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
FLG	2312	broad.mit.edu	37	1	152280065	152280065	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:152280065T>C	uc001ezu.1	-	2	7333	c.7297A>G	c.(7297-7299)Acc>Gcc	p.T2433A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2433	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)			CCAGTGCTGGTCCCGGTCCGT	0.597									Ichthyosis			
HMCN1	83872	broad.mit.edu	37	1	186057366	186057366	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:186057366C>T	uc001grq.1	+	61	9764	c.9535C>T	c.(9535-9537)Cca>Tca	p.P3179S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3179	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGGGATCCCACCTCCCAC	0.438												
PTEN	5728	broad.mit.edu	37	10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:89711900G>A	uc001kfb.3	+	5	1550	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:103342623C>T	uc001ktg.1	-	5	1857	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)				
C10orf96	374355	broad.mit.edu	37	10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:118084588G>A	uc001lck.3	+	1	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	22								p.R22H(2)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GAGAGTCGCCGTTTGATGCGA	0.557												
LPXN	9404	broad.mit.edu	37	11	58318640	58318640	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:58318640C>T	uc001nmw.3	-	4	529	c.384G>A	c.(382-384)ctG>ctA	p.L128L	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.L133L|LPXN_uc010rkk.2_Silent_p.L108L|LPXN_uc010rkl.2_Non-coding_Transcript	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	128					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCATTGAGTCCAGGGAGGCCT	0.557												
AHNAK	79026	broad.mit.edu	37	11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:62296010A>G	uc001ntl.3	-	4	6179	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1960					nervous system development	nucleus	protein binding	p.V1960A(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACATCAGGCACCTCCACACC	0.507												
C11orf65	160140	broad.mit.edu	37	11	108302505	108302505	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:108302505G>A	uc001pkh.3	-	2	212	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299												
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498												
ZBTB39	9880	broad.mit.edu	37	12	57396726	57396726	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:57396726A>G	uc001sml.2	-	1	2129	c.1976T>C	c.(1975-1977)cTc>cCc	p.L659P	ZBTB39_uc021qzg.1_Missense_Mutation_p.L659P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCGGTACATGAGGGCCCCCGA	0.557												
CUX2	23316	broad.mit.edu	37	12	111748209	111748209	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:111748209C>T	uc001tsa.2	+	14	1777	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	541						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGGTGGGGGCGGAGCGGCGG	0.721												
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572												
NID2	22795	broad.mit.edu	37	14	52507433	52507433	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:52507433G>A	uc001wzo.3	-	7	2196	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	NID2_uc010tqs.2_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.3_Silent_p.Y654Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	654	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCTGAGACGTAAGGCACCT	0.498												
RBM25	58517	broad.mit.edu	37	14	73578303	73578303	+	Silent	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:73578303T>C	uc010ttu.2	+	16	2361	c.2085T>C	c.(2083-2085)ttT>ttC	p.F695F	RBM25_uc001xno.3_Silent_p.F695F|RBM25_uc001xnp.3_Silent_p.F490F	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	695					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAGTGTCTTTAACAAATTTG	0.403												
ADAM10	102	broad.mit.edu	37	15	58904096	58904096	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:58904096A>C	uc002afd.1	-	11	2050	c.1606T>G	c.(1606-1608)Tgt>Ggt	p.C536G	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	536	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCCATTACATATTCCTTCC	0.448												
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:102515257C>T	uc002cdi.3	+	8	1901	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647												
SNX29	92017	broad.mit.edu	37	16	12220512	12220512	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:12220512G>A	uc002dby.4	+	11	1487	c.270G>A	c.(268-270)gtG>gtA	p.V90V	SNX29_uc010uyx.1_Silent_p.V117V	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	90					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGCCACTGTGGCCATGATGA	0.488												
GTF3C1	2975	broad.mit.edu	37	16	27480738	27480738	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:27480738C>T	uc002dov.2	-	31	4988	c.4948G>A	c.(4948-4950)Ggc>Agc	p.G1650S	GTF3C1_uc002dou.3_Missense_Mutation_p.G1650S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1650						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602												
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr17:39305619G>T	uc002hwb.3	-	0	436	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(4)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637												
CTAGE1	64693	broad.mit.edu	37	18	19997766	19997766	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:19997766G>A	uc002ktv.1	-	0	113	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	3						integral to membrane		p.P3P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAGAATCGGGTCTCATAC	0.507												
SERPINB3	6318	broad.mit.edu	37	18	61325755	61325755	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:61325755T>A	uc002lji.3	-	4	605	c.461A>T	c.(460-462)cAa>cTa	p.Q154L	SERPINB3_uc002ljg.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	154					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCATTCGTTTGACTTTCCAC	0.448												
OR7A5	26659	broad.mit.edu	37	19	14938368	14938368	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:14938368G>A	uc002mzw.3	-	0	909	c.686C>T	c.(685-687)tCa>tTa	p.S229L	OR7A5_uc010xoa.2_Missense_Mutation_p.S229L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CTGAGCTGATGAGATTGCATG	0.448												
HIPK4	147746	broad.mit.edu	37	19	40890043	40890043	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:40890043T>C	uc002onp.3	-	1	754	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	157	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCGAAGTCAATCACCTGTCGG	0.627												
SPTBN4	57731	broad.mit.edu	37	19	41060491	41060491	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:41060491G>A	uc002ony.3	+	23	5109	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.3_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E351K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1675					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAACTACGAGGAAAGCATCGC	0.662												
KLK13	26085	broad.mit.edu	37	19	51563780	51563780	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:51563780T>C	uc002pvn.3	-	1	192	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.Q50R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.Q50R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	50	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TAGGGCAGCCTGCCAGGGCTG	0.602												
NLRP4	147945	broad.mit.edu	37	19	56372800	56372800	+	Silent	SNP	C	C	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:56372800C>A	uc002qmd.4	+	3	2327	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	NLRP4_uc002qmf.3_Silent_p.T560T|NLRP4_uc010etf.3_Silent_p.T466T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	635							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTGCTCACCACCAGCGGGC	0.592												
LRPPRC	10128	broad.mit.edu	37	2	44203309	44203309	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:44203309G>A	uc002rtr.2	-	5	768	c.710C>T	c.(709-711)gCc>gTc	p.A237V	LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	237					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCACAAGGGCACTGAATAC	0.398												
TTN	7273	broad.mit.edu	37	2	179633437	179633437	+	Silent	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:179633437A>G	uc021vsy.1	-	37	9351	c.9126T>C	c.(9124-9126)gcT>gcC	p.A3042A	TTN_uc021vsz.1_Silent_p.A2996A|TTN_uc021vta.1_Silent_p.A2996A|TTN_uc021vtb.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3042	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTTTCCAGCCACAAAGG	0.388												
MUC4	4585	broad.mit.edu	37	3	195516052	195516052	+	Missense_Mutation	SNP	G	G	A	rs142259629	by1000genomes	TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr3:195516052G>A	uc021xjp.1	-	1	2555	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A682V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	805	Ser-rich.				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)		AGCTGTGCCCGCTGAGGTGGT	0.587												
LIN54	132660	broad.mit.edu	37	4	83905798	83905798	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:83905798G>C	uc003hnx.3	-	1	578	c.200C>G	c.(199-201)aCa>aGa	p.T67R	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	67					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTGTACACTGTGATTGGTTC	0.428												
CLCN3	1182	broad.mit.edu	37	4	170610366	170610366	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:170610366C>G	uc003ish.3	+	4	1150	c.591C>G	c.(589-591)atC>atG	p.I197M	CLCN3_uc003isi.3_Missense_Mutation_p.I197M|CLCN3_uc011cka.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.2_Missense_Mutation_p.I180M|CLCN3_uc003isj.2_Missense_Mutation_p.I170M	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	197					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAGAATTAATCATAGGTCAAG	0.353												
LRRC16A	55604	broad.mit.edu	37	6	25606465	25606465	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr6:25606465G>A	uc011djw.2	+	34	4179	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I	LRRC16A_uc010jpy.3_Missense_Mutation_p.V1265I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1271					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACGGCCCGTCATCCCGCA	0.607												
CHN2	1124	broad.mit.edu	37	7	29407575	29407575	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:29407575G>A	uc003szz.3	+	2	553	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CHN2_uc011jzs.2_Missense_Mutation_p.R114H|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R52H|CHN2_uc010kvd.3_Missense_Mutation_p.R39H|CHN2_uc011jzu.2_Missense_Mutation_p.R24H	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R39C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCACCTCGTCCCAAGAGA	0.413												
SAMD9	54809	broad.mit.edu	37	7	92731863	92731863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:92731863G>A	uc003umf.3	-	2	3818	c.3548C>T	c.(3547-3549)cCg>cTg	p.P1183L	SAMD9_uc003umg.3_Missense_Mutation_p.P1183L|SAMD9_uc022ahg.1_Missense_Mutation_p.P1183L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1183						cytoplasm		p.P1183Q(2)|p.P1183P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGACTTCGGATACAATCT	0.378												
BEND2	139105	broad.mit.edu	37	X	18195711	18195711	+	Silent	SNP	C	C	T	rs150572716		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:18195711C>T	uc004cyj.4	-	9	1762	c.1608G>A	c.(1606-1608)ccG>ccA	p.P536P	BEND2_uc010nfb.2_Silent_p.P445P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	536	BEN 1.							p.P536Q(2)|p.P536P(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATTTTGTTCGGGTCGAGGG	0.388												
YY2	404281	broad.mit.edu	37	X	21875351	21875351	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:21875351C>T	uc011mjp.2	+	0	1247	c.749C>T	c.(748-750)cCt>cTt	p.P250L	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	250	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAAGGAGAACCTCCCAAAACA	0.502												
