407859.3_Missense_Mutation_p.R168L|MADD_ENST00000406482.1_Missense_Mutation_p.R168L|MADD_ENST00000402192.2_Missense_Mutation_p.R168L|MADD_ENST00000395336.3_Missense_Mutation_p.R168L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	168					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCGGGGAGCCGCTCCCGCAAC	0.602000													12	98					1.08611e-07	1.29401e-07	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37332659	37332659	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:37332659G>A	ENST00000262825.5	+	13	1768	c.1551G>A	c.(1549-1551)caG>caA	p.Q517Q	CSF2RB_ENST00000536485.1_Silent_p.Q458Q|CSF2RB_ENST00000406230.1_Silent_p.Q517Q|CSF2RB_ENST00000403662.3_Silent_p.Q511Q	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	511					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCACACCAGGGGCCGTGGG	0.647000													10	47					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348115	155348115	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:155348115C>T	ENST00000368346.3	-	10	6943	c.6304G>A	c.(6304-6306)Gat>Aat	p.D2102N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2097N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2102	AWS.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGTCATCATCTGGCTTCTTA	0.403000													40	234					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243883	141243883	+	Silent	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:141243883C>G	ENST00000287008.3	-	3	2160	c.2013G>C	c.(2011-2013)ctG>ctC	p.L671L	PCDH1_ENST00000536585.1_Silent_p.L649L|PCDH1_ENST00000456271.1_Silent_p.L659L|PCDH1_ENST00000394536.3_Silent_p.L671L|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	671	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATCAAAGCTCAGGCTGGATA	0.547000													9	92					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741615	120741615	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:120741615G>A	ENST00000202967.4	+	2	310	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	84	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTATGCCCGCACTGACCGC	0.562000													6	90					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	898542	898542	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:898542T>G	ENST00000314167.4	-	5	518	c.408A>C	c.(406-408)aaA>aaC	p.K136N	GAK_ENST00000511163.1_Missense_Mutation_p.K57N	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	136	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGATTCCATTTTCTTCAAAA	0.557000													9	28					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13756665	13756665	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:13756665C>A	ENST00000202816.1	-	3	996	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	297	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGCCACTGTCACTTTTatca	0.413000													19	126					8.00594e-06	9.0885e-06	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32182029	32182029	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:32182029G>A	ENST00000375023.3	-	13	2163	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	675	EGF-like 17.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACACACATGAGGATCTGGTTG	0.577000													7	146					0	0	1	0	0
PTPRCAP	5790	broad.mit.edu	37	11	67203497	67203497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:67203497C>A	ENST00000326294.3	-	2	775	c.328G>T	c.(328-330)Gag>Tag	p.E110*		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	110					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTCCTGCTCATCCTCCTGT	0.672000													8	34					0.00307968	0.00320393	1	1	0
PATL1	219988	broad.mit.edu	37	11	59420359	59420359	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:59420359C>A	ENST00000300146.9	-	10	1338	c.1254G>T	c.(1252-1254)atG>atT	p.M418I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	418	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GCAGTTGCATCATCTGGATTT	0.443000													13	91					0.000151284	0.000164005	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103534677	103534677	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:103534677G>A	ENST00000226574.4	+	23	3155	c.2688G>A	c.(2686-2688)gtG>gtA	p.V896V	NFKB1_ENST00000600343.1_Silent_p.V715V|NFKB1_ENST00000505458.1_Silent_p.V895V|NFKB1_ENST00000394820.4_Silent_p.V895V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	895	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CCAGCCCAGTGAAGACCACCT	0.537000													7	47					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661496	153661496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:153661496G>T	ENST00000368680.3	+	16	2957	c.2485G>T	c.(2485-2487)Gaa>Taa	p.E829*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	829					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAATCTGGAGGAACTGGTGGA	0.622000													19	201					1.45105e-14	1.83157e-14	1	1	0
ITPK1	3705	broad.mit.edu	37	14	93412782	93412782	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:93412782G>A	ENST00000267615.6	-	10	968	c.795C>T	c.(793-795)ctC>ctT	p.L265L	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.L265L|ITPK1_ENST00000555495.1_Silent_p.L146L|ITPK1_ENST00000556603.2_Silent_p.L265L			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	265	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGGCCCGGGAGAGCTCCCGGA	0.617000													6	73					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18878081	18878081	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:18878081A>C	ENST00000446231.2	-	23	3624	c.3212T>G	c.(3211-3213)gTa>gGa	p.V1071G	SMG1_ENST00000389467.3_Missense_Mutation_p.V1071G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1071	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CATAATGGTTACTTCCAATTC	0.358000													7	60					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31311760	31311760	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr21:31311760G>T	ENST00000399914.1	-	1	580	c.59C>A	c.(58-60)gCa>gAa	p.A20E	GRIK1_ENST00000399913.1_Missense_Mutation_p.A20E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A20E|GRIK1_ENST00000389125.3_Missense_Mutation_p.A20E|GRIK1_ENST00000309434.7_Missense_Mutation_p.A20E|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.A20E|GRIK1_ENST00000389124.2_Missense_Mutation_p.A20E|GRIK1_ENST00000399907.1_Missense_Mutation_p.A20E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A20E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	20					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATAGAGGAGTGCCCAGCTGGT	0.622000													5	19					0.184627	0.18514	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018857	14018857	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:14018857C>T	ENST00000279593.3	-	2	495	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	96					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACACCACCCCCTGGATCTTC	0.572000													13	126					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195512117	195512117	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:195512117C>G	ENST00000463781.3	-	2	6793	c.6334G>C	c.(6334-6336)Gct>Cct	p.A2112P	MUC4_ENST00000475231.1_Missense_Mutation_p.A2112P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	880	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCATGAAGAGCGGTGGCGTGA	0.567000													2	3					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24982373	24982373	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:24982373C>T	ENST00000318753.8	-	4	452	c.429G>A	c.(427-429)aaG>aaA	p.K143K	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	143																	GGAGGCTGCTCTTGAGGCTAT	0.612000													12	212					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32908175	32908175	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:32908175C>T	ENST00000324868.8	-	1	661	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	212					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTCATGCCCTCGGGGCTCTTG	0.622000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	152					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735098	140735098	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:140735098G>C	ENST00000571252.1	+	1	331	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTCTTCTAGAAGATACAGT	0.488000													9	70					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243825	121243825	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:121243825C>G	ENST00000297848.3	+	19	2587	c.2317C>G	c.(2317-2319)Caa>Gaa	p.Q773E	COL14A1_ENST00000309791.4_Missense_Mutation_p.Q773E|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.Q678E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	773	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATGACAGCTCAAGGGGACCC	0.443000													5	60					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325607	57325607	+	Silent	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:57325607A>C	ENST00000326441.9	-	10	4566	c.4203T>G	c.(4201-4203)gcT>gcG	p.A1401A	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1277A|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.A1275A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1401A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1401	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				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)		CTGGCTCGGCAGCCTCCACTT	0.577000													13	94					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25507217	25507217	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:25507217C>T	ENST00000278886.6	-	2	80	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	NINL_ENST00000422516.1_Missense_Mutation_p.E3K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	3					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCTCTTCTTCATCCATCCCA	0.582000													18	104					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190711	39190711	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:39190711G>A	ENST00000344363.5	-	1	396	c.363C>T	c.(361-363)ccC>ccT	p.P121P		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	131						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACAGCAGGGGGGCAGGCAGG	0.672000													8	57					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38953591	38953591	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:38953591T>A	ENST00000357387.3	-	28	2792	c.2762A>T	c.(2761-2763)aAa>aTa	p.K921I	RICTOR_ENST00000296782.5_Missense_Mutation_p.K921I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	921					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTTCAGTTTTTTAATTTCTTC	0.284000													19	71					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981820	7981820	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:7981820G>C	ENST00000328600.2	-	2	1500	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	447	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTACTACTCAGGAAAGCGGCA	0.488000													11	176					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1498464	1498464	+	Silent	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:1498464C>G	ENST00000382745.4	-	21	2510	c.1905G>C	c.(1903-1905)gtG>gtC	p.V635V	CLCN7_ENST00000448525.1_Silent_p.V611V|CLCN7_ENST00000262318.8_Silent_p.V611V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	635	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAGGCAGGTCACTGGTGTGC	0.647000													9	39					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69725833	69725833	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:69725833C>T	ENST00000349945.1	+	14	3375	c.1823C>T	c.(1822-1824)tCa>tTa	p.S608L	NFAT5_ENST00000566899.1_Missense_Mutation_p.S608L|NFAT5_ENST00000354436.2_Missense_Mutation_p.S684L|NFAT5_ENST00000567239.1_Missense_Mutation_p.S701L|NFAT5_ENST00000393742.2_Missense_Mutation_p.S608L|NFAT5_ENST00000432919.1_Missense_Mutation_p.S702L	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	684					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGACATCTCACAGCCTGGT	0.478000													17	103					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135438286	135438286	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:135438286G>C	ENST00000394143.1	+	9	7180	c.6887_splice	c.e9-1	p.D2297_splice	GPR112_ENST00000412101.1_Splice_Site_p.D2092_splice|GPR112_ENST00000370652.1_Splice_Site_p.D2297_splice|GPR112_ENST00000394141.1_Splice_Site_p.D2092_splice|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2297					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGATACAGGGACATTTCAGA	0.368000													7	14					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208044	54208044	+	Silent	SNP	T	T	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:54208044T>C	ENST00000259782.4	+	5	741	c.645T>C	c.(643-645)acT>acC	p.T215T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	215					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTGCAACAACTGATCTTCCAG	0.388000													13	42					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21560409	21560409	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:21560409G>T	ENST00000524240.1	-	7	1776	c.1126C>A	c.(1126-1128)Cct>Act	p.P376T	GFRA2_ENST00000400782.4_Missense_Mutation_p.P271T|GFRA2_ENST00000518077.1_Missense_Mutation_p.P243T|GFRA2_ENST00000517328.1_Missense_Mutation_p.P376T	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	376						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCCACCCGAGGGGCCTGGGTG	0.627000													7	24					0.00198382	0.00206982	1	1	0
STAB1	23166	broad.mit.edu	37	3	52538856	52538856	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:52538856C>T	ENST00000321725.6	+	12	1417	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	447	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACGCTGGCCGGGCAGGAGA	0.602000													5	65					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388000													8	73					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824859	54824859	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:54824859G>T	ENST00000243911.2	+	1	1072	c.960G>T	c.(958-960)atG>atT	p.M320I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	357					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCAACGGCATGAACTTGGGAT	0.468000													10	186					0.00829132	0.00850331	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97857328	97857328	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:97857328G>A	ENST00000447648.2	-	17	2810	c.2511C>T	c.(2509-2511)agC>agT	p.S837S	TECPR1_ENST00000379795.3_Silent_p.S838S|TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000542604.1_Silent_p.S767S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	837						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACTTACCTGCTGGTGTAGC	0.567000													4	23					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466293	20466293	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:20466293C>T	ENST00000377252.3	+	9	1857	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.S290F	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	339	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCTGTGTATCTTCTCAGATT	0.348000													15	103					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162361	142162361	+	RNA	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:142162361C>T	ENST00000390371.3	-	0	46																											GGCTGATGCTCATGGCAGGTG	0.562000													7	66					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489591	62489591	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:62489591C>T	ENST00000301785.5	-	7	1549	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E453K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	453					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGCATACCTCACATTCCTCT	0.517000													15	88					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49195911	49195911	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:49195911C>T	ENST00000406846.2	-	9	899	c.780G>A	c.(778-780)aaG>aaA	p.K260K	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.K234K|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	260					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGGCGACAAGCTTTTCCAGAG	0.498000									Gonadal Dysgenesis, 46 XX				8	72					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271557	164271557	+	Silent	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:164271557G>T	ENST00000515560.1	+	4	1654	c.132G>T	c.(130-132)ctG>ctT	p.L44L	NPY5R_ENST00000506953.1_Silent_p.L44L|NPY5R_ENST00000338566.3_Silent_p.L44L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	44					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGTATTTTCTGATTGGGCTCT	0.388000													20	120					8.10497e-08	9.7856e-08	1	1	0
WDR7	23335	broad.mit.edu	37	18	54448787	54448787	+	Silent	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:54448787G>T	ENST00000254442.3	+	19	3301	c.3090G>T	c.(3088-3090)ctG>ctT	p.L1030L	WDR7_ENST00000357574.3_Silent_p.L997L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1030										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)		CGCAGGCCCTGCTTCTGGCGG	0.468000													5	54					1.12685e-05	1.26333e-05	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75248679	75248679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:75248679C>T	ENST00000325680.7	+	4	2057	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q450*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q645*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATACCTCCTCAGTTAACAGC	0.547000													12	75					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579525	7579525	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:7579525G>A	ENST00000420246.2	-	4	294	c.162C>T	c.(160-162)ttC>ttT	p.F54F	TP53_ENST00000359597.4_Silent_p.F54F|TP53_ENST00000455263.2_Silent_p.F54F|TP53_ENST00000269305.4_Silent_p.F54F|TP53_ENST00000445888.2_Silent_p.F54F|TP53_ENST00000413465.2_Silent_p.F54F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	54	Interaction with HRMT1L2.		F -> L (in a sporadic cancer; somatic mutation).|F -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.F54F(2)|p.T55fs*9(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.F54L(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTCTTCAGTGAACCATTGTT	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	221					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292194	33292194	+	Silent	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:33292194A>T	ENST00000280979.4	+	13	5345	c.5175A>T	c.(5173-5175)tcA>tcT	p.S1725S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1725					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGACTCGTTCAGTGGCTGATG	0.483000													21	175					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325199	47325199	+	RNA	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:47325199G>A	ENST00000505841.1	-	0	1204					NR_002788.2																						TCCCTCTCTGGGAAATAAGAA	0.428000													4	8					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159863061	159863061	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:159863061G>C	ENST00000368099.4	-	2	102	c.38C>G	c.(37-39)tCt>tGt	p.S13C	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	13						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGAAGCGGCAGAAGAGGAGCT	0.532000													9	189					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962016	10962016	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:10962016C>G	ENST00000240691.2	-	1	751	c.659G>C	c.(658-660)aGa>aCa	p.R220T		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	220					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGGGGTCTCTGAACCCTGT	0.468000													7	103					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100883805	100883805	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:100883805C>T	ENST00000358544.2	+	61	11811	c.11700C>T	c.(11698-11700)gtC>gtT	p.V3900V	VPS13B_ENST00000357162.2_Silent_p.V3875V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3900					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTGAGTGTCAGTGAGGACA	0.562000													35	206					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46740345	46740345	+	Silent	SNP	C	C	A	rs138693255		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:46740345C>A	ENST00000371975.4	+	16	2499	c.1825C>A	c.(1825-1827)Cga>Aga	p.R609R	RAD54L_ENST00000442598.1_Silent_p.R609R|RAD54L_ENST00000488942.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	609	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCGGGTCTGGCGAGATGGTCA	0.532000								Direct reversal of damage;Homologous recombination					13	150					6.53275e-17	8.30396e-17	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165986770	165986770	+	Missense_Mutation	SNP	G	G	T	rs146737695		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:165986770G>T	ENST00000360093.3	-	17	3093	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	SCN3A_ENST00000409101.3_Missense_Mutation_p.L819I|SCN3A_ENST00000283254.7_Missense_Mutation_p.L868I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	868						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCATATTTAGTGTGGGCCAG	0.373000													12	129					0.00010058	0.000109696	1	1	0
CHD8	57680	broad.mit.edu	37	14	21894288	21894288	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:21894288T>A	ENST00000399982.2	-	4	1779	c.1716_splice	c.e4+1	p.Q572_splice	CHD8_ENST00000430710.3_Splice_Site_p.Q293_splice|CHD8_ENST00000557364.1_Splice_Site_p.Q572_splice|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	572					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCTTTTACCTGAATGCTGCT	0.378000													3	18					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760716	7760716	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:7760716G>T	ENST00000340209.4	+	13	1475	c.1178G>T	c.(1177-1179)cGa>cTa	p.R393L	RBFOX1_ENST00000311745.5_Missense_Mutation_p.R409L|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R361L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R388L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R388L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R383L|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	388					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTATATACCGAGGGGGATAC	0.438000													6	98					0.00116845	0.00122976	1	1	0
CPZ	8532	broad.mit.edu	37	4	8602885	8602885	+	Translation_Start_Site	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:8602885G>A	ENST00000382480.2	+	0	546				CPZ_ENST00000360986.4_Missense_Mutation_p.D53N|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.D42N	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACCTGCAGTGATGCCGCCTA	0.632000													8	52					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29551276	29551276	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:29551276C>A	ENST00000389048.3	-	6	2260	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	452	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGGCCTGCCCAAGCTGGAGG	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	95					1.08611e-07	1.29401e-07	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54848314	54848314	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:54848314G>A	ENST00000291759.4	-	6	1109	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	351	Ig-like C2-type 4.					integral to membrane	receptor activity	p.F351L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAAGGAAAGTGAACATCGGGT	0.582000													13	136					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54448788	54448788	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:54448788C>T	ENST00000254442.3	+	19	3302	c.3091C>T	c.(3091-3093)Ctt>Ttt	p.L1031F	WDR7_ENST00000357574.3_Missense_Mutation_p.L998F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1031										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)		GCAGGCCCTGCTTCTGGCGGA	0.473000													5	55					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136118	156136118	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:156136118G>A	ENST00000329476.3	+	2	1516	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	NPY2R_ENST00000506608.1_Missense_Mutation_p.E343K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	343					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTCCGCTGTGAGCAGCGGTT	0.512000													8	107					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73476214	73476214	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:73476214C>A	ENST00000539919.1	+	9	1118	c.747C>A	c.(745-747)ctC>ctA	p.L249L	CCT7_ENST00000398422.2_Silent_p.L89L|CCT7_ENST00000258091.5_Silent_p.L293L|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.L206L|CCT7_ENST00000538797.1_Silent_p.L165L|CCT7_ENST00000537131.1_Silent_p.L193L	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	293					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGTCCAAACTCCCCATTGGGG	0.478000													10	69					7.48243e-07	8.76999e-07	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088015	94088015	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:94088015G>T	ENST00000553484.1	+	31	4656	c.4502G>T	c.(4501-4503)aGc>aTc	p.S1501I	UNC79_ENST00000555664.1_Missense_Mutation_p.S1479I|UNC79_ENST00000256339.4_Missense_Mutation_p.S1302I|UNC79_ENST00000393151.2_Missense_Mutation_p.S1479I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1479						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTACAAGACAGCCTTCTCCAC	0.378000													10	92					2.17888e-05	2.43522e-05	1	1	0
LPAL2	80350	broad.mit.edu	37	6	160908334	160908334	+	RNA	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:160908334C>T	ENST00000335388.5	-	0	638					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTCAGAGGCGCGGCCACAGCC	0.512000													10	69					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207454132	207454132	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:207454132G>C	ENST00000264377.3	+	21	2180		c.e21-1		ADAM23_ENST00000374416.1_Splice_Site|ADAM23_ENST00000374415.3_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATCTCCAAAAGAGGCTGCAGG	0.443000													7	30					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413304	1413304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:1413304C>T	ENST00000381524.3	+	8	916	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.Q111*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000355805.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	244						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGACCTATCAGAAGCTGTC	0.602000													13	129					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762039	130762039	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:130762039A>G	ENST00000392429.1	+	2	2850	c.472A>G	c.(472-474)Ata>Gta	p.I158V	TMEM200A_ENST00000296978.3_Missense_Mutation_p.I158V|TMEM200A_ENST00000545622.1_Missense_Mutation_p.I158V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	158						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACCAAAATCATACACATGAG	0.413000													16	96					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497440	157497440	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:157497440G>T	ENST00000361835.3	-	9	2084	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	FCRL5_ENST00000356953.4_Missense_Mutation_p.Q643K|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q643K|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q558K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	643	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCACTGTGCTGGGCCACTAGG	0.473000													17	140					2.5808e-16	3.26901e-16	1	1	0
FKTN	2218	broad.mit.edu	37	9	108397356	108397356	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:108397356G>T	ENST00000540160.1	+	7	927	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L	FKTN_ENST00000602661.1_Silent_p.L399L|FKTN_ENST00000357998.5_Silent_p.L399L|FKTN_ENST00000223528.2_Silent_p.L399L|FKTN_ENST00000448551.2_Silent_p.L399L			O75072	FKTN_HUMAN	fukutin	0					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTTACACTGTGCTGGACTG	0.438000													13	147					9.31168e-06	1.0472e-05	1	1	0
NOXO1	124056	broad.mit.edu	37	16	2030133	2030133	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:2030133C>A	ENST00000354249.4	-	5	817	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	NOXO1_ENST00000356120.4_Missense_Mutation_p.G151C|NOXO1_ENST00000566005.1_Missense_Mutation_p.G155C|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000397280.4_Missense_Mutation_p.G156C	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	156					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GAGAGGCGGCCCGCAGCGCGA	0.667000													3	9					0.115264	0.11623	1	1	0
ACOT11	26027	broad.mit.edu	37	1	55063027	55063027	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:55063027G>T	ENST00000371316.3	+	7	785	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.G235C	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	235	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAATCACCAGGGCAACACCTT	0.622000													4	44					2.56e-06	2.94318e-06	1	1	0
OLFM4	10562	broad.mit.edu	37	13	53603017	53603017	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:53603017G>T	ENST00000219022.2	+	1	124	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	16					cell adhesion	extracellular space		p.G16C(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTCTTCCTTGGCCAAGCTGC	0.587000													13	201					9.31168e-06	1.0472e-05	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215408400	215408400	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:215408400C>A	ENST00000444842.2	+	7	1343	c.1193C>A	c.(1192-1194)cCc>cAc	p.P398H	KCNK2_ENST00000391894.2_Missense_Mutation_p.P383H|KCNK2_ENST00000391895.2_Missense_Mutation_p.P394H	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	398	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTCTTGCCTCCCTTACTGAAG	0.498000													17	91					0.000422831	0.000452944	1	1	0
NOL4	8715	broad.mit.edu	37	18	31803023	31803023	+	Silent	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:31803023G>T	ENST00000261592.5	-	1	492	c.195C>A	c.(193-195)ggC>ggA	p.G65G	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.G65G	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	65						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CGTCCGGCTGGCCCAGCTGGA	0.587000													7	75					2.7689e-08	3.38838e-08	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101654041	101654041	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:101654041C>G	ENST00000409318.1	-	8	1535	c.1405G>C	c.(1405-1407)Gtc>Ctc	p.V469L	TBC1D8_ENST00000376840.4_Missense_Mutation_p.V454L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	454					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAGGCGGTGACCAGGGCATCG	0.582000													9	89					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	591441	591441	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:591441C>G	ENST00000264555.5	+	5	606	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	PHRF1_ENST00000533464.1_Missense_Mutation_p.Q156E|PHRF1_ENST00000413872.2_Missense_Mutation_p.Q159E|PHRF1_ENST00000416188.2_Missense_Mutation_p.Q160E	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	160							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TATTCGAGCTCAATTTGGTGG	0.458000													3	19					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102825812	102825812	+	Silent	SNP	G	G	A	rs145802438		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:102825812G>A	ENST00000216756.6	-	2	160	c.120C>T	c.(118-120)ctC>ctT	p.L40L	CINP_ENST00000536961.2_Silent_p.L55L|CINP_ENST00000541568.2_Silent_p.L40L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	40					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						CTGCATCATTGAGGGTTTCCC	0.373000													10	68					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178927405	178927405	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:178927405G>A	ENST00000263967.3	+	7	1325	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	390	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GCTGAATTATGATATATACAT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	115					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25261030	25261030	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:25261030C>G	ENST00000216962.4	+	10	1331	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	407					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TCTATGCCATCAACCAGCGGC	0.642000													11	85					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83732233	83732233	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:83732233G>C	ENST00000369747.3	-	7	907	c.785C>G	c.(784-786)tCc>tGc	p.S262C		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	262						cytoplasm	ligase activity										TCTAGCAGAGGAGAGCTGCAC	0.388000													7	39					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277854	152277854	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:152277854G>T	ENST00000368799.1	-	3	9543	c.9508C>A	c.(9508-9510)Caa>Aaa	p.Q3170K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3170	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)			TCTCCTGATTGTTCCTCATTA	0.547000									Ichthyosis				74	547					9.63364e-24	1.23763e-23	1	1	0
AC015849.16	0	broad.mit.edu	37	17	34236274	34236274	+	RNA	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:34236274G>T	ENST00000587132.1	-	0	1753																											TCTGAACCTGGTGTGGATGTG	0.448000													8	103					0.00448238	0.00464983	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670643	186670643	+	Nonsense_Mutation	SNP	C	C	G	rs77024031		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:186670643C>G	ENST00000343098.5	+	17	16877	c.16877C>G	c.(16876-16878)tCa>tGa	p.S5626*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.S5537*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGAATGTATCAAAAGTTACT	0.308000													5	62					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54659091	54659091	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:54659091G>A	ENST00000406403.1	+	17	3811	c.2208G>A	c.(2206-2208)aaG>aaA	p.K736K	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Silent_p.K736K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	736					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCGGAAGAAGGAAGGCT	0.632000													4	26					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937290	29937290	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:29937290G>C	ENST00000568000.1	-	1	1066	c.65C>G	c.(64-66)tCg>tGg	p.S22W	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Missense_Mutation_p.S22W	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	22					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CTCGAGACCCGAGGGCTTGGG	0.711000													6	27					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117246	37117246	+	Silent	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:37117246A>T	ENST00000435416.1	+	3	1939	c.444A>T	c.(442-444)ctA>ctT	p.L148L	ZNF382_ENST00000423582.1_Silent_p.L100L|ZNF382_ENST00000292928.2_Silent_p.L149L|ZNF382_ENST00000439428.1_Silent_p.L148L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	149	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTCAGAACTAGTCATTAGAA	0.333000													8	107					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70673214	70673214	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:70673214G>A	ENST00000373585.3	+	6	932	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	275	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACCATCTGCAGAGTGGCCGAT	0.393000													8	103					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43905556	43905556	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:43905556G>C	ENST00000562955.1	+	50	6876	c.6876G>C	c.(6874-6876)caG>caC	p.Q2292H	SZT2_ENST00000372442.1_Missense_Mutation_p.Q1450H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2349						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCAGCTCAGAATGGGGCCC	0.557000													10	71					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268606	21268606	+	Silent	SNP	T	T	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:21268606T>A	ENST00000602326.1	-	12	1474	c.891A>T	c.(889-891)ccA>ccT	p.P297P	EIF4G3_ENST00000374927.4_Silent_p.P291P|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.P297P|EIF4G3_ENST00000356916.3_Silent_p.P302P|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000400422.1_Silent_p.P291P|EIF4G3_ENST00000264211.8_Silent_p.P291P	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	291					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGTGAATATTGGTTGGCTAC	0.478000													29	194					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190170	233190170	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:233190170C>T	ENST00000258229.8	-	25	4429	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E51K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1399						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGAGGGACTCCTGGAGGGTC	0.443000													4	47					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014071	58014071	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:58014071G>T	ENST00000379218.2	+	1	379	c.68G>T	c.(67-69)aGg>aTg	p.R23M	SLC26A10_ENST00000320442.4_Missense_Mutation_p.R23M			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	23						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AAGTCCTGGAGGTTGGACAAG	0.552000													53	634					6.81593e-30	8.81918e-30	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140741832	140741832	+	Silent	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:140741832A>T	ENST00000522605.1	+	1	2130	c.2130A>T	c.(2128-2130)gcA>gcT	p.A710A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTCTGGCAATCTCCCTGC	0.577000													8	137					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406633	75406633	+	Nonsense_Mutation	SNP	G	G	C	rs138872746		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr10:75406633G>C	ENST00000394810.2	-	4	2926	c.2777C>G	c.(2776-2778)tCa>tGa	p.S926*	SYNPO2L_ENST00000372873.4_Nonsense_Mutation_p.S702*|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	926	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AACAGGGGCTGAGGCCAGTTC	0.657000													9	74					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229648	74229648	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:74229648G>C	ENST00000316292.9	-	1	1093	c.102C>G	c.(100-102)atC>atG	p.I34M	EEF1A1_ENST00000331523.2_Missense_Mutation_p.I34M|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I34M	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	34						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTTTTGTCGATGCCACCGC	0.413000													11	85					0	0	1	0	0
FIGLA	344018	broad.mit.edu	37	2	71012592	71012592	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:71012592G>T	ENST00000332372.6	-	3	568	c.564C>A	c.(562-564)caC>caA	p.H188Q		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	188					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						ACATCACACTGTGGCGACAAG	0.453000													32	290					1.22384e-17	1.56668e-17	1	1	0
RHD	6007	broad.mit.edu	37	1	25628093	25628093	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:25628093C>G	ENST00000328664.4	+	5	872	c.717C>G	c.(715-717)ttC>ttG	p.F239L	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.F239L|RHD_ENST00000417538.2_Missense_Mutation_p.F239L|RHD_ENST00000357542.4_Missense_Mutation_p.F239L|RHD_ENST00000342055.5_Missense_Mutation_p.F239L|RHD_ENST00000454452.2_Missense_Mutation_p.F239L|RHD_ENST00000568195.1_Missense_Mutation_p.F239L	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	239						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGCCGTGTTCAACACCTACT	0.562000													40	119					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142060	3142060	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:3142060C>T	ENST00000252463.2	-	2	576	c.489G>A	c.(487-489)ctG>ctA	p.L163L	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	163	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGCTTTCTTGCAGGGCCTGGA	0.662000													8	67					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434870	64434870	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:64434870C>A	ENST00000265459.6	-	9	2111	c.1650G>T	c.(1648-1650)cgG>cgT	p.R550R	NRXN2_ENST00000377551.1_Silent_p.R550R|NRXN2_ENST00000377559.3_Silent_p.R519R|NRXN2_ENST00000409571.1_Silent_p.R543R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	550	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGTAGTCGGCCCGCTGAGCAG	0.642000													16	130					1.5739e-10	1.95923e-10	1	1	0
DCT	1638	broad.mit.edu	37	13	95117905	95117905	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:95117905C>A	ENST00000377028.5	-	4	1258	c.845G>T	c.(844-846)tGg>tTg	p.W282L	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.W282L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	282					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GACAGTTTCCCAGCTGGAGAA	0.488000													5	67					0.184627	0.18514	1	1	0
ARMCX5	64860	broad.mit.edu	37	X	101857412	101857412	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:101857412A>G	ENST00000604957.1	+	1	2965	c.343A>G	c.(343-345)Agg>Ggg	p.R115G	ARMCX5_ENST00000536530.1_Missense_Mutation_p.R115G|ARMCX5_ENST00000246174.2_Missense_Mutation_p.R115G|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R115G|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R115G|ARMCX5_ENST00000537008.1_Missense_Mutation_p.R115G|RP4-769N13.6_ENST00000476910.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	115							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GCCTATGTCTAGGGTCAGTAC	0.448000													57	133					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162257211	162257211	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:162257211G>A	ENST00000361897.5	+	3	657	c.255G>A	c.(253-255)ctG>ctA	p.L85L	NOS1AP_ENST00000530878.1_Silent_p.L85L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	85	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGA	0.433000													10	81					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50062753	50062753	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:50062753G>T	ENST00000354234.4	+	12	2810	c.1904G>T	c.(1903-1905)gGc>gTc	p.G635V	SETDB2_ENST00000317257.8_Missense_Mutation_p.G647V	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	647	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GGAAATGTCGGCCGCTTCCTT	0.348000													7	61					0.0381472	0.0385746	1	1	0
MRO	83876	broad.mit.edu	37	18	48331593	48331593	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:48331593C>A	ENST00000428869.2	-	6	618	c.360G>T	c.(358-360)aaG>aaT	p.K120N	MRO_ENST00000256425.2_Missense_Mutation_p.K120N|MRO_ENST00000431965.2_Missense_Mutation_p.K134N|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Missense_Mutation_p.K120N|MRO_ENST00000588444.1_Missense_Mutation_p.K120N|MRO_ENST00000436348.2_Missense_Mutation_p.K134N			Q9BYG7	MSTRO_HUMAN	maestro	120						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCCCTGGATCTTGCCCAGAA	0.433000													16	100					5.35267e-07	6.31475e-07	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205238836	205238836	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:205238836G>A	ENST00000358024.3	+	3	1895	c.1506G>A	c.(1504-1506)ggG>ggA	p.G502G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.G277G|TMCC2_ENST00000545499.1_Silent_p.G424G|TMCC2_ENST00000329800.7_Silent_p.G262G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	502						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGCGCTGGGGAGCCCTAAGT	0.632000													20	121					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058557	121058557	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:121058557G>C	ENST00000392793.1	+	21	6287	c.6016G>C	c.(6016-6018)Gat>Cat	p.D2006H	TECTA_ENST00000264037.2_Missense_Mutation_p.D2006H			O75443	TECTA_HUMAN	tectorin alpha	2006	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAACCTCAAAGATAACACCAT	0.408000													33	115					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253826	36253826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:36253826G>A	ENST00000296604.3	-	12	1575	c.1090C>T	c.(1090-1092)Caa>Taa	p.Q364*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.Q389*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	364	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTTGCTCTTTGAATCTTCATT	0.378000													7	83					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749652	80749652	+	Silent	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:80749652G>C	ENST00000458043.2	+	46	5709	c.5703G>C	c.(5701-5703)acG>acC	p.T1901T	OTOGL_ENST00000547103.1_Silent_p.T1889T	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGAGCCCACGCCAGTTTGTG	0.433000													41	211					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967536	200967536	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:200967536G>T	ENST00000332129.2	-	14	2369	c.2053C>A	c.(2053-2055)Cgc>Agc	p.R685S	KIF21B_ENST00000422435.2_Missense_Mutation_p.R685S|KIF21B_ENST00000461742.2_Missense_Mutation_p.R685S|KIF21B_ENST00000360529.5_Missense_Mutation_p.R685S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	685					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACACGGTCGCGCTCCAGCTGT	0.607000													28	150					2.47511e-08	3.03916e-08	1	1	0
WNK1	65125	broad.mit.edu	37	12	993991	993991	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:993991A>C	ENST00000537687.1	+	19	5444	c.4801A>C	c.(4801-4803)Agt>Cgt	p.S1601R	WNK1_ENST00000535572.1_Missense_Mutation_p.S1094R|WNK1_ENST00000530271.2_Missense_Mutation_p.S1839R|WNK1_ENST00000340908.4_Missense_Mutation_p.S934R|WNK1_ENST00000315939.6_Missense_Mutation_p.S1341R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1341					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCTTTCTTAAGTAGCATTGC	0.478000													15	144					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129944317	129944317	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:129944317G>A	ENST00000222482.4	+	5	412		c.e5-1		CPA4_ENST00000445470.2_Splice_Site|CPA4_ENST00000493259.1_Splice_Site	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4						histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCATGCTTCAGATTTACCACG	0.438000													7	101					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221648	5221648	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:5221648A>C	ENST00000321255.1	-	1	282	c.283T>G	c.(283-285)Tgg>Ggg	p.W95G		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	95					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)		ATGATCCCCCACAGGATCCCC	0.547000													5	80					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142505507	142505507	+	RNA	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:142505507C>G	ENST00000430863.1	-	0	419					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GAGCCATGTTCTTGATCTTCT	0.537000													14	97					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961693	34961693	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:34961693G>A	ENST00000329357.5	+	1	781	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	249	Pro-rich.							p.V249M(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATCTCCGCGTGGATCCTCC	0.627000													5	67					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651958	121651958	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:121651958C>T	ENST00000393386.2	+	12	3269	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	953					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGCATGATTCTGTGGGTGTA	0.448000													8	132					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975855	76975855	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:76975855G>T	ENST00000409911.1	-	3	1965	c.1742C>A	c.(1741-1743)gCa>gAa	p.A581E	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A580E|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A580E	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	580						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GATGGCCGGTGCTGCCGACCT	0.597000													14	182					2.23348e-06	2.58426e-06	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102025811	102025811	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:102025811G>A	ENST00000549145.1	+	7	515	c.415G>A	c.(415-417)Gag>Aag	p.E139K	MYBPC1_ENST00000441232.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E151K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E100K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E126K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E114K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E113K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E27K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E126K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E151K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E112K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	126	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTACACATTTGAGATGCAGAT	0.393000													10	108					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67795528	67795528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:67795528C>G	ENST00000316367.6	+	9	685	c.611C>G	c.(610-612)tCa>tGa	p.S204*	RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000539229.1_3'UTR|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_3'UTR|ALDH3B1_ENST00000007633.8_3'UTR			P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	0					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGGCACCCCTCAAAGCAGCGC	0.677000													3	23					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178489553	178489553	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:178489553C>T	ENST00000367641.3	+	6	382	c.323C>T	c.(322-324)aCa>aTa	p.T108I	TEX35_ENST00000367639.1_Missense_Mutation_p.T116I|TEX35_ENST00000258298.2_Missense_Mutation_p.T32I|TEX35_ENST00000367643.3_Missense_Mutation_p.T108I|TEX35_ENST00000319416.2_Missense_Mutation_p.T108I|TEX35_ENST00000367642.3_Intron					testis expressed 35																		TTAATAAATACACAGAAGAAC	0.413000													18	83					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30847250	30847250	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:30847250C>G	ENST00000383096.3	-	13	1370	c.1188G>C	c.(1186-1188)ttG>ttC	p.L396F	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.L396F|CCDC178_ENST00000583930.1_Missense_Mutation_p.L396F|CCDC178_ENST00000406524.2_Missense_Mutation_p.L396F|CCDC178_ENST00000402325.1_Missense_Mutation_p.L396F|CCDC178_ENST00000579947.1_Missense_Mutation_p.L396F|CCDC178_ENST00000300227.8_Missense_Mutation_p.L396F					coiled-coil domain containing 178																		AAACTCTTCTCAAATCTTCCA	0.303000													7	42					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056424	53056424	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:53056424C>G	ENST00000359798.4	+	5	435	c.255C>G	c.(253-255)atC>atG	p.I85M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAGAAGTGATCCACACAGGGA	0.368000													27	261					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001038	145001038	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:145001038G>A	ENST00000322810.4	-	30	4538	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	PLEC_ENST00000356346.3_Missense_Mutation_p.R1306C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1343C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1324C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1298C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1288C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1347C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1320C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1320C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1457	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAGTGCGTACGCAGGTCCACG	0.622000													7	97					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503078	140503078	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:140503078G>T	ENST00000194152.1	+	1	1498	c.1498G>T	c.(1498-1500)Gcc>Tcc	p.A500S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.682000													34	178					1.93748e-29	2.49796e-29	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902012	247902012	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:247902012C>A	ENST00000283225.2	+	1	96	c.96C>A	c.(94-96)atC>atA	p.I32I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCTCACTGATCTACCTCACGG	0.448000													13	100					0.00010058	0.000109696	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2698293	2698293	+	Silent	SNP	G	G	A	rs148867245		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:2698293G>A	ENST00000324666.5	+	16	2958	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	FAM193A_ENST00000502458.1_Silent_p.A891A|FAM193A_ENST00000505311.1_Silent_p.A869A|FAM193A_ENST00000382839.3_Silent_p.A869A|FAM193A_ENST00000545951.1_Silent_p.A869A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	869										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CGCGTGCAGCGAAGCGAGCAA	0.547000													8	58					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488400	1488400	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:1488400C>A	ENST00000345913.4	+	9	1462	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.I284I|TPO_ENST00000346956.3_Silent_p.I457I|TPO_ENST00000337415.3_Silent_p.I457I|TPO_ENST00000329066.4_Silent_p.I457I|TPO_ENST00000382198.1_Silent_p.I284I|TPO_ENST00000382201.3_Silent_p.I457I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	457					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.I457I(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCCCAGGATCCTGGGACCCG	0.592000													8	45					1.06961e-07	1.28282e-07	1	1	0
HIRA	7290	broad.mit.edu	37	22	19376021	19376021	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:19376021G>C	ENST00000263208.5	-	10	1249	c.993C>G	c.(991-993)atC>atG	p.I331M	HIRA_ENST00000340170.4_Missense_Mutation_p.I331M|HIRA_ENST00000541063.1_Missense_Mutation_p.I287M|HIRA_ENST00000546308.1_Missense_Mutation_p.I287M	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	331					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAATATCCATGATGGATTTGT	0.443000													4	56					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882250	68882250	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:68882250G>T	ENST00000303786.3	+	3	1144	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	PROKR1_ENST00000394342.2_Missense_Mutation_p.V242L			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATAGAATTCGTGGGCCCCGT	0.552000													7	139					5.18039e-06	5.89944e-06	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133306800	133306800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:133306800C>A	ENST00000539605.1	-	10	8446	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	ANKLE2_ENST00000357997.5_Nonsense_Mutation_p.E650*|ANKLE2_ENST00000542657.1_Nonsense_Mutation_p.E5*|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Nonsense_Mutation_p.E5*			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	650						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTTTTATTTCTTCCAAGCTC	0.512000													8	84					1.06961e-07	1.28282e-07	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89156898	89156898	+	RNA	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:89156898C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							TGTTGAAGCTCTTTGTGACGG	0.582000													10	82					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090339	103090339	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:103090339G>T	ENST00000295269.4	+	1	578	c.121G>T	c.(121-123)Gca>Tca	p.A41S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	41					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGCTCAGTATGCATCTAACGC	0.433000													14	192					0.000308642	0.000331606	1	1	0
GOT2	2806	broad.mit.edu	37	16	58752180	58752180	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:58752180G>A	ENST00000245206.5	-	6	750	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	GOT2_ENST00000434819.2_Missense_Mutation_p.L165F|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	208					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCATGCAGAAGAAGAACACTC	0.488000													8	76					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57099940	57099940	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:57099940G>C	ENST00000278412.2	-	7	1055	c.789C>G	c.(787-789)atC>atG	p.I263M		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	263					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GGCCTTGCTTGATTGGGGGAT	0.473000													17	172					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692700	145692700	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:145692700C>T	ENST00000301332.2	+	4	822	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	149					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCAGCCCCTCGGGTCCGGCC	0.617000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	124					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687289	123687289	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:123687289C>G	ENST00000606320.1	-	10	1869	c.1663G>C	c.(1663-1665)Gaa>Caa	p.E555Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E403Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E403Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E525Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	403					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACAGTGTTTTCTTCATCTACA	0.438000													20	165					0	0	1	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135484	23135484	+	RNA	SNP	T	T	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:23135484T>A	ENST00000390314.2	+	0	388																											TGCAGGCAGCTACACTTTCCA	0.557000													10	166					0	0	1	0	0
HCG27	253018	broad.mit.edu	37	6	31170488	31170488	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr6:31170488C>A	ENST00000383331.4	+	2	463	c.463C>A	c.(463-465)Caa>Aaa	p.Q155K	HCG27_ENST00000415276.1_3'UTR																							CCCCAGAACCCAAGGGCCCCT	0.557000													13	107					9.31168e-06	1.0472e-05	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50149325	50149325	+	Silent	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:50149325G>T	ENST00000404971.1	-	24	5740	c.4401C>A	c.(4399-4401)tcC>tcA	p.S1467S	NRXN1_ENST00000401710.1_Silent_p.S415S|NRXN1_ENST00000402717.3_Silent_p.S1419S|NRXN1_ENST00000406316.2_Silent_p.S1397S|NRXN1_ENST00000406859.3_Silent_p.S1397S|NRXN1_ENST00000401669.2_Silent_p.S1427S|NRXN1_ENST00000342183.5_Silent_p.S362S|NRXN1_ENST00000405472.3_Silent_p.S1419S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1397					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGTGCTGCTGGACTCCCGGA	0.542000													5	72					3.59834e-05	3.96036e-05	1	1	0
TTI1	9675	broad.mit.edu	37	20	36627655	36627655	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:36627655C>A	ENST00000373448.2	-	6	2966	c.2728G>T	c.(2728-2730)Gcc>Tcc	p.A910S	TTI1_ENST00000373447.3_Missense_Mutation_p.A910S|TTI1_ENST00000449821.1_Missense_Mutation_p.A910S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	910							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAGGGCCAGGCCTGATGAGCC	0.562000													10	78					4.68919e-08	5.69965e-08	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32138114	32138114	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:32138114G>A	ENST00000312561.4	+	4	4639	c.4225G>A	c.(4225-4227)Gac>Aac	p.D1409N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAAATTAGGTGACTCTTTGTC	0.348000													7	86					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38853095	38853095	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:38853095A>G	ENST00000409235.3	+	19	2352	c.2237A>G	c.(2236-2238)tAc>tGc	p.Y746C	CATSPERG_ENST00000410018.1_Missense_Mutation_p.Y706C|CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	746					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GAAAAGATCTACAACCTCGAG	0.587000													7	114					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877750	2877750	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:2877750G>A	ENST00000355842.3	+	3	971	c.108G>A	c.(106-108)ttG>ttA	p.L36L	ADD1_ENST00000503455.2_Silent_p.L36L|ADD1_ENST00000513328.2_Silent_p.L36L|ADD1_ENST00000446856.1_Silent_p.L36L|ADD1_ENST00000398129.1_Silent_p.L36L|ADD1_ENST00000264758.7_Silent_p.L36L|ADD1_ENST00000398123.2_Silent_p.L36L|ADD1_ENST00000398125.1_Silent_p.L36L			P35611	ADDA_HUMAN	adducin 1 (alpha)	36					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGAGTACTTGAGGGAGAGGA	0.542000													32	126					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88388419	88388419	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:88388419C>G	ENST00000298699.2	-	7	763	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.E195Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	195										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTCCATTTTCAAAAGCAGCA	0.313000													4	49					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994192	49994192	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:49994192C>G	ENST00000544141.1	-	4	1560	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	FAM186B_ENST00000257894.2_Missense_Mutation_p.E411Q|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	411						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAAGGCTCTCAGTGTCCTTG	0.532000													14	124					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100732542	100732542	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:100732542C>T	ENST00000360820.2	+	18	2819	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	794	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACCAGAACTTCTACAGTAGTC	0.433000													18	204					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602000													9	171					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130345	187130345	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:187130345G>A	ENST00000378802.4	+	10	1628	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	442					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GTTCCAGCCTGAGCGGTTCTT	0.522000													12	132					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178412	67178412	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:67178412G>T	ENST00000269081.4	-	23	3560	c.2651C>A	c.(2650-2652)gCg>gAg	p.A884E	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	884					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTATTACACGCAACAGAAAA	0.289000													7	33					0.00198382	0.00206982	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50728917	50728917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:50728917C>A	ENST00000449103.1	-	3	237	c.97G>T	c.(97-99)Gag>Tag	p.E33*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.E33*			O15031	PLXB2_HUMAN	plexin B2	33	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGTTCAGCTCTTTCTCGCTG	0.657000													8	22					0.000442599	0.000471323	1	1	0
DNAJC2	27000	broad.mit.edu	37	7	102962386	102962386	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:102962386G>A	ENST00000379263.3	-	10	1326	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.S359L	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	359					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TACCTTGCATGAGTTTCGAAG	0.358000													11	119					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761299	55761299	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:55761299A>G	ENST00000278409.1	-	1	802	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTCCTGATTCAGGGAGTAGCT	0.468000													15	99					0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35592775	35592775	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:35592775G>A	ENST00000557565.1	+	2	705	c.324G>A	c.(322-324)gtG>gtA	p.V108V	KIAA0391_ENST00000250377.7_Silent_p.V13V|KIAA0391_ENST00000534898.4_Silent_p.V108V|KIAA0391_ENST00000321130.10_Silent_p.V108V|KIAA0391_ENST00000604948.1_Silent_p.V13V|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.V108V			O15091	MRRP3_HUMAN	KIAA0391	108					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TGGCACCTGTGAGGAACACTA	0.388000													8	83					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408401	215408401	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:215408401C>A	ENST00000444842.2	+	7	1344	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	KCNK2_ENST00000391894.2_Silent_p.P383P|KCNK2_ENST00000391895.2_Silent_p.P394P	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	398	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTTGCCTCCCTTACTGAAGA	0.493000													15	91					0.000219431	0.00023717	1	1	0
NFE2	4778	broad.mit.edu	37	12	54686353	54686353	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:54686353G>A	ENST00000540264.2	-	2	1436	c.927C>T	c.(925-927)ctC>ctT	p.L309L	NFE2_ENST00000435572.2_Silent_p.L309L|NFE2_ENST00000312156.4_Silent_p.L309L|NFE2_ENST00000553070.1_Silent_p.L309L|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	309	Leucine-zipper.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CGCGGGCCCTGAGAAGCCGCT	0.617000													6	75					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688594	23688594	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:23688594G>A	ENST00000314011.4	-	4	1417	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.F427F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCTGGGTGAAACCTTTCC	0.483000													17	124					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124157861	124157861	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr3:124157861G>A	ENST00000360013.3	+	18	3296	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K	KALRN_ENST00000460856.1_Missense_Mutation_p.E1048K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1057K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1057					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAACATTTGGAACAAAAGGA	0.512000													7	45					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27597003	27597003	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:27597003C>T	ENST00000233575.2	+	6	706	c.484C>T	c.(484-486)Cta>Tta	p.L162L	SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Silent_p.L137L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	162	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACTTTAGTCTATTCTTAGT	0.458000													10	115					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200443	31200443	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:31200443G>A	ENST00000568685.1	+	9	899	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	FUS_ENST00000254108.7_Splice_Site|FUS_ENST00000380244.3_Splice_Site|FUS_ENST00000474990.1_Splice_Site			P35637	FUS_HUMAN	fused in sarcoma	278					cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TCAACAAGCAGAACAGGATAA	0.368000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								23	189					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913794	44913794	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:44913794C>A	ENST00000429094.2	-	19	2898	c.2394G>T	c.(2392-2394)caG>caT	p.Q798H	NELL2_ENST00000395487.2_Missense_Mutation_p.Q797H|NELL2_ENST00000549027.1_Missense_Mutation_p.Q797H|NELL2_ENST00000333837.4_Missense_Mutation_p.Q821H|NELL2_ENST00000452445.2_Missense_Mutation_p.Q798H|NELL2_ENST00000437801.2_Missense_Mutation_p.Q848H|NELL2_ENST00000551601.1_Missense_Mutation_p.Q750H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	798	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTACCTTGCACTGGCAGAGAG	0.463000													8	66					0.0381472	0.0385746	1	1	0
KATNB1	10300	broad.mit.edu	37	16	57789824	57789824	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:57789824G>A	ENST00000379661.3	+	17	2030	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	546	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TCGTCAACCAGAAAGCGTAAG	0.632000													4	51					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932687	44932687	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:44932687C>A	ENST00000291187.4	-	6	2573	c.2251G>T	c.(2251-2253)Ggt>Tgt	p.G751C	ZNF229_ENST00000588931.1_Missense_Mutation_p.G757C|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGATGACCTTGAAGATGT	0.512000													6	78					0.0215528	0.021917	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610212	10610212	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:10610212G>A	ENST00000171111.5	-	2	1045	c.498C>T	c.(496-498)agC>agT	p.S166S	KEAP1_ENST00000393623.2_Silent_p.S166S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	166					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)			CACGGACAACGCTGTCGATCT	0.582000													20	82					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240977	60240977	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr13:60240977T>C	ENST00000400324.4	-	28	3543	c.3323A>G	c.(3322-3324)aAt>aGt	p.N1108S	DIAPH3_ENST00000400330.1_Missense_Mutation_p.N1108S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.N1038S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.N1097S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N1062S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1108					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CACTTTCTGATTTTCTACAGT	0.343000													7	72					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81952072	81952072	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:81952072C>G	ENST00000336735.4	-	18	1933	c.1817G>C	c.(1816-1818)gGt>gCt	p.G606A		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	606	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTCATTCTCACCTACAATGCT	0.398000													14	137					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136720	40136720	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:40136720A>G	ENST00000278198.2	-	2	3086	c.1123T>C	c.(1123-1125)Tgt>Cgt	p.C375R	LRRC4C_ENST00000527150.1_Missense_Mutation_p.C375R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.C375R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.C375R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	375	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGGCCCGACATTTCAGCTCA	0.517000													14	133					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120673542	120673542	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr11:120673542A>T	ENST00000527524.2	+	4	510	c.223A>T	c.(223-225)Agc>Tgc	p.S75C	GRIK4_ENST00000438375.2_Missense_Mutation_p.S75C			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	75					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCTCAGAGACAGCGAGTACGA	0.587000											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	82					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154185581	154185581	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:154185581G>A	ENST00000336314.4	+	15	2480	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	896							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATCGTAGGCGCTGCCTTAAT	0.517000													8	107					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698467	111698467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chrX:111698467C>T	ENST00000340433.2	+	1	741	c.511C>T	c.(511-513)Caa>Taa	p.Q171*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	171							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCCTCGCTCAAAATCTGAT	0.443000													21	64					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018419	161018419	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:161018419C>T	ENST00000368013.3	-	12	2712	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E621K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	798	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTTTGTCCTCATCCTCTCTG	0.522000													18	279					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61113211	61113211	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr14:61113211G>A	ENST00000247182.6	-	2	917	c.645C>T	c.(643-645)agC>agT	p.S215S	SIX1_ENST00000554986.1_Silent_p.S42S	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	215					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCTCTTCTGAGCTGGACATGA	0.527000													12	82					0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145747191	145747191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:145747191C>T	ENST00000344770.2	+	2	221	c.148C>T	c.(148-150)Caa>Taa	p.Q50*	PDZK1_ENST00000417171.1_Nonsense_Mutation_p.Q50*|PDZK1_ENST00000451928.2_Nonsense_Mutation_p.Q50*	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	50	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCTGGCCTTCAAGATGGAGA	0.498000													18	177					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74361118	74361118	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr4:74361118C>A	ENST00000226355.3	+	9	1253	c.1160C>A	c.(1159-1161)aCa>aAa	p.T387K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	387	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCAACACAGAAAACCCT	0.358000													10	81					1.58986e-06	1.85741e-06	1	1	0
MAP3K1	4214	broad.mit.edu	37	5	56177500	56177500	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:56177500A>G	ENST00000399503.3	+	14	2473	c.2473A>G	c.(2473-2475)Aga>Gga	p.R825G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	825					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.R825*(1)|p.R662*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAGTTCTGCAAGAATGGTTAC	0.443000													16	97					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117519	3117519	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:3117519C>T	ENST00000534507.1	+	3	368	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	IL32_ENST00000549213.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.P53S|IL32_ENST00000551513.1_Missense_Mutation_p.P53S|IL32_ENST00000548246.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.P53S|IL32_ENST00000008180.9_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000552936.1_Missense_Mutation_p.P31S|IL32_ENST00000552664.1_Intron|IL32_ENST00000552356.1_Intron			P24001	IL32_HUMAN	interleukin 32	53					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGACAAGGATCCGGCCCTTTG	0.552000													19	188					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54661256	54661256	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:54661256C>T	ENST00000419823.2	-	2	258	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CYB5RL_ENST00000542737.1_Missense_Mutation_p.E12K|CYB5RL_ENST00000534324.1_Missense_Mutation_p.E12K|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.E12K|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000537208.1_Missense_Mutation_p.E12K|CYB5RL_ENST00000287899.8_Missense_Mutation_p.E12K|CYB5RL_ENST00000401046.3_5'UTR|CYB5RL_ENST00000497820.1_Missense_Mutation_p.E12K	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	12							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGGCTTCCTCAGTGTCGTCG	0.582000													20	149					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612333	158612333	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:158612333C>A	ENST00000368148.3	-	33	4786		c.e33-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTATTTCCTCTGAAGGGAAA	0.383000													12	57					7.03913e-09	8.70248e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9075313	9075313	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:9075313T>A	ENST00000397910.4	-	3	12336	c.12133A>T	c.(12133-12135)Aag>Tag	p.K4045*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4047	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						CTAGGCCCCTTGGTGATCGCA	0.498000													9	180					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284749	223284749	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:223284749G>A	ENST00000540964.1	-	4	2086	c.1625C>T	c.(1624-1626)tCt>tTt	p.S542F	TLR5_ENST00000342210.6_Missense_Mutation_p.S542F			O60602	TLR5_HUMAN	toll-like receptor 5	542			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)		ATCATTGTGAGAAAGAACTGT	0.413000													15	121					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65890174	65890174	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr17:65890174G>C	ENST00000321892.4	+	9	2875	c.2814G>C	c.(2812-2814)caG>caC	p.Q938H	BPTF_ENST00000306378.6_Missense_Mutation_p.Q812H|BPTF_ENST00000424123.3_Missense_Mutation_p.Q799H|BPTF_ENST00000335221.5_Missense_Mutation_p.Q938H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	938					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGCAGTTCAGATGTGTAGCA	0.378000													24	145					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742830	71742830	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:71742830G>A	ENST00000258104.3	+	7	1018	c.741G>A	c.(739-741)ggG>ggA	p.G247G	DYSF_ENST00000413539.2_Silent_p.G278G|DYSF_ENST00000410041.1_Silent_p.G279G|DYSF_ENST00000409582.3_Silent_p.G278G|DYSF_ENST00000394120.2_Silent_p.G248G|DYSF_ENST00000410020.3_Silent_p.G279G|DYSF_ENST00000409744.1_Silent_p.G248G|DYSF_ENST00000409762.1_Silent_p.G278G|DYSF_ENST00000409651.1_Silent_p.G279G|DYSF_ENST00000409366.1_Silent_p.G248G|DYSF_ENST00000429174.2_Silent_p.G247G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	247	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCTGCAGGGCAGACCAAGC	0.597000													13	135					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149506172	149506172	+	RNA	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:149506172C>A	ENST00000378016.2	+	0	9164							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTCCGTGCCCTGTGGTGGT	0.692000													3	14					0.004672	0.00481883	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27099437	27099437	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:27099437C>G	ENST00000324856.7	+	14	4045	c.3674C>G	c.(3673-3675)tCc>tGc	p.S1225C	ARID1A_ENST00000457599.2_Missense_Mutation_p.S1225C|ARID1A_ENST00000374152.2_Missense_Mutation_p.S842C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1225					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1220fs*9(1)|p.M1220fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGCGCATGTCCTATGAGCCA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	81					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85766470	85766470	+	Silent	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:85766470C>T	ENST00000306434.3	+	1	183	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	20					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CATTCCTTTTCACCTCAGAGT	0.647000													3	20					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045212	7045212	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:7045212C>G	ENST00000356654.4	+	5	1019	c.782C>G	c.(781-783)tCa>tGa	p.S261*	ATN1_ENST00000396684.2_Nonsense_Mutation_p.S261*	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	261					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACTCCCATTTCAGTATCAAGC	0.617000													8	69					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39750797	39750797	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:39750797C>T	ENST00000564288.1	+	12	1951	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	MACF1_ENST00000567887.1_Missense_Mutation_p.H429Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H397Y|MACF1_ENST00000372915.3_Missense_Mutation_p.H397Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H397Y|MACF1_ENST00000361689.2_Missense_Mutation_p.H397Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H397Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	397					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAAGGTTATCACCCTAATGA	0.478000													15	150					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173703376	173703376	+	Missense_Mutation	SNP	G	G	T	rs146893194		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:173703376G>T	ENST00000209884.4	+	3	684	c.548G>T	c.(547-549)cGt>cTt	p.R183L	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	183	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CATTCATGTCGTGAGTTGCTA	0.448000													10	97					7.48243e-07	8.76999e-07	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711600	155711600	+	Silent	SNP	C	C	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:155711600C>A	ENST00000295101.2	+	3	1758	c.1281C>A	c.(1279-1281)gcC>gcA	p.A427A		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	427					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGAAAAAGCCTACAGCTTGG	0.388000													15	123					2.23348e-06	2.58426e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141771218	141771218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:141771218G>A	ENST00000389484.3	-	14	3258	c.2287C>T	c.(2287-2289)Caa>Taa	p.Q763*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	763					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAATCTAGTTGAAAAATGGAA	0.403000										TSP Lung(27;0.18)			7	81					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21914232	21914232	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr18:21914232T>C	ENST00000319481.3	-	6	663	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	153					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCTGTTGTTTTGCCTTCTCTT	0.353000													6	56					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86386710	86386710	+	Silent	SNP	T	T	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:86386710T>C	ENST00000410111.3	-	9	1368	c.981A>G	c.(979-981)gcA>gcG	p.A327A	IMMT_ENST00000442664.2_Silent_p.A326A|IMMT_ENST00000409051.2_Silent_p.A280A|IMMT_ENST00000449247.2_Silent_p.A316A|IMMT_ENST00000254636.5_Silent_p.A228A|IMMT_ENST00000490238.1_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	327						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTTACCCTCTGCAGCAGTTA	0.338000													4	38					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679645	73679645	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:73679645G>C	ENST00000264448.6	+	8	6099	c.5988G>C	c.(5986-5988)aaG>aaC	p.K1996N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1996	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAACTCAAGATTTCAACTG	0.413000													26	180					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460874	98460874	+	Silent	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:98460874G>A	ENST00000339375.4	-	2	409	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000546258.1_Silent_p.L60L|TMEM130_ENST00000416379.2_Silent_p.L79L	NM_001134450.1|NM_152913.2	NP_001127922.1|NP_690877.1	Q8N3G9	TM130_HUMAN	transmembrane protein 130	79						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTAAGCACCAGCGGGGTGTGG	0.662000													7	65					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32907006	32907006	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:32907006C>G	ENST00000324868.8	-	2	820	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	265					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CCAAATACATCTTCTCCAGTC	0.423000													19	171					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	637772	637772	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr5:637772G>A	ENST00000264935.5	+	7	1135	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	349					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTCGGACCAGGAGGGTTTGGG	0.587000													8	61					0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145747081	145747081	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:145747081C>T	ENST00000344770.2	+	2	111	c.38C>T	c.(37-39)tCc>tTc	p.S13F	PDZK1_ENST00000417171.1_Missense_Mutation_p.S13F|PDZK1_ENST00000451928.2_Missense_Mutation_p.S13F	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	13	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGTAAACTGTCCAAGCAAGAA	0.453000													18	223					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49485105	49485105	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr12:49485105C>T	ENST00000266991.2	-	2	677	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	124					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CTCAGTCACTCGTAGGCGCAC	0.607000													10	97					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603254	37603254	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr22:37603254C>G	ENST00000328544.3	-	2	1122	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.E197Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	197					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCCGCCGGCTCGGGCCACTGC	0.692000													24	31					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37520348	37520348	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:37520348C>G	ENST00000379066.1	-	3	1117	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	PRKD3_ENST00000234179.2_Missense_Mutation_p.E119Q			O94806	KPCD3_HUMAN	protein kinase D3	119					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAAATGTTTTCTGAGTTCATG	0.398000													15	85					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177851	223177851	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr1:223177851G>C	ENST00000284476.6	+	8	3276	c.3112G>C	c.(3112-3114)Gaa>Caa	p.E1038Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1038					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAATGTGTTGGAATCTGTCAC	0.498000													27	251					0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85626264	85626264	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr2:85626264delT	ENST00000263867.4	-	6	910	c.661delA	c.(661-663)tcfs	p.I221fs	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Intron|CAPG_ENST00000409670.1_Frame_Shift_Del_p.I221fs|CAPG_ENST00000409724.1_Frame_Shift_Del_p.I221fs	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	221					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCAACCTGGATCATCTCAGCA	0.627													7	87	---	---	---	---					
CACNA2D1	781	broad.mit.edu	37	7	81642818	81642818	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr7:81642818delA	ENST00000356860.3	-	14	1569	c.1231delT	c.(1231-1233)atfs	p.Y411fs	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.Y411fs|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000454066.1_RNA	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	411	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGAATTTCATAATAATAACCT	0.199													2	4	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2044163	2044164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr8:2044163_2044164insA	ENST00000262113.4	+	18	2343_2344	c.2202_2203insA	c.(2200-2205)ccaattfs	p.I735fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.I160fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	735	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGAAGGTCCCGAAATTCAGTGG	0.569													24	145	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													7	12	---	---	---	---					
AC009878.2	0	broad.mit.edu	37	15	26654871	26654871	+	RNA	DEL	A	A	-	rs113031284		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr15:26654871delA	ENST00000451579.1	+	0	173																											acttcatctcaaaaaaaaaaa	0.458													5	2	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													7	265	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-			TCGA-MP-A4TI-01A-21D-A24P-08	TCGA-MP-A4TI-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2165c123-4e80-429f-9f6e-1923a6edf401	b0132d6c-ad42-469d-bfe1-0dee7f60c11a	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378													2	4	---	---	---	---