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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRDM2	7799	broad.mit.edu	37	1	14107311	14107311	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:14107311C>T	uc001avi.2	+	8	3877	c.3021C>T	c.(3019-3021)TGC>TGT	p.C1007C	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.C1007C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.C806C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1007	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACACCCATGCCCCTCTCCAC	0.617			NA											5	120					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19481946	19481946	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:19481946C>T	uc001bbi.2	-	43	6293	c.6289G>A	c.(6289-6291)GAG>AAG	p.E2097K	UBR4_uc001bbl.1_Missense_Mutation_p.E34K|UBR4_uc001bbm.1_Missense_Mutation_p.E1308K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2097					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCAGGTCCTCATGATTGATT	0.398			NA											5	85					0	0	0.000602	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442055	20442055	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:20442055G>A	uc001bcz.2	-	3	254	c.237C>T	c.(235-237)TGC>TGT	p.C79C	PLA2G2D_uc009vpo.2_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID precursor	79					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAGATGCTGCACCCCTGGG	0.582	Melanoma(60;742 1548 31762 39240)		NA								Multiple Myeloma(11;0.12)			9	116					0	0	0.010729	0	0
MTF1	4520	broad.mit.edu	37	1	38288038	38288038	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:38288038A>G	uc001cce.1	-	9	1663	c.1522T>C	c.(1522-1524)TCA>CCA	p.S508P	MTF1_uc009vvj.1_Missense_Mutation_p.S199P	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	508						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCGCTGCTGATGCAGAAGCC	0.587			NA											3	43					0	0	0.004672	0	0
CLCA2	9635	broad.mit.edu	37	1	86909605	86909605	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:86909605G>A	uc001dlr.3	+	10	1786	c.1624G>A	c.(1624-1626)GAT>AAT	p.D542N		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	542	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TATATTATTTGATCCTGATGG	0.398	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)		NA											7	118					0	0	0.001984	0	0
LINGO4	339398	broad.mit.edu	37	1	151773644	151773644	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:151773644C>T	uc001ezf.1	-	2	1727	c.1537G>A	c.(1537-1539)GAC>AAC	p.D513N		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	513	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGTTGGGGTCAGAAAGTGTG	0.577			NA											18	218					0	0	0.00499	0	0
PAPPA2	60676	broad.mit.edu	37	1	176758977	176758977	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:176758977G>T	uc001gkz.2	+	18	5912	c.4748G>T	c.(4747-4749)GGA>GTA	p.G1583V	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1583	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CTGGAAGGTGGAATCTGGGAG	0.463			NA											18	27					6.94344e-10	9.28154e-10	0.006122	1	0
MARK1	4139	broad.mit.edu	37	1	220808734	220808734	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:220808734C>G	uc001hmn.3	+	12	1736	c.1139C>G	c.(1138-1140)TCG>TGG	p.S380W	MARK1_uc009xdw.2_Missense_Mutation_p.S380W|MARK1_uc010pun.1_Missense_Mutation_p.S380W|MARK1_uc001hmm.3_Missense_Mutation_p.S358W	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	380					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GGTGGTGAATCGTTATCCAGT	0.403			NA											3	58					0	0	0.004672	0	0
AKR1E2	83592	broad.mit.edu	37	10	4881968	4881968	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:4881968C>T	uc001ihi.2	+	6	745	c.630C>T	c.(628-630)TGC>TGT	p.C210C	AKR1E2_uc001ihl.1_Intron|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc009xhw.2_Intron|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						TCAGTTTTTGCCAATCCAGAG	0.433	NSCLC(43;343 1097 20371 28813 45509)		NA											4	111					0	0	0.000602	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486774	117486774	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:117486774G>T	uc001lcg.2	+	27	4198	c.3812G>T	c.(3811-3813)CGA>CTA	p.R1271L	ATRNL1_uc010qsm.1_Missense_Mutation_p.R400L|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1271	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTCGAGAACGACAGCAGATG	0.433			NA											7	48					0.000157383	0.000200167	0.00308	1	0
HSPA12A	259217	broad.mit.edu	37	10	118460544	118460544	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:118460544G>A	uc001lct.2	-	4	456	c.351C>T	c.(349-351)GCC>GCT	p.A117A	HSPA12A_uc001lcu.2_Silent_p.A34A	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	117							ATP binding			ovary(1)	1				all cancers(201;0.0158)		AGTCCCTGGCGGCATACCCGA	0.567			NA											9	82					0	0	0.004482	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443439	5443439	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:5443439G>C	uc010qzd.1	+	1	9	c.9G>C	c.(7-9)CAG>CAC	p.Q3H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGTCCCAGGTGACTAACA	0.448			NA											16	115					0	0	0.004007	0	0
OR5D13	390142	broad.mit.edu	37	11	55541387	55541387	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:55541387C>T	uc010ril.1	+	1	474	c.474C>T	c.(472-474)TCC>TCT	p.S158S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TAGTGTGCTCCCTGATACTCA	0.408			NA											20	229					0	0	0.007413	0	0
ZFP91	80829	broad.mit.edu	37	11	58381734	58381734	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:58381734G>C	uc001nmx.3	+	9	1188	c.1020G>C	c.(1018-1020)AAG>AAC	p.K340N	ZFP91_uc001nmy.3_Missense_Mutation_p.K339N|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	340	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGAAGAAGAAATATGTAT	0.398			NA											14	73					0	0	0.00245	0	0
STIP1	10963	broad.mit.edu	37	11	63965325	63965325	+	Splice_Site	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:63965325G>C	uc001nyk.1	+	8	1050	c.903_splice	c.e8-1	p.K301_splice	STIP1_uc010rnb.1_Splice_Site_p.K277_splice	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1						axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						TTCTTTATCAGAGCATATGCT	0.463			NA											5	352					0	0	0.001168	0	0
PANX1	24145	broad.mit.edu	37	11	93911638	93911638	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:93911638T>C	uc001per.2	+	3	810	c.425T>C	c.(424-426)ATC>ACC	p.I142T	PANX1_uc001peq.2_Missense_Mutation_p.I142T	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	142	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGAAGTTTATCATGGAAGAA	0.502			NA											3	92					0	0	0.004672	0	0
PYROXD1	79912	broad.mit.edu	37	12	21621467	21621467	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:21621467C>G	uc001rew.2	+	12	1409	c.1282C>G	c.(1282-1284)CAG>GAG	p.Q428E	PYROXD1_uc009ziq.2_Missense_Mutation_p.Q169E|PYROXD1_uc009zir.2_Missense_Mutation_p.Q134E	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	428							oxidoreductase activity			ovary(1)	1						ATACAATGCACAGGGCTTAGG	0.363			NA											9	59					0	0	0.008291	0	0
TFCP2	7024	broad.mit.edu	37	12	51497949	51497949	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:51497949G>C	uc001rxw.2	-	9	1414	c.955C>G	c.(955-957)CCA>GCA	p.P319A	TFCP2_uc001rxv.1_Missense_Mutation_p.P319A|TFCP2_uc009zlx.1_Missense_Mutation_p.P268A|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.P221A	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	319	Poly-Pro.|DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCTGTGACTGGAGGGGGTGGC	0.408			NA											6	59					0	0	0.00308	0	0
RPS26	6231	broad.mit.edu	37	12	56436228	56436228	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:56436228A>G	uc001sjf.2	+	2	288	c.23A>G	c.(22-24)AAT>AGT	p.N8S		NM_001029	NP_001020	P62854	RS26_HUMAN	ribosomal protein S26	8					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)	1			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGAAGGAACAATGGTCGTGCC	0.552			NA											11	53					0	0	0.013537	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497231	123497231	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:123497231T>A	uc001uej.1	-	4	483	c.344A>T	c.(343-345)TAT>TTT	p.Y115F	PITPNM2_uc001uek.1_Missense_Mutation_p.Y115F|PITPNM2_uc009zxu.1_Missense_Mutation_p.Y115F|hsa-mir-4304|MI0015832_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	115					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATCAGTTTTATAAAAGGTTTC	0.512			NA											42	211					0	0	0.011902	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215725	20215725	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:20215725G>T	uc010tkt.1	+	1	139	c.139G>T	c.(139-141)GTA>TTA	p.V47L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGATAGTGGTAACAGTGCA	0.418			NA											24	501					6.32553e-13	8.54273e-13	0.004656	1	0
RNF31	55072	broad.mit.edu	37	14	24621036	24621036	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:24621036C>T	uc001wmn.1	+	11	2214	c.1965C>T	c.(1963-1965)AGC>AGT	p.S655S	RNF31_uc001wml.1_Silent_p.S504S|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Silent_p.S414S|RNF31_uc001wmo.1_Silent_p.S122S|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	655					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		CACTCCCCAGCTGGGGCCGGG	0.617			NA											17	112					0	0	0.007413	0	0
C14orf102	55051	broad.mit.edu	37	14	90764706	90764706	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:90764706A>G	uc001xyi.1	-	8	1595	c.1564T>C	c.(1564-1566)TTT>CTT	p.F522L	C14orf102_uc010atp.1_Missense_Mutation_p.F27L|C14orf102_uc001xyj.1_Missense_Mutation_p.F291L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	522							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTGTCCCAAAAGGGTTCAAAG	0.547			NA											4	90					0	0	0.000602	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658995	43658995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:43658995G>A	uc001zrk.1	-	3	682	c.535C>T	c.(535-537)CCT>TCT	p.P179S	ZSCAN29_uc001zrj.1_Missense_Mutation_p.P59S|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P178S|ZSCAN29_uc001zrl.1_Intron|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.P178S	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCGGATTTAGGAAATGGCAAT	0.458			NA											17	58					0	0	0.00499	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917985	65917985	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:65917985G>A	uc010ujf.1	+	2	1854	c.1567G>A	c.(1567-1569)GTG>ATG	p.V523M	SLC24A1_uc010ujd.1_Missense_Mutation_p.V523M|SLC24A1_uc010uje.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujg.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujh.1_Missense_Mutation_p.V523M	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	523	Alpha-1.|Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						CCACAGCAACGTGGGCATTGG	0.547			NA											5	163					0	0	0.000602	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532838	82532838	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:82532838T>C	uc002bgt.1	-	6	606	c.437A>G	c.(436-438)AAT>AGT	p.N146S	EFTUD1_uc002bgu.1_Missense_Mutation_p.N95S	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	146	GTP (By similarity).				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						ATCAATCTTATTAATCACTAA	0.343			NA											14	26					0	0	0.00245	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064922	5064922	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:5064922C>T	uc002cye.2	+	16	2222	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	681	Ser-rich.					integral to membrane|intracellular	transporter activity				0						GCCGCCACCTCGTCCTCCTCC	0.652			NA											7	81					0	0	0.004482	0	0
ABCC1	4363	broad.mit.edu	37	16	16215937	16215937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:16215937C>T	uc010bvi.2	+	24	3671	c.3496C>T	c.(3496-3498)CGA>TGA	p.R1166*	ABCC1_uc010bvj.2_Nonsense_Mutation_p.R1107*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R1110*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R1166*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R1051*|ABCC1_uc002del.3_Nonsense_Mutation_p.R1060*	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1166	Cytoplasmic.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGCGTCATTCGAGCCTTCGA	0.612			NA											4	81					0	0	0.009096	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817457G>A	uc010vbl.1	-	7	603	c.106C>T	c.(106-108)CTG>TTG	p.L36L	uc002diq.3_Intron	NR_003370				SubName: Full=Putative uncharacterized protein ENSP00000219758;												0						CTTACATCCAGCTTGAGTAGT	0.254			NA											4	23					0	0	0.009096	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817525	21817525	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817525C>T	uc010vbl.1	-	7	535	c.38G>A	c.(37-39)AGG>AAG	p.R13K	uc002diq.3_Intron	NR_003370				SubName: Full=Putative uncharacterized protein ENSP00000219758;												0						TACACTAATCCTTAGTAAGTT	0.284			NA											3	18					0	0	0.000602	0	0
SETD6	79918	broad.mit.edu	37	16	58550737	58550737	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:58550737G>C	uc002ens.2	+	5	756	c.697G>C	c.(697-699)GAG>CAG	p.E233Q	SETD6_uc010cdl.2_Missense_Mutation_p.E233Q|SETD6_uc002enr.2_Missense_Mutation_p.E209Q|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.E157Q	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	233	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						GGAGGAAGAAGAGGATGAAAA	0.517			NA											9	210					0	0	0.006214	0	0
ZFHX3	463	broad.mit.edu	37	16	72991714	72991714	+	Silent	SNP	C	C	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:72991714C>A	uc002fck.2	-	2	3004	c.2331G>T	c.(2329-2331)GTG>GTT	p.V777V	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	777	Poly-Ala.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ccgccgcagccaccgccgccg	0.458			NA											5	51					3.59834e-05	4.66715e-05	0.001168	1	0
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:6941599T>C	uc002geh.2	+	3	780	c.472T>C	c.(472-474)TTT>CTT	p.F158L		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	158	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						ATTTGCCCCCTTTTTCCAGTG	0.652			NA											3	74					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ACACTATGTCGAAAAGTGTTT	0.532	Pancreas(47;798 1329 9957 10801)		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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)			18	16					0	0	0.008871	0	0
DNAH2	146754	broad.mit.edu	37	17	7643738	7643738	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7643738G>T	uc002giu.1	+	9	1391	c.1377G>T	c.(1375-1377)AAG>AAT	p.K459N	DNAH2_uc002git.2_Missense_Mutation_p.K541N|DNAH2_uc010vuk.1_Missense_Mutation_p.K459N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	459	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGGTGCAGGTTCCGTGCCG	0.597			NA											25	123					1.96895e-08	2.57932e-08	0.00278	1	0
MYH4	4622	broad.mit.edu	37	17	10352023	10352023	+	Silent	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:10352023G>C	uc002gmn.2	-	32	4554	c.4443C>G	c.(4441-4443)CTC>CTG	p.L1481L	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1481	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCTCAGTGCTGAGAGAACGCG	0.453			NA											7	112					0	0	0.00308	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678500	48678500	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:48678500G>A	uc002irk.1	+	19	4252	c.3880G>A	c.(3880-3882)GCC>ACC	p.A1294T	CACNA1G_uc002iri.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irj.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irl.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irm.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irn.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iro.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irp.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irq.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irr.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irs.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irt.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irv.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irw.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iru.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irx.1_Missense_Mutation_p.A1207T|CACNA1G_uc002iry.1_Missense_Mutation_p.A1207T|CACNA1G_uc002irz.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isa.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isb.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isc.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isd.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ise.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isf.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isg.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ish.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isi.1_Missense_Mutation_p.A1184T|CACNA1G_uc002isj.2_Missense_Mutation_p.A18T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1294	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCACCATCGCCATGGAGCG	0.592			NA											6	62					0	0	0.001168	0	0
ARL16	339231	broad.mit.edu	37	17	79650121	79650121	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:79650121T>C	uc002kbf.2	-	3	327	c.228A>G	c.(226-228)AGA>AGG	p.R76R	ARL16_uc002kbe.2_5'UTR|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	76							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGATCTTTCTCTGTGCCA	0.507			NA											5	213					0	0	0.000602	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367060	12367060	+	Silent	SNP	C	C	T	rs146182382		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:12367060C>T	uc002kqz.1	-	5	569	c.456G>A	c.(454-456)CTG>CTA	p.L152L		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	152	Helical; (Potential).				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	CACCCCAGAACAGAGCAGTCC	0.458			NA											16	48					0	0	0.003163	0	0
ACAA2	10449	broad.mit.edu	37	18	47322175	47322175	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:47322175C>G	uc002ldw.3	-	4	786	c.389G>C	c.(388-390)AGA>ACA	p.R130T	ACAA2_uc002ldx.3_Missense_Mutation_p.R127T	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	130					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						ACGCACATTTCTGACACAGTA	0.323			NA											7	86					0	0	0.004482	0	0
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:48591919G>A	uc010xdp.1	+	9	1620	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	SMAD4_uc002lfb.3_Missense_Mutation_p.R206H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413			NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				4	68					0	0	0.009096	0	0
RDH8	50700	broad.mit.edu	37	19	10127840	10127840	+	Missense_Mutation	SNP	G	G	C	rs144177019		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:10127840G>C	uc002mmr.2	+	2	460	c.211G>C	c.(211-213)GAG>CAG	p.E71Q		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	71					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCAGTGATGAGTCGGTGGC	0.612			NA											3	16					0	0	0.004672	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:11022906C>T	uc002mpz.2	+	5	731	c.605C>T	c.(604-606)GCC>GTC	p.A202V	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						TCGTTTTTTGCCGCCCAAGCT	0.622			NA											5	237					0	0	0.001168	0	0
F2RL3	9002	broad.mit.edu	37	19	17000388	17000388	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:17000388C>G	uc002nfa.2	+	2	289	c.114C>G	c.(112-114)AGC>AGG	p.S38R		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	38					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						TCCCAGACAGCACGCCCTCAA	0.667			NA											7	80					0	0	0.004482	0	0
BCL2L12	83596	broad.mit.edu	37	19	50170394	50170394	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:50170394C>T	uc002ppa.2	+	3	1160	c.478C>T	c.(478-480)CGC>TGC	p.R160C	IRF3_uc002pot.1_5'Flank|IRF3_uc010end.1_5'Flank|IRF3_uc002pox.1_5'Flank|IRF3_uc002poy.1_5'Flank|IRF3_uc002pou.2_5'Flank|IRF3_uc002pov.2_5'Flank|IRF3_uc002pow.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.2_Missense_Mutation_p.R159C	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	160					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TCTGCCCATCCGCCCCTGCTA	0.567			NA											11	212					0	0	0.008291	0	0
ZNF525	170958	broad.mit.edu	37	19	53885195	53885195	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:53885195A>C	uc010eqn.2	+	4	1448	c.1255A>C	c.(1255-1257)ACC>CCC	p.T419P	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	NR_003699				Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.												0						GTTATCCCTTACCTGCCATTG	0.373			NA											4	34					0	0	0.000602	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:54756736T>C	uc010yot.1	+	1	378	c.254T>C	c.(253-255)TTT>TCT	p.F85S	SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron	NR_002229				SubName: Full=Putative uncharacterized protein DKFZp547I014;												0						ACCACTGAGTTTGCCATGAAG	0.483			NA											3	83					0	0	0.004672	0	0
CD207	50489	broad.mit.edu	37	2	71060878	71060878	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:71060878G>T	uc002shg.2	-	3	511	c.464C>A	c.(463-465)CCA>CAA	p.P155Q		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	155	Potential.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TTTTAACTCTGGGATTTGGGC	0.438			NA											7	90					0.000157383	0.000200167	0.00308	1	0
CCDC93	54520	broad.mit.edu	37	2	118703137	118703137	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:118703137G>A	uc002tlj.2	-	17	1444	c.1318C>T	c.(1318-1320)CCT>TCT	p.P440S	CCDC93_uc010fld.1_Missense_Mutation_p.P440S	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	440										large_intestine(1)|ovary(1)	2						AAGGTACCAGGCGGCTCTCCA	0.512			NA											5	99					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179650412	179650412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:179650412G>A	uc010zfg.1	-	15	2652	c.2428C>T	c.(2428-2430)CGC>TGC	p.R810C	TTN_uc010zfh.1_Missense_Mutation_p.R764C|TTN_uc010zfi.1_Missense_Mutation_p.R764C|TTN_uc010zfj.1_Missense_Mutation_p.R764C|TTN_uc002unb.2_Missense_Mutation_p.R810C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	810							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGCTGTGCGGGGGCGTTTA	0.388			NA											7	153					0	0	0.001984	0	0
CPS1	1373	broad.mit.edu	37	2	211444463	211444463	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:211444463C>T	uc002vee.3	+	5	629	c.497C>T	c.(496-498)ACA>ATA	p.T166I	CPS1_uc010fur.2_Missense_Mutation_p.T172I	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	166	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAGTGGACACAAGAATGCTG	0.284			NA											7	105					0	0	0.004482	0	0
ARPC2	10109	broad.mit.edu	37	2	219103426	219103426	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:219103426C>T	uc002vhd.2	+	6	420	c.308C>T	c.(307-309)CCG>CTG	p.P103L	ARPC2_uc002vhe.2_Missense_Mutation_p.P103L|ARPC2_uc002vhf.2_5'UTR	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	103					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAAAATCTTCCGGCATCCAAG	0.373			NA											5	224					0	0	0.000602	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881884	228881884	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:228881884C>T	uc002vpq.2	-	7	3733	c.3686G>A	c.(3685-3687)CGA>CAA	p.R1229Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1229Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1229Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1229						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGGGGATCGCAGAGAAGG	0.567			NA											6	111					0	0	0.001168	0	0
C22orf29	79680	broad.mit.edu	37	22	19839740	19839740	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:19839740G>A	uc002zqg.2	-	2	644	c.45C>T	c.(43-45)ATC>ATT	p.I15I	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.I15I|C22orf29_uc002zqi.2_Silent_p.I15I|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	15											0	Colorectal(54;0.0993)					CGGCTGCCCAGATGGGAATGC	0.637			NA											27	75					0	0	0.00632	0	0
ACO2	50	broad.mit.edu	37	22	41919908	41919908	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:41919908C>T	uc003bac.2	+	12	1467	c.1445C>T	c.(1444-1446)GCA>GTA	p.A482V	ACO2_uc003bad.2_Missense_Mutation_p.A507V	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	482					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CGCAACGACGCAAACCCCGAG	0.607			NA											15	28					0	0	0.004007	0	0
PARP3	10039	broad.mit.edu	37	3	51978890	51978890	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:51978890G>C	uc003dby.2	+	5	969	c.598G>C	c.(598-600)GAG>CAG	p.E200Q	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.E207Q	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	200	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTCAGCAAGGAGATGTTCAA	0.622			NA											5	45					0	0	0.001984	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224321	172224321	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:172224321G>A	uc003fid.2	-	5	902	c.807C>T	c.(805-807)GAC>GAT	p.D269D	TNFSF10_uc003fie.2_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	269	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGCTTCATGGTCCATGTCTA	0.368			NA											4	64					0	0	0.009096	0	0
DGKG	1608	broad.mit.edu	37	3	186015218	186015218	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:186015218G>T	uc003fqa.2	-	5	902	c.365C>A	c.(364-366)CCT>CAT	p.P122H	DGKG_uc003fqb.2_Missense_Mutation_p.P122H|DGKG_uc003fqc.2_Missense_Mutation_p.P122H|DGKG_uc011brx.1_Missense_Mutation_p.P122H	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	122					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGTATCAGGGGCACAGGC	0.448			NA											14	194					9.16793e-09	1.21313e-08	0.00499	1	0
FAT4	79633	broad.mit.edu	37	4	126389827	126389827	+	Silent	SNP	C	C	T	rs144476127	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr4:126389827C>T	uc003ifj.3	+	11	12060	c.12060C>T	c.(12058-12060)GGC>GGT	p.G4020G	FAT4_uc011cgp.1_Silent_p.G2283G|FAT4_uc003ifi.1_Silent_p.G1498G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4020	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCAGACAGGCGACCGGGCTG	0.398			NA											11	69					0	0	0.013537	0	0
PRDM9	56979	broad.mit.edu	37	5	23522507	23522507	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:23522507T>C	uc003jgo.2	+	7	785	c.603T>C	c.(601-603)GAT>GAC	p.D201D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	201					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGGATGATGATTACCTCTGTA	0.443			NA								HNSCC(3;0.000094)			15	237					0	0	0.004007	0	0
CLINT1	9685	broad.mit.edu	37	5	157218721	157218721	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:157218721G>A	uc003lxj.1	-	10	1560	c.1370C>T	c.(1369-1371)TCA>TTA	p.S457L	CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_Missense_Mutation_p.S31L|CLINT1_uc003lxi.1_Missense_Mutation_p.S439L|CLINT1_uc011ddv.1_Missense_Mutation_p.S457L	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	457					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTGATCTTGACATAGGCAA	0.378	Colon(22;427 587 2170 6147 14291)		NA											7	291					0	0	0.00308	0	0
GABRA6	2559	broad.mit.edu	37	5	161117220	161117220	+	Silent	SNP	A	A	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:161117220A>T	uc003lyu.2	+	7	1025	c.687A>T	c.(685-687)ATA>ATT	p.I229I	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	229	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	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)	AATACGTTATAATGACAGTTT	0.358			NA								TCGA Ovarian(5;0.080)			7	106					0	0	0.00308	0	0
GRM6	2916	broad.mit.edu	37	5	178408745	178408745	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:178408745C>T	uc003mjr.2	-	10	2726	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	GRM6_uc003mjq.2_Silent_p.Q252Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	849	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTGCACATTCTGCTCTGGAT	0.607			NA											7	170					0	0	0.001984	0	0
TRIM39	56658	broad.mit.edu	37	6	30309601	30309601	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:30309601G>A	uc010jrz.2	+	9	1434	c.1122G>A	c.(1120-1122)AGG>AGA	p.R374R	TRIM39_uc003npz.2_Silent_p.R344R|TRIM39_uc003nqb.2_Silent_p.R344R|TRIM39_uc003nqc.2_Silent_p.R344R|TRIM39_uc010jsa.1_Silent_p.R344R	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	374	B30.2/SPRY.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						ACACACCAAGGCGTTTCACCT	0.572			NA											6	55					0	0	0.001984	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411157	32411157	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:32411157A>G	uc003obh.2	+	3	605	c.524A>G	c.(523-525)TAT>TGT	p.Y175C	HLA-DRA_uc003obi.2_Missense_Mutation_p.Y150C	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	175	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						AAGTTCCACTATCTCCCCTTC	0.547			NA							T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|KaposSarcoma_Familial_Clustering_of				13	131					0	0	0.00245	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406039	33406039	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:33406039C>T	uc011dri.1	+	8	1552	c.1357C>T	c.(1357-1359)CAC>TAC	p.H453Y	SYNGAP1_uc003oeo.1_Missense_Mutation_p.H438Y|SYNGAP1_uc010juy.2_Missense_Mutation_p.H438Y|SYNGAP1_uc010juz.2_Missense_Mutation_p.H165Y	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	453	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGCACTAGTTCACATCCTGCA	0.547			NA											21	214					0	0	0.012319	0	0
COL12A1	1303	broad.mit.edu	37	6	75801215	75801215	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:75801215T>C	uc003phs.2	-	61	8842	c.8676A>G	c.(8674-8676)AAA>AAG	p.K2892K	COL12A1_uc003pht.2_Silent_p.K1728K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2892	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCCTATCACCTTTTTCTCCTT	0.284			NA											3	88					0	0	0.009096	0	0
HEY2	23493	broad.mit.edu	37	6	126080673	126080673	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:126080673G>A	uc003qad.2	+	5	930	c.739G>A	c.(739-741)GCC>ACC	p.A247T	HEY2_uc011ebr.1_Missense_Mutation_p.A201T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	247					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGCAGCGTCGCCCCCTGCGT	0.662			NA											28	281					0	0	0.007291	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239586	135239586	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:135239586G>A	uc003qew.2	-	7	1484	c.1431C>T	c.(1429-1431)TTC>TTT	p.F477F	ALDH8A1_uc003qex.2_Silent_p.F423F|ALDH8A1_uc010kgh.2_Silent_p.F255F|ALDH8A1_uc011ecx.1_Silent_p.F427F	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	477					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGATCTCAGTGAAGAAGTCGT	0.502			NA											4	51					0	0	0.009096	0	0
SASH1	23328	broad.mit.edu	37	6	148869469	148869469	+	Silent	SNP	C	C	T	rs111485793	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:148869469C>T	uc003qme.1	+	20	3994	c.3519C>T	c.(3517-3519)CCC>CCT	p.P1173P	SASH1_uc003qmf.1_Silent_p.P583P	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1173							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCGAAAGCCCGTCTCTCCTG	0.522			NA											8	99					0	0	0.008291	0	0
LPA	4018	broad.mit.edu	37	6	160978538	160978538	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:160978538T>G	uc003qtl.2	-	30	4817	c.4697A>C	c.(4696-4698)GAT>GCT	p.D1566A		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4074	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACACACGGATCGGTTGTGTA	0.498			NA											3	134					0	0	0.009096	0	0
CARD11	84433	broad.mit.edu	37	7	2985559	2985559	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:2985559C>T	uc003smv.2	-	4	656	c.252G>A	c.(250-252)GGG>GGA	p.G84G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCCCCTTTGCCCCTTGGTAT	0.493			NA	Mis		DLBCL								5	334					0	0	0.000602	0	0
SCIN	85477	broad.mit.edu	37	7	12692224	12692224	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:12692224C>T	uc003ssn.3	+	16	2242	c.2032C>T	c.(2032-2034)CTT>TTT	p.L678F	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.L431F	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	678	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAAAATGTACCTTGAGACAGA	0.393			NA											3	80					0	0	0.004672	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835714	47835714	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:47835714C>G	uc003tny.1	-	55	8228	c.8228G>C	c.(8227-8229)AGA>ACA	p.R2743T	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2743	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AAAAGATTTTCTTTTTTGGGG	0.343			NA											12	102					0	0	0.013537	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:55259515T>G	uc003tqk.2	+	21	2819	c.2573T>G	c.(2572-2574)CTG>CGG	p.L858R	EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	858	Cytoplasmic (Potential).|Protein kinase.		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537		L858R(NCIH1975_LUNG)	8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	67					0	0	0.010771	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:131866933C>T	uc003vra.3	-	17	3404	c.3175G>A	c.(3175-3177)GCC>ACC	p.A1059T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1059	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCCCATACGGCGATGGGTGTG	0.507			NA											13	63					0	0	0.001855	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402790	140402790	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:140402790C>T	uc003vwa.2	+	2	287	c.223C>T	c.(223-225)CAT>TAT	p.H75Y	NDUFB2_uc010lnl.2_RNA	NM_004546	NP_004537	O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	75					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.00956)				NADH(DB00157)	GCGCTTTTGGCATGACTCAGA	0.507			NA											5	319					0	0	0.001984	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412165	17412165	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:17412165G>A	uc011kyc.1	+	7	1321	c.1152G>A	c.(1150-1152)ACG>ACA	p.T384T	SLC7A2_uc011kyd.1_Intron|SLC7A2_uc011kye.1_Silent_p.T424T|SLC7A2_uc011kyf.1_Silent_p.T384T	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	384	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTCCAAAACGAAGACACCAA	0.433			NA											5	118					0	0	0.000602	0	0
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:55534023C>T	uc003xsd.1	+	2	645	c.497C>T	c.(496-498)ACG>ATG	p.T166M	RP1_uc011ldy.1_Missense_Mutation_p.T166M	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642	Colon(91;1014 1389 7634 14542 40420)		NA											15	96					0	0	0.004007	0	0
SGK3	23678	broad.mit.edu	37	8	67734616	67734616	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:67734616C>T	uc003xwr.2	+	6	638	c.339C>T	c.(337-339)GTC>GTT	p.V113V	SGK3_uc003xwp.2_Silent_p.V107V|SGK3_uc003xwt.2_Silent_p.V113V|SGK3_uc003xwu.2_Silent_p.V113V	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	113	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCCAGATGTCAGAGCATTCC	0.333			NA											12	166					0	0	0.010729	0	0
SAMD12	401474	broad.mit.edu	37	8	119391896	119391896	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:119391896C>T	uc003yom.2	-	4	495	c.366G>A	c.(364-366)ATG>ATA	p.M122I	SAMD12_uc010mda.1_Missense_Mutation_p.M122I|SAMD12_uc010mdb.1_RNA	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12 isoform	122	SAM.									ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGGCAATCCCCATTCGCTCGA	0.468			NA											23	132					0	0	0.00333	0	0
ENG	2022	broad.mit.edu	37	9	130581017	130581017	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr9:130581017G>A	uc004bsj.3	-	11	1819	c.1406C>T	c.(1405-1407)CCG>CTG	p.P469L	ENG_uc011mam.1_Missense_Mutation_p.P280L|ENG_uc004bsk.3_Missense_Mutation_p.P469L|uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	469	Ser/Thr-rich.|Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						CTGCTGCCCCGGCTCGATGGT	0.612			NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				6	124					0	0	0.001984	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337402	13337402	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:13337402C>G	uc010ned.2	-	1	1117	c.652G>C	c.(652-654)GAG>CAG	p.E218Q		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	218					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						GTTCCAGACTCATCACTTTCT	0.378			NA											12	592					0	0	0.010729	0	0
NDUFB11	54539	broad.mit.edu	37	X	47001817	47001817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:47001817C>T	uc004dhd.2	-	3	892	c.361G>A	c.(361-363)GAA>AAA	p.E121K	NDUFB11_uc004dhc.2_Missense_Mutation_p.E131K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	121					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						CTCTCAGCTTCGCGGCGGGAC	0.552	Ovarian(77;454 1296 7908 21551 37072)		NA											3	55					0	0	0.004672	0	0
SYP	6855	broad.mit.edu	37	X	49048091	49048091	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:49048091C>T	uc004dmz.1	-	6	761	c.745G>A	c.(745-747)GCC>ACC	p.A249T	SYP_uc011mmz.1_Missense_Mutation_p.A131T|SYP_uc004dna.1_Missense_Mutation_p.A243T	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	249	Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				TCGCCGTAGGCGTCCCCGGGT	0.706			NA											19	18					0	0	0.008871	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591554	56591554	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:56591554T>C	uc004dus.2	+	1	1483	c.1248T>C	c.(1246-1248)TTT>TTC	p.F416F	UBQLN2_uc011moq.1_Silent_p.F416F	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	416						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GCCCGCTGTTTACTGCAAATC	0.527	Esophageal Squamous(104;218 1492 6022 10838 28884)		NA											9	22					0	0	0.004482	0	0
DCX	1641	broad.mit.edu	37	X	110654183	110654183	+	Missense_Mutation	SNP	T	T	C	rs150627878		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:110654183T>C	uc004epd.2	-	1	192	c.20A>G	c.(19-21)CAT>CGT	p.H7R	DCX_uc011msv.1_Missense_Mutation_p.H7R|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	7					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						ACAATGACTATGAAGGGGGAG	0.438			NA											70	102					0	0	0.01441	0	0
CRNN	49860	broad.mit.edu	37	1	152382681	152382682	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:152382681_152382682delTC	uc001ezx.2	-	3	950_951	c.876_877delGA	c.(874-879)GGGACAfs	p.G292fs		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	292_293	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGTGTGTCCCTGCCTGTA	0.609			NA											33	488	---	---	---	---	NA	NA	NA	NA	NA
LONP1	9361	broad.mit.edu	37	19	5699070	5699071	+	Frame_Shift_Ins	INS	-	-	C	rs147331639	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:5699070_5699071insC	uc002mcx.2	-	10	1685_1686	c.1652_1653insG	c.(1651-1653)GGCfs	p.G551fs	LONP1_uc002mcy.2_Frame_Shift_Ins_p.G487fs|LONP1_uc010duh.2_Frame_Shift_Ins_p.G292fs|LONP1_uc010dui.2_Frame_Shift_Ins_p.G535fs|LONP1_uc002mcz.2_Frame_Shift_Ins_p.G355fs	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	551					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CGTCAGTCATGCCCCCGACGCT	0.644			NA											8	47	---	---	---	---	NA	NA	NA	NA	NA
