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
PLEKHO1	51177	broad.mit.edu	37	1	150131552	150131552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:150131552C>T	uc001ett.3	+	5	1342	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	PLEKHO1_uc001ets.3_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.3_Missense_Mutation_p.T183M|PLEKHO1_uc021oyc.1_Missense_Mutation_p.T172M	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	355	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTGGAGACGGAACGGCTG	0.607												
TCHH	7062	broad.mit.edu	37	1	152083688	152083688	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:152083688C>G	uc009wne.1	-	2	2277	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q	TCHH_uc001ezp.2_Missense_Mutation_p.E669Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	669	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGCTGCTCGAGCCTCTCT	0.662												
NUP210L	91181	broad.mit.edu	37	1	154110601	154110601	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:154110601C>A	uc001fdw.3	-	5	903	c.831G>T	c.(829-831)atG>atT	p.M277I	NUP210L_uc009woq.3_5'Flank|NUP210L_uc010peh.2_Missense_Mutation_p.M277I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	277						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCCCTTGAACCATTTTTGCAA	0.343												
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158626393G>C	uc001fst.1	-	19	3058	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	953					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	p.D953E(2)		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)					CTTTCATACTGTCTCCAAATG	0.413												
SPTA1	6708	broad.mit.edu	37	1	158632602	158632602	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158632602C>T	uc001fst.1	-	16	2553	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	785					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)					CTTCTTCTTTCGGGTGGCCAG	0.478												
LAMB3	3914	broad.mit.edu	37	1	209804029	209804029	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:209804029G>A	uc001hhg.3	-	7	1264	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	LAMB3_uc009xco.3_Missense_Mutation_p.R292C|LAMB3_uc001hhh.3_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	292	Laminin EGF-like 1.		R -> L (in dbSNP:rs12091253).		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCACAGCGCTCACAATTT	0.597												
SIPA1L2	57568	broad.mit.edu	37	1	232615447	232615447	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:232615447T>C	uc001hvg.3	-	4	2169	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	671	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTATGTGGTATAGAGAGAG	0.448												
KIAA1804	84451	broad.mit.edu	37	1	233515030	233515030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:233515030C>T	uc001hvt.4	+	8	2539	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.R206*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	760					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAGAAGAAACGAGAGGGAAT	0.602												
OR2M4	26245	broad.mit.edu	37	1	248402638	248402638	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:248402638G>T	uc010pzh.2	+	0	408	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCCTCATGAATCCGAAAC	0.473												
CALML5	51806	broad.mit.edu	37	10	5540984	5540984	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:5540984C>T	uc001iic.2	-	0	550	c.418G>A	c.(418-420)Gcg>Acg	p.A140T		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	140	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCATCCTCGCGAACTCCTCG	0.701												
SLK	9748	broad.mit.edu	37	10	105752828	105752828	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:105752828A>G	uc001kxo.1	+	3	485	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	SLK_uc001kxp.1_Missense_Mutation_p.I151V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	151	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAATAAGATCATCCACAG	0.333												
IFITM1	8519	broad.mit.edu	37	11	314342	314342	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:314342G>A	uc001loy.4	+	0	352	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	58					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGCATTCGCCTACTCCGT	0.612												
SYT9	143425	broad.mit.edu	37	11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:7334771C>T	uc001mfe.3	+	2	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	215						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R215W(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398												
OR5J2	282775	broad.mit.edu	37	11	55944236	55944236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:55944236T>A	uc010rjb.2	+	0	143	c.143T>A	c.(142-144)tTa>tAa	p.L48*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGATCCTCTTAATCCAAATC	0.428												
POLA2	23649	broad.mit.edu	37	11	65048610	65048610	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:65048610C>A	uc001odj.3	+	7	1224	c.892C>A	c.(892-894)Cct>Act	p.P298T	POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.3_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	298					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTCTCTGTTTCCTGGACAGGT	0.512												
OR10G7	390265	broad.mit.edu	37	11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:123909464G>A	uc001pzq.1	-	0	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACACCAAGGTCATCAGCAT	0.532												
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:248252_248254delGAG	uc001qhw.2	+	3	1723_1725	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.700												
C3AR1	719	broad.mit.edu	37	12	8211864	8211864	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:8211864G>A	uc001qtv.1	-	1	1010	c.918C>T	c.(916-918)taC>taT	p.Y306Y	C3AR1_uc021quj.1_Silent_p.Y306Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	306					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCTCAGACTCGTAGAAGGAAT	0.438												
C12orf51	283450	broad.mit.edu	37	12	112622744	112622744	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:112622744G>A	uc021reb.1	-	60	10020	c.9624C>T	c.(9622-9624)agC>agT	p.S3208S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGCCTCCGATGCTGAGCACGG	0.627												
DDX54	79039	broad.mit.edu	37	12	113600992	113600992	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:113600992G>T	uc001tuq.4	-	15	2054	c.2026C>A	c.(2026-2028)Cgg>Agg	p.R676R	DDX54_uc001tup.3_Silent_p.R676R	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	676					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.R676L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGGTCCCGCTGCCGGGCC	0.667												
LTBP2	4053	broad.mit.edu	37	14	74991895	74991895	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991895C>G	uc001xqa.3	-	14	2849	c.2462G>C	c.(2461-2463)gGg>gCg	p.G821A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.G821R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612												
LTBP2	4053	broad.mit.edu	37	14	74991927	74991927	+	Silent	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991927C>G	uc001xqa.3	-	15	2816	c.2429_splice	c.e15-1	p.G810_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	810					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGTGGCATTCCCTGTGGAGG	0.597												
STON2	85439	broad.mit.edu	37	14	81744671	81744671	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:81744671G>C	uc010tvu.2	-	3	1182	c.984C>G	c.(982-984)atC>atG	p.I328M	STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.2_Missense_Mutation_p.I125M	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	328					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGGTTGATAGGGGAGG	0.512												
C14orf109	26175	broad.mit.edu	37	14	93651787	93651787	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:93651787T>A	uc001ybk.4	+						MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S19T|C14orf109_uc021sax.1_5'Flank	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.							integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GCTGAGTGACTCTTTAACGCT	0.502												
RLTPR	146206	broad.mit.edu	37	16	67683828	67683828	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr16:67683828C>T	uc002etn.3	+	20	2159	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.2_Missense_Mutation_p.A644V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	680										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGCCCAGGCGCAGCGCAGC	0.647												
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)		
PLXDC1	57125	broad.mit.edu	37	17	37265501	37265501	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:37265501C>T	uc002hrg.2	-	3	611	c.399_splice	c.e3+1	p.S133_splice	PLXDC1_uc002hrh.2_Splice_Site|PLXDC1_uc002hri.2_Splice_Site|PLXDC1_uc002hrj.1_Splice_Site|PLXDC1_uc002hrk.1_Splice_Site	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	133					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCACTCACCGAAGCCTGCC	0.657												
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677												
SCN4A	6329	broad.mit.edu	37	17	62036660	62036660	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:62036660C>T	uc002jds.1	-	11	2061	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	662					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTCCCTGTACGTTGGCCAGG	0.592												
PALM	5064	broad.mit.edu	37	19	746653	746653	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:746653G>A	uc002lpm.1	+	8	1197	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	335					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CGAAGACGCGGCTGAGCCCAA	0.647												
SAFB2	9667	broad.mit.edu	37	19	5587954	5587954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:5587954C>T	uc002mcd.3	-	18	2775	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	855	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGTGCTCCTCTAGCCGCTGG	0.652												
IFT172	26160	broad.mit.edu	37	2	27670769	27670769	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:27670769C>A	uc002rku.3	-	40	4500	c.4449G>T	c.(4447-4449)agG>agT	p.R1483S	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1483					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTGAAGATCCTTTTGTAGA	0.502												
CAPN13	92291	broad.mit.edu	37	2	30959413	30959413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:30959413G>T	uc021vfn.1	-	16	1710	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.Q556K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	560	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCCTCTTGGTCTAGCCGC	0.537												
FAM82A1	151393	broad.mit.edu	37	2	38202445	38202445	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:38202445T>C	uc002rqn.2	+	3	1378	c.1252T>C	c.(1252-1254)Tat>Cat	p.Y418H	FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rql.3_Missense_Mutation_p.Y240H|FAM82A1_uc021vga.1_Missense_Mutation_p.Y240H|FAM82A1_uc002rqm.3_Missense_Mutation_p.Y95H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	240						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAAGAAACATTATGCTAATAT	0.323												
SULT1C4	27233	broad.mit.edu	37	2	108999906	108999906	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:108999906A>T	uc002tea.1	+	4	928	c.555A>T	c.(553-555)ggA>ggT	p.G185G	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.G110G	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATGTGAAAGGATGGTGGGAAG	0.478												
RPRM	56475	broad.mit.edu	37	2	154334770	154334770	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:154334770C>T	uc002tyq.1	-	0	553	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	104					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CCCACGACCACCGCCTCCACC	0.637												
STAT4	6775	broad.mit.edu	37	2	192011451	192011451	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:192011451G>A	uc002usm.2	-	2	476	c.161C>T	c.(160-162)aCg>aTg	p.T54M	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.4_Missense_Mutation_p.T54M|STAT4_uc010zgl.2_Missense_Mutation_p.T54M	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	54					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAAGAATCGTTGCCATGGT	0.323												
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:204599561C>T	uc002vah.4	+	3	811	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	197					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597												
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:860425C>T	uc002wei.3	-	5	1121	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_uc010zpn.2_Missense_Mutation_p.V334M	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617												
PTPRT	11122	broad.mit.edu	37	20	41306569	41306569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:41306569G>A	uc002xkg.3	-	6	1274	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.R364*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACCTGGTCGTGTGAGGAGC	0.562												
MATN4	8785	broad.mit.edu	37	20	43927042	43927042	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43927042A>T	uc002xnn.2	-	6	1381	c.1194T>A	c.(1192-1194)ccT>ccA	p.P398P	MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	439	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGCGACCCAGAGGGAACTCGG	0.662												
MATN4	8785	broad.mit.edu	37	20	43933002	43933002	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43933002G>A	uc002xnn.2	-	2	696	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	170	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACCCCCACCGCGTAAATTTC	0.706												
MMP9	4318	broad.mit.edu	37	20	44641083	44641083	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:44641083G>A	uc002xqz.3	+	7	1211	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	398					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGTTCCTCGTGGCGGCGCA	0.662												
MIOX	55586	broad.mit.edu	37	22	50928230	50928230	+	Missense_Mutation	SNP	G	G	A	rs140377157	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr22:50928230G>A	uc003bll.1	+	9	917	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	268					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)		GACAAGCTGCGGCCCTACTAC	0.662												
SCN5A	6331	broad.mit.edu	37	3	38592026	38592026	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:38592026C>A	uc021wvo.1	-	26	5889	c.5837G>T	c.(5836-5838)gGc>gTc	p.G1946V	SCN5A_uc021wvk.1_Missense_Mutation_p.G1913V|SCN5A_uc021wvl.1_Missense_Mutation_p.G1892V|SCN5A_uc021wvm.1_Missense_Mutation_p.G1928V|SCN5A_uc021wvn.1_Missense_Mutation_p.G1945V|SCN5A_uc021wvp.1_Missense_Mutation_p.G1946V|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1758V|SCN5A_uc021wvi.1_Missense_Mutation_p.G1812V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1946					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCGATGAGGCCCTCTCGCTC	0.622												
SNRK	54861	broad.mit.edu	37	3	43381834	43381834	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:43381834A>C	uc003cms.4	+	4	1119	c.787A>C	c.(787-789)Att>Ctt	p.I263L	SNRK_uc003cmt.4_Missense_Mutation_p.I263L|SNRK_uc010hik.3_Missense_Mutation_p.I263L|SNRK_uc011azr.2_Missense_Mutation_p.I57L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	263	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTTAGAAGAGATTGAAAATCA	0.443												
LETM1	3954	broad.mit.edu	37	4	1818642	1818642	+	Splice_Site	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1818642C>T	uc003gdv.3	-	12	2041	c.1744_splice	c.e12-1	p.D582_splice		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	582					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAAGTCCTAATAAAATT	0.408												
WHSC1	7468	broad.mit.edu	37	4	1978378	1978378	+	Silent	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1978378C>A	uc003gdz.4	+	20	3974	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	WHSC1_uc003geb.4_Silent_p.S1266S|WHSC1_uc003gec.4_Silent_p.S1266S|WHSC1_uc003ged.4_Silent_p.S1266S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.S485S|WHSC1_uc011bvh.2_Silent_p.S327S|WHSC1_uc010icf.3_Silent_p.S614S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1266					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACCACCTGTCCTGCCTGGGCC	0.657			T	IGH@	MM							
FAM193A	8603	broad.mit.edu	37	4	2692666	2692667	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:2692666_2692667delCA	uc010ick.3	+	13	2500_2501	c.2499_2500delCA	c.(2497-2502)ttcagafs	p.F833fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.F633fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	633										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						ACAGCCAGTTCAGAGTGTCATC	0.530												
USP46	64854	broad.mit.edu	37	4	53468067	53468067	+	Silent	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:53468067C>G	uc003gzn.3	-	6	1061	c.876G>C	c.(874-876)ctG>ctC	p.L292L	USP46_uc003gzm.4_Silent_p.L285L|USP46_uc011bzr.2_Silent_p.L269L|USP46_uc011bzs.2_Silent_p.L176L	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	292					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACATGCGGTCCAGGTTCACTG	0.537												
C4orf40	401137	broad.mit.edu	37	4	71024299	71024299	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:71024299G>A	uc003hfa.4	+	3	403	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_uc003hfb.4_Silent_p.P110P	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	110						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532												
PRDM5	11107	broad.mit.edu	37	4	121720881	121720884	+	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs34666716	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:121720881_121720884delCAAT	uc003idn.3	-	8	1212_1215	c.962_965delATTG	c.(961-966)gattgtfs	p.D321fs	PRDM5_uc003ido.3_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.3_Frame_Shift_Del_p.D290fs	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	321					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.D321Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTGACAATCAAATATCTC	0.309												
GPR98	84059	broad.mit.edu	37	5	89981612	89981612	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:89981612G>A	uc003kju.3	+	28	6386	c.6290G>A	c.(6289-6291)cGt>cAt	p.R2097H	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2097			R -> C (in dbSNP:rs16868974).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCTCCACGTCTTGGGCCT	0.423												
ADAMTS19	171019	broad.mit.edu	37	5	128957961	128957961	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:128957961C>G	uc003kvb.1	+	9	1672	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	558	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCTCCAAGCTGCCAGGGAT	0.468												
GABRA6	2559	broad.mit.edu	37	5	161116169	161116169	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:161116169C>A	uc003lyu.2	+	3	778	c.440C>A	c.(439-441)aCc>aAc	p.T147N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	147					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)	ATTTTATACACCATGAGGTGA	0.373										TCGA Ovarian(5;0.080)		
DDX41	51428	broad.mit.edu	37	5	176943782	176943782	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:176943782C>G	uc003mho.3	-	1	103	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	28				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTCGTCCTCATCTTCCGCC	0.706												
GPR116	221395	broad.mit.edu	37	6	46826114	46826114	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:46826114C>T	uc003oyo.3	-	16	3815	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGGATGGCGAAAGCCAGC	0.547												
NT5E	4907	broad.mit.edu	37	6	86197137	86197137	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:86197137A>G	uc003pko.4	+	4	1590	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	NT5E_uc010kbr.3_Missense_Mutation_p.Y345C	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	345					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ACAATTGTCTATCTGGATGGC	0.393												
MDN1	23195	broad.mit.edu	37	6	90362720	90362720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:90362720delC	uc003pnn.1	-	93	15932	c.15816delG	c.(15814-15816)acgfs	p.T5272fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5272					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.T5272A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGAAGATCGTGTCCATGA	0.338												
MAP3K7	6885	broad.mit.edu	37	6	91281453	91281453	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:91281453A>G	uc003pnz.1	-	1	499	c.194T>C	c.(193-195)aTa>aCa	p.I65T	MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	65	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACTTTCTATTTGTTTAAT	0.338												
SLC16A10	117247	broad.mit.edu	37	6	111498841	111498841	+	Silent	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:111498841T>C	uc003pus.3	+	2	1090	c.915T>C	c.(913-915)ttT>ttC	p.F305F	SLC16A10_uc003pur.4_Silent_p.F305F|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	305					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTGCACTTTTTGGATACTTTG	0.363												
RSPH4A	345895	broad.mit.edu	37	6	116938051	116938051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:116938051G>T	uc003pxe.2	+	0	410	c.265G>T	c.(265-267)Gag>Tag	p.E89*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	89					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCGCGGGAGCCCTCTTC	0.647									Kartagener syndrome			
RFX6	222546	broad.mit.edu	37	6	117244279	117244279	+	Missense_Mutation	SNP	C	C	A	rs144863251		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:117244279C>A	uc003pxm.3	+	13	1510	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	483					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.Q483K(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCAAACAAAATGGAAG	0.363												
CNKSR3	154043	broad.mit.edu	37	6	154743668	154743668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:154743668delT	uc021zhc.1	-	8	1422	c.917delA	c.(916-918)aacfs	p.N306fs	CNKSR3_uc003qpy.3_Frame_Shift_Del_p.N306fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	306					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCACCGTAGGTTTTTCAGGGG	0.448												
DLL1	28514	broad.mit.edu	37	6	170599203	170599203	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:170599203G>A	uc003qxm.3	-	0	495	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	9					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCACCGCCAGGGCCAGCGCG	0.761												
HOXA6	3203	broad.mit.edu	37	7	27186942	27186942	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:27186942T>G	uc003syo.2	-	0	452	c.427A>C	c.(427-429)Atg>Ctg	p.M143L	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.S9A	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CAGGAGTTCATCCGCTGCATC	0.562												
NME8	51314	broad.mit.edu	37	7	37903981	37903981	+	Silent	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:37903981G>C	uc003tfn.3	+	8	858	c.486G>C	c.(484-486)ccG>ccC	p.P162P		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	162	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTATCAAACCGGATGCTGTGA	0.284												
ABCB1	5243	broad.mit.edu	37	7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	rs142600685	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:87179256G>A	uc003uiz.2	-	13	1958	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_uc011khc.2_Missense_Mutation_p.R425C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	489	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CGGCCATAGCGAATGTTTTCA	0.428												
MCM7	4176	broad.mit.edu	37	7	99693696	99693696	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:99693696C>T	uc003usw.1	-	10	1806	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	432	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCACCAGGGCCCCACCCTCTA	0.612												
MUC17	140453	broad.mit.edu	37	7	100681846	100681846	+	Silent	SNP	C	C	T	rs138267850		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:100681846C>T	uc003uxp.1	+	2	7202	c.7149C>T	c.(7147-7149)gaC>gaT	p.D2383D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2383	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A2382V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTGACGATACTAGCA	0.498												
PIK3CG	5294	broad.mit.edu	37	7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:106508257C>T	uc003vdv.4	+	1	336	c.251C>T	c.(250-252)gCg>gTg	p.A84V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	84					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCAGCGTGGCGGCGGACTTC	0.637												
EBF2	64641	broad.mit.edu	37	8	25766052	25766052	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr8:25766052G>T	uc003xes.2	-	6	836	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	191					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363												
TMC1	117531	broad.mit.edu	37	9	75441788	75441789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:75441788_75441789insA	uc004aiz.1	+	20	2547_2548	c.2007_2008insA	c.(2005-2010)ggcaaafs	p.G669fs	TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	669					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCCCAGTGGCAAAAATAGAAT	0.411												
ACTL7B	10880	broad.mit.edu	37	9	111618206	111618206	+	Missense_Mutation	SNP	G	G	A	rs139165156		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:111618206G>A	uc004bdi.3	-	0	70	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	2						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTCCTTGTCGCCATCTGCCT	0.667												
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:137620520C>T	uc004cfe.3	+	5	1173	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612												
EIF1AX	1964	broad.mit.edu	37	X	20148634	20148634	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:20148634G>A	uc004czt.3	-	6	637	c.429_splice	c.e6+1	p.D143_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	143						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCTACTTACGTCATCAATAT	0.338												
ZNF674	641339	broad.mit.edu	37	X	46359485	46359485	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:46359485G>T	uc004dgr.3	-	5	1766	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	ZNF674_uc011mlg.2_Silent_p.I507I|ZNF674_uc022bvl.1_Silent_p.I508I	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398												
LOC100133957	100133957	broad.mit.edu	37	X	47518408	47518408	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:47518408C>T	uc011mlt.1	+	0	157	c.84C>T	c.(82-84)ctC>ctT	p.L28L	UXT_uc022bvp.1_Intron|UXT_uc004din.3_Intron|UXT_uc004dim.3_5'UTR|LOC100133957_uc011mls.1_Silent_p.L28L					Homo sapiens uncharacterized LOC100133957 (LOC100133957), non-coding RNA.																		TCTCTACCCTCTCAACGCTGG	0.642												
ACRC	93953	broad.mit.edu	37	X	70830591	70830591	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:70830591A>G	uc004eae.2	+	10	2173	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	558						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGGCTTATGCAGCACTGGTGA	0.493												
RPS4X	6191	broad.mit.edu	37	X	71492579	71492579	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:71492579C>T	uc004ear.3	-	6	830	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	245					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					AATGGTGAGGCGGATACCCTT	0.488												
COL4A6	1288	broad.mit.edu	37	X	107407829	107407829	+	Splice_Site	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:107407829C>A	uc004enw.4	-	40	4175	c.4072_splice	c.e40+1	p.G1358_splice	COL4A6_uc004env.4_Splice_Site_p.G1357_splice|COL4A6_uc011msn.2_Splice_Site_p.G1333_splice|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1358	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTCAACTTACCTCTTGGCCC	0.592									Alport syndrome with Diffuse Leiomyomatosis			
MAGEC2	51438	broad.mit.edu	37	X	141291591	141291591	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:141291591C>T	uc022cfj.1	-	0	183	c.183G>A	c.(181-183)ctG>ctA	p.L61L	MAGEC2_uc004fbu.2_Silent_p.L61L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	61						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532										HNSCC(46;0.14)		
