Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCDHGC5	56097	broad.mit.edu	37	5	140724920	140724920	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:140724920G>T	uc003ljm.2	+	0	1320	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L440L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCACCCTGCATGTGATTG	0.502000													33	146					1.61788e-16	1.89036e-16	1	1	0
ADAD2	161931	broad.mit.edu	37	16	84228709	84228709	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:84228709G>A	uc002fhq.2	+	4	972	c.858G>A	c.(856-858)gcG>gcA	p.A286A	ADAD2_uc002fhr.2_Silent_p.A214A|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	214	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCTGCGCAGCGTTGGTGAGCG	0.637000													21	60					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132911181	132911181	+	RNA	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:132911181G>A	uc002tti.3	-	4		c.948C>T			ANKRD30BL_uc002ttj.3_Intron					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						TCCACATGTAGCTTCAGCACA	0.383000													10	19					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47628619	47628619	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:47628619C>A	uc002xtx.4	+	27	4068	c.3916C>A	c.(3916-3918)Cgg>Agg	p.R1306R	ARFGEF2_uc010zyf.2_Silent_p.R599R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1306					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAGAGGCCTCGGGTTCGTTT	0.512000													52	39					2.12129e-23	2.55938e-23	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94821490	94821490	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:94821490G>A	uc011ltv.1	-	6	699	c.661C>T	c.(661-663)Cta>Tta	p.L221L	SPTLC1_uc004arl.1_Silent_p.L221L|SPTLC1_uc004arm.1_Silent_p.L221L			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	221						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGTTCTTTTAGTAGTCGCTCG	0.353000													10	15					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000													4	38					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932549	73932549	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:73932549G>A	uc003uaq.3	+	4	895	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.G200R|GTF2IRD1_uc003uap.3_Missense_Mutation_p.G168R|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G168R	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	168						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCCGTGCAGGGGCTGCCCGA	0.662000													3	39					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54852000	54852000	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:54852000C>T	uc002rxu.3	+	10	1491	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	SPTBN1_uc002rxv.1_Silent_p.L414L|SPTBN1_uc002rxx.3_Silent_p.L401L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	414					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAATGAGCTCATAAGACAGG	0.493000													10	45					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122724130	122724130	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:122724130G>A	uc003iea.3	+	3	450	c.342G>A	c.(340-342)aaG>aaA	p.K114K	EXOSC9_uc003idz.3_Silent_p.K114K|EXOSC9_uc003ieb.3_Silent_p.K98K|EXOSC9_uc010inp.1_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	114	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAATTCGAAGTGTATAGACA	0.393000													28	33					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724915	140724915	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:140724915A>C	uc003ljm.2	+	0	1315	c.1315A>C	c.(1315-1317)Acc>Ccc	p.T439P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.T439P	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCACATCACCCTGCATGT	0.507000													29	135					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30865203	30865203	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:30865203C>A	uc003nrv.3	+	13	2105	c.2063C>A	c.(2062-2064)cCa>cAa	p.P688Q	DDR1_uc010jse.3_Missense_Mutation_p.P645Q|DDR1_uc003nrq.3_Missense_Mutation_p.P645Q|DDR1_uc003nrr.3_Missense_Mutation_p.P682Q|DDR1_uc003nrs.3_Missense_Mutation_p.P682Q|DDR1_uc003nrt.3_Missense_Mutation_p.P645Q|DDR1_uc011dms.2_Missense_Mutation_p.P663Q|DDR1_uc003nru.3_Missense_Mutation_p.P645Q|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Missense_Mutation_p.P536Q|DDR1_uc003nrw.1_Missense_Mutation_p.P417Q	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	682	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G687R(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTCAAGGACCCAAACATCATT	0.547000													24	35					1.10923e-09	1.19539e-09	1	1	0
AGPHD1	123688	broad.mit.edu	37	15	78807316	78807316	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:78807316G>A	uc010unc.2	+	2	457	c.344G>A	c.(343-345)gGc>gAc	p.G115D	AGPHD1_uc002bdt.3_Missense_Mutation_p.G115D|AGPHD1_uc010ble.3_Missense_Mutation_p.G115D	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	115						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						TTAGATAGTGGCTCTGAAATC	0.378000													6	13					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308640	117308640	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:117308640T>C	uc001prh.1	-	24	4585	c.4583A>G	c.(4582-4584)gAg>gGg	p.E1528G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1468	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCGATGATCTCGCTGATGCG	0.657000													11	14					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569544	58569544	+	Splice_Site	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:58569544G>C	uc002ybe.3	+	11	1977	c.1666_splice	c.e11+1	p.G556_splice	CDH26_uc002ybf.1_Splice_Site_p.G136_splice|CDH26_uc010zzy.2_Splice_Site|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	556					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGAAATTGGGGTGAGTTTTT	0.433000													22	45					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836395	82836395	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:82836395A>T	uc003kii.3	+	7	7929	c.7573A>T	c.(7573-7575)Agg>Tgg	p.R2525W	VCAN_uc003kij.3_Missense_Mutation_p.R1538W|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.R1189W	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2525	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGACCGTTTCAGGGAATTCGA	0.403000													19	32					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141816463	141816463	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:141816463G>C	uc002tvj.1	-	8	2369	c.1397C>G	c.(1396-1398)aCt>aGt	p.T466S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	466					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTGGTTGAGTTCTTTTTTG	0.353000										TSP Lung(27;0.18)			14	15					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12226925	12226925	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:12226925C>G	uc001ilj.3	-	2	510	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q		NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.	32					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GTTGTTTTTTCAAGCTTGACC	0.313000													13	16					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145849	98145849	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:98145849G>C	uc001kml.2	-	14	2217	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	659	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAACTGAAGGGAGATCCGGTA	0.517000													14	45					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423455	19423455	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:19423455G>T	uc002zpg.3	+	3	633	c.591G>T	c.(589-591)aaG>aaT	p.K197N	HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA.	197					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACATCACCAAGGTGTACACAC	0.502000													21	35					6.33239e-15	7.1724e-15	1	1	0
SDC4	6385	broad.mit.edu	37	20	43959164	43959164	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:43959164C>A	uc002xnu.3	-	3	327	c.287G>T	c.(286-288)gGg>gTg	p.G96V	SDC4_uc010zws.2_Missense_Mutation_p.G24V	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	96						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	p.G96E(2)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GACTTGGCTCCCAGACCCTGC	0.532000			T	ROS1	NSCLC								15	40					4.7546e-09	5.07463e-09	1	1	0
LRRC55	219527	broad.mit.edu	37	11	56949792	56949792	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:56949792A>C	uc001njl.2	+	0	572	c.425A>C	c.(424-426)aAc>aCc	p.N142T		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	112						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTGCACAACAACTCCTTAATG	0.582000													16	24					0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35800375	35800375	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:35800375A>T	uc010zvu.2	-	4	556	c.465T>A	c.(463-465)agT>agA	p.S155R	C20orf132_uc002xgm.2_Missense_Mutation_p.S155R|C20orf132_uc002xgn.2_Missense_Mutation_p.S155R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	75										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CAATGGCCTCACTGAGCGGGT	0.468000													10	8					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53808687	53808687	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:53808687C>T	uc003dgv.4	+	33	4347	c.4184C>T	c.(4183-4185)gCg>gTg	p.A1395V	CACNA1D_uc003dgu.4_Missense_Mutation_p.A1415V|CACNA1D_uc003dgy.4_Missense_Mutation_p.A1380V|CACNA1D_uc003dgw.4_Missense_Mutation_p.A1062V|CACNA1D_uc003dgx.1_Missense_Mutation_p.A571V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1395					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1415V(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCCCCAGGCGGTGCTGCTG	0.547000													4	86					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28991587	28991587	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr8:28991587C>T	uc003xhh.4	-	21	2813	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	918					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATGCAGTGCGGCTCCTTGC	0.458000													17	31					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14896200	14896200	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:14896200T>A	uc001inf.3	+	8	952	c.811T>A	c.(811-813)Tct>Act	p.S271T		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	271					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGCGAAACATTCTTTGTCAAC	0.373000													12	74					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													5	257					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6157469	6157469	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:6157469T>C	uc001ijb.3	+	11	1382	c.1156T>C	c.(1156-1158)Ttc>Ctc	p.F386L	RBM17_uc010qav.2_Missense_Mutation_p.F386L|RBM17_uc001ijc.3_Non-coding_Transcript	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	386					RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AAAAGCATGTTTCTACAATTT	0.398000													66	85					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61112192	61112192	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:61112192C>A	uc010qif.1	-	2	294	c.228G>T	c.(226-228)ctG>ctT	p.L76L	FAM13C_uc010qid.2_5'UTR|FAM13C_uc001jkn.3_Silent_p.L54L|FAM13C_uc001jko.3_Silent_p.L54L|FAM13C_uc010qie.2_5'UTR|FAM13C_uc001jkp.3_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	54										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCTTCTACCAGAGCCCCTG	0.502000													13	22					0.00136819	0.0013933	1	1	0
SDC3	9672	broad.mit.edu	37	1	31347253	31347253	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:31347253G>T	uc001bse.2	-	3	1100	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P	SDC3_uc001bsd.2_Silent_p.P293P	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	351						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCACCCTTGGGCAGTGTCC	0.632000													29	60					4.22769e-11	4.64628e-11	1	1	0
PPIE	10450	broad.mit.edu	37	1	40211152	40211152	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40211152G>A	uc001cds.2	+	6	546	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	PPIE_uc010oiy.2_Missense_Mutation_p.V85I|PPIE_uc001cdt.2_Missense_Mutation_p.V98I|PPIE_uc001cdu.2_Non-coding_Transcript|PPIE_uc001cdw.3_Missense_Mutation_p.V164I|PPIE_uc001cdv.3_Missense_Mutation_p.V164I|PPIE_uc001cdx.2_Missense_Mutation_p.V80I	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	Homo sapiens peptidylprolyl isomerase E (cyclophilin E) (PPIE), transcript variant 1, mRNA.	164	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	RNA binding|cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTTCTGATGTCGTGCCCAT	0.572000													16	13					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179076735	179076735	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:179076735A>C	uc003fjt.3	+	2	447	c.440A>C	c.(439-441)gAt>gCt	p.D147A	MFN1_uc003fjs.3_Missense_Mutation_p.D119A|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	119					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGAACTGATGGAGATAAA	0.378000													27	43					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	rs149989199	byFrequency	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:66366974G>A	uc001oir.3	+	3	338	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	99	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632000													24	27					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949791	56949791	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:56949791A>T	uc001njl.2	+	0	571	c.424A>T	c.(424-426)Aac>Tac	p.N142Y		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	112						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTTGCACAACAACTCCTTAAT	0.582000													16	25					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373231	27373231	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:27373231A>T	uc010ylg.2	+	1	520	c.463A>T	c.(463-465)Aag>Tag	p.K155*		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	155					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCAAGGTAAGTCA	0.622000													97	134					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67787234	67787234	+	Silent	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:67787234A>T	uc010rpy.2	+	6	644	c.528A>T	c.(526-528)ctA>ctT	p.L176L	ALDH3B1_uc001omz.3_Silent_p.L176L|ALDH3B1_uc001ona.3_Silent_p.L140L|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	177					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGCAGCTGCTAGAGCACAGGT	0.657000													69	100					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151117019	151117019	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:151117019T>G	uc011eem.1	+	4	875	c.787T>G	c.(787-789)Tat>Gat	p.Y263D	PLEKHG1_uc011eel.1_Missense_Mutation_p.Y244D|PLEKHG1_uc003qny.1_Missense_Mutation_p.Y204D|PLEKHG1_uc003qnz.2_Missense_Mutation_p.Y204D	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	204	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTATACCCAGTATTGCACTAA	0.358000													40	53					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20796432	20796432	+	Silent	SNP	G	G	C	rs149300605		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:20796432G>C	uc002zsl.2	-	6	1990	c.1833C>G	c.(1831-1833)gcC>gcG	p.A611A	KLHL22_uc011ahr.2_Silent_p.A468A	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	611					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGTCCGGGTCGGCCTGGCTGC	0.647000													21	35					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25271238	25271238	+	Missense_Mutation	SNP	G	G	A	rs139162483		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:25271238G>A	uc002wup.3	+	15	2058	c.1949G>A	c.(1948-1950)cGt>cAt	p.R650H	BC128043_uc010gdm.1_5'Flank	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	650					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GAGAACTACCGTGTGTCCTTG	0.552000													139	95					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188167	152188167	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:152188167A>G	uc001ezt.1	-	2	6014	c.5938T>C	c.(5938-5940)Tat>Cat	p.Y1980H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1980					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACTCATATGGGCCACGG	0.592000													57	717					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420033	19420033	+	RNA	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr13:19420033G>A	uc010tcj.1	-	0		c.26077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAAATAAATAGAAAATAACAT	0.249000													5	24					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237295	56237295	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:56237295G>A	uc010rjk.2	-	0	720	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCTGCTGAGCGCATTCGCAGA	0.418000													4	71					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208730	67208730	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:67208730G>A	uc010vjd.2	+	2	685	c.492G>A	c.(490-492)cgG>cgA	p.R164R	NOL3_uc010vjc.2_Missense_Mutation_p.E168K|NOL3_uc002erp.3_Missense_Mutation_p.E168K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	164					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGctgaaccggagccggagcc	0.682000													5	28					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36515358	36515358	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:36515358A>C	uc010eeq.2	-	5	1172	c.858T>G	c.(856-858)aaT>aaG	p.N286K	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.N286K	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	286					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TAAGCATGAGATTGCCTGGGA	0.617000													27	35					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15303027	15303027	+	Silent	SNP	G	G	T	rs116044239	by1000genomes	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:15303027G>T	uc002nan.3	-	3	499	c.423C>A	c.(421-423)cgC>cgA	p.R141R	NOTCH3_uc002nao.1_Silent_p.R141R	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	141	EGF-like 3.		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCAGAGGAAGCGTCCATCGG	0.701000													9	18					0.0477658	0.0477658	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64633956	64633956	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:64633956T>A	uc001xgl.3	+	90	16841	c.16611T>A	c.(16609-16611)caT>caA	p.H5537Q	SYNE2_uc001xgm.3_Missense_Mutation_p.H5537Q|SYNE2_uc010apy.3_Missense_Mutation_p.H1922Q|SYNE2_uc001xgn.3_Missense_Mutation_p.H499Q|SYNE2_uc021rui.1_Missense_Mutation_p.H457Q|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5537					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAGAATCATGTGCTGGCAC	0.378000													13	31					0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000													4	59					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52256297	52256297	+	Nonsense_Mutation	SNP	C	C	A	rs147279713	by1000genomes	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:52256297C>A	uc001ctc.4	-	30	3602	c.3280G>T	c.(3280-3282)Gag>Tag	p.E1094*	NRD1_uc009vzb.3_Nonsense_Mutation_p.E789*|NRD1_uc001cte.3_Nonsense_Mutation_p.E962*|NRD1_uc001ctd.4_Nonsense_Mutation_p.E1026*	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	1025					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCTCACACTCCTTCAGCTTG	0.527000													24	30					3.83957e-06	3.94622e-06	1	1	0
TNIP1	10318	broad.mit.edu	37	5	150444534	150444534	+	Silent	SNP	C	C	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:150444534C>G	uc003lti.3	-	1	364	c.123G>C	c.(121-123)ggG>ggC	p.G41G	TNIP1_uc010jhq.2_5'Flank|TNIP1_uc010jho.2_5'Flank|TNIP1_uc010jhp.2_5'Flank|TNIP1_uc010jhl.3_5'Flank|TNIP1_uc010jhn.3_Silent_p.G41G|TNIP1_uc010jhm.3_Silent_p.G41G|TNIP1_uc010jhr.2_Silent_p.G41G|TNIP1_uc011dco.2_Silent_p.G41G|TNIP1_uc003ltg.3_Intron|TNIP1_uc003ltk.3_Silent_p.G41G|TNIP1_uc003ltj.3_Silent_p.G41G|TNIP1_uc021ygb.1_Silent_p.G41G|TNIP1_uc010jhs.2_Intron	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	41					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCTTTATCCCTTGCATTT	0.567000													41	77					0	0	1	0	0
NXT2	55916	broad.mit.edu	37	X	108780250	108780250	+	Splice_Site	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrX:108780250G>A	uc004eoe.2	+	2	282	c.180_splice	c.e2+1	p.L60_splice	NXT2_uc004eof.2_Splice_Site_p.L5_splice|NXT2_uc004eog.2_5'Flank	NM_018698	NP_001229547	Q9NPJ8	NXT2_HUMAN	Homo sapiens nuclear transport factor 2-like export factor 2 (NXT2), transcript variant 1, mRNA.	5	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						CCACGTCTCTGGTGAGTGCCT	0.642000													6	8					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153712	43153712	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:43153712T>C	uc003ouk.3	+	3	845	c.770T>C	c.(769-771)tTc>tCc	p.F257S	CUL9_uc003ouj.1_Missense_Mutation_p.F257S|CUL9_uc003oul.3_Missense_Mutation_p.F257S|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	257					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAGCTGCTTTTCTCCTTGGTG	0.532000													24	36					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9515054	9515054	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:9515054T>C	uc002qzh.2	+	16	2067	c.1727T>C	c.(1726-1728)aTc>aCc	p.I576T	ASAP2_uc002qzi.2_Missense_Mutation_p.I576T	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	576					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACGGAAAAAATCCCACTGGCC	0.473000													42	61					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71064324	71064324	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:71064324T>A	uc003hfc.3	+	4	421	c.404T>A	c.(403-405)aTg>aAg	p.M135K		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	135	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCTTCAAAATGCCTCAAGAG	0.378000													6	74					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179426711	179426711	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:179426711C>A	uc003fkh.3	+	5	852	c.771C>A	c.(769-771)gcC>gcA	p.A257A		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	257					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ACCCACTAGCCGTGAAACTGG	0.547000													31	36					8.58068e-18	1.02415e-17	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92349359	92349359	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:92349359G>T	uc010aue.3	-	8	1397	c.924C>A	c.(922-924)ggC>ggA	p.G308G	FBLN5_uc010aud.3_Silent_p.G272G|FBLN5_uc001xzx.4_Silent_p.G267G	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	267	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGAAGTATGTGCCGGGCTGGT	0.562000													35	46					1.90571e-15	2.18076e-15	1	1	0
ZNF709	163051	broad.mit.edu	37	19	12576137	12576137	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:12576137T>G	uc002mtv.4	-	3	760	c.599A>C	c.(598-600)gAa>gCa	p.E200A	ZNF709_uc002mtw.4_Missense_Mutation_p.E168A|ZNF709_uc002mtx.4_Missense_Mutation_p.E200A	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTCCCACATTCCTTACATTC	0.413000													28	45					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747234	44747234	+	Silent	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:44747234T>C	uc003tln.3	+	21	3009	c.2850T>C	c.(2848-2850)aaT>aaC	p.N950N	OGDH_uc011kbx.2_Silent_p.N946N|OGDH_uc011kby.2_Silent_p.N800N|OGDH_uc003tlp.3_Silent_p.N961N|OGDH_uc011kbz.2_Silent_p.N745N	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	950					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTACCCCAATGCTGAGCTGG	0.567000													60	160					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420035	19420035	+	RNA	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr13:19420035A>G	uc010tcj.1	-	0		c.26075T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAAATAGAAAATAACATTT	0.254000													4	22					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865055	89865055	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:89865055T>C	uc002bns.4	-	15	2792	c.2510A>G	c.(2509-2511)tAt>tGt	p.Y837C	POLG_uc002bnr.4_Missense_Mutation_p.Y837C	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	837					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GATGGCCCCATAGAGGCCTTC	0.627000								DNA polymerases (catalytic subunits)					5	96					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502569	149502569	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:149502569C>A	uc010lpk.3	+	56	8373	c.8373C>A	c.(8371-8373)ggC>ggA	p.G2791G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2794	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGAGGGGGCCCTGGCTGGC	0.677000													15	66					6.31663e-08	6.67758e-08	1	1	0
CPN2	1370	broad.mit.edu	37	3	194062198	194062198	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:194062198G>T	uc003fts.3	-	1	1324	c.1234C>A	c.(1234-1236)Cag>Aag	p.Q412K	CPN2_uc021xix.1_Missense_Mutation_p.Q412K	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	412	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TCGGTGTACTGCTGCAGCCAG	0.602000													28	42					2.44723e-14	2.74387e-14	1	1	0
UBE3C	9690	broad.mit.edu	37	7	156963038	156963038	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:156963038T>A	uc010lqs.3	+	3	548	c.236T>A	c.(235-237)tTg>tAg	p.L79*	UBE3C_uc003wnf.2_Nonsense_Mutation_p.L36*|UBE3C_uc003wng.2_Nonsense_Mutation_p.L79*	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	79					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGCTACCTTGTCACAGTCC	0.393000													38	96					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160305059	160305059	+	Silent	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:160305059A>G	uc001fvv.4	-	3	676	c.282T>C	c.(280-282)gaT>gaC	p.D94D	COPA_uc009wti.3_Silent_p.D94D|COPA_uc009wtj.1_Silent_p.D40D	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	94					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCGAATATAATCTAAGTGCC	0.388000													11	13					0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	C	T	rs61737188	by1000genomes	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000													3	33					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122755201	122755201	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrX:122755201T>A	uc004etu.3	-	30	4055	c.4023A>T	c.(4021-4023)aaA>aaT	p.K1341N	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.K162N	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1341	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGTCTTAAATTTCTCATCTT	0.373000													53	9					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40536545	40536545	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40536545C>T	uc009vvz.3	+	11	1452	c.1238C>T	c.(1237-1239)aCa>aTa	p.T413I	CAP1_uc010oje.2_Missense_Mutation_p.T330I|CAP1_uc001cfa.4_Missense_Mutation_p.T413I|CAP1_uc001cey.4_Missense_Mutation_p.T413I|CAP1_uc001cez.4_Missense_Mutation_p.T413I	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	413	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAACAAAACAGATGGCTGC	0.463000													46	72					0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40961061	40961061	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40961061G>T	uc010ojk.2	+	5	1208	c.914G>T	c.(913-915)tGt>tTt	p.C305F	ZNF642_uc001cfo.3_Missense_Mutation_p.C304F|ZNF642_uc009vwb.3_Missense_Mutation_p.C304F	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TGTAAGGAATGTGGAAGGGCC	0.388000													20	38					1.37522e-17	1.62393e-17	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141816476	141816476	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:141816476A>T	uc002tvj.1	-	8	2356	c.1384T>A	c.(1384-1386)Tat>Aat	p.Y462N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	462					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTTTGATAAATTCGGATT	0.343000										TSP Lung(27;0.18)			9	18					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87908439	87908439	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:87908439G>A	uc001pcj.2	-	0	197	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	38					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTGGCCCGGTAGTGCGAAG	0.612000													20	30					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30897803	30897803	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:30897803G>A	uc002wxq.3	+	1	403	c.223G>A	c.(223-225)Gag>Aag	p.E75K	KIF3B_uc010ztv.2_Missense_Mutation_p.E75K|KIF3B_uc010ztw.2_Missense_Mutation_p.E75K	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	75	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTGTACGATGAGACGTTCCG	0.488000													77	61					0	0	1	0	0
ARF3	377	broad.mit.edu	37	12	49334777	49334777	+	Silent	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr12:49334777T>C	uc001rsr.2	-	1	355	c.102A>G	c.(100-102)ctA>ctG	p.L34L	ARF3_uc010smc.1_Silent_p.L34L	NM_001659	NP_001650	P61204	ARF3_HUMAN	Homo sapiens ADP-ribosylation factor 3 (ARF3), mRNA.	34					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCAGCTTGTATAGGATGGTGG	0.552000													91	182					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561173	110561173	+	Splice_Site	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:110561173G>A	uc001dyx.3	+	13	1507	c.1219_splice	c.e13-1	p.T407_splice	AHCYL1_uc010ovw.2_Splice_Site_p.T360_splice|AHCYL1_uc021ork.1_Splice_Site_p.T360_splice|AHCYL1_uc010ovx.2_Splice_Site_p.T360_splice|AHCYL1_uc001dyy.3_Splice_Site_p.T360_splice	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	407	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTTCCTTTCAGACCAGCCTCC	0.498000													15	19					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167833322	167833322	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:167833322A>C	uc003lzu.3	+	5	803	c.710A>C	c.(709-711)gAt>gCt	p.D237A	WWC1_uc003lzv.3_Missense_Mutation_p.D237A|WWC1_uc011den.2_Missense_Mutation_p.D237A|WWC1_uc003lzw.3_Missense_Mutation_p.D36A	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	237					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAAAGCAAGATCTCATTAAG	0.458000													62	86					0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114450961	114450961	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:114450961C>T	uc001ppc.3	-	4	1173	c.992G>A	c.(991-993)aGt>aAt	p.S331N	FAM55D_uc001ppd.3_Missense_Mutation_p.S47N	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	331						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGTAGCCAAACTACAGGAGAC	0.443000													44	75					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168349109	168349109	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:168349109A>T	uc021zik.1	+	27	3957	c.3638A>T	c.(3637-3639)gAa>gTa	p.E1213V	MLLT4_uc003qwb.1_Missense_Mutation_p.E1238V|MLLT4_uc003qwc.2_Missense_Mutation_p.E1254V|MLLT4_uc021zij.1_Missense_Mutation_p.E1237V|MLLT4_uc021zim.1_Missense_Mutation_p.E800V|MLLT4_uc003qwg.1_Missense_Mutation_p.E563V	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1254					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AATTATGAGGAAAAGCCACAT	0.448000			T	MLL	AL								22	26					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14581037	14581037	+	Missense_Mutation	SNP	G	G	T	rs149980109	by1000genomes	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:14581037G>T	uc002myp.3	+	18	2524	c.2356G>T	c.(2356-2358)Gtg>Ttg	p.V786L	PKN1_uc002myq.3_Missense_Mutation_p.V792L	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	786	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCCCCTGAGGTGCTGACGGA	0.647000													7	52					0.00198382	0.00200185	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:46279860G>A	uc002xtk.3	+	19	4047	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_uc002xtl.3_Silent_p.Q1258Q|NCOA3_uc002xtn.3_Silent_p.Q1261Q|NCOA3_uc010ght.2_Silent_p.Q1253Q|NCOA3_uc002xtm.3_Silent_p.Q1257Q|NCOA3_uc010zyc.2_Silent_p.Q1057Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													8	107					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149897857	149897857	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:149897857G>A	uc001etk.2	-	3	1277	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	SF3B4_uc009wll.1_Missense_Mutation_p.P262S	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	262	Poly-Pro.					U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGTGGTGGGGGCATGGCTGGG	0.637000													3	36					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951572	49951572	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr12:49951572G>A	uc001ruh.1	+	14	3348	c.3088G>A	c.(3088-3090)Gca>Aca	p.A1030T	KCNH3_uc010smj.1_Missense_Mutation_p.A970T	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	1030	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GACTGGGCCCGCAGAGCCTGT	0.682000													4	78					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:107049681T>C	uc010ywi.1	-	15	2323	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	756					intracellular transport		binding	p.N756D(9)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	366					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42462024	42462024	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:42462024G>T	uc001zpd.3	-	12	1315	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	VPS39_uc001zpc.3_Silent_p.P377P	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	388					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGTAGTCTGTGGGCAGCAGGT	0.493000													29	35					1.06801e-11	1.18549e-11	1	1	0
GBF1	8729	broad.mit.edu	37	10	104139057	104139057	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:104139057A>G	uc001kux.2	+	33	4802	c.4508A>G	c.(4507-4509)cAc>cGc	p.H1503R	GBF1_uc001kuy.2_Missense_Mutation_p.H1499R|GBF1_uc001kuz.2_Missense_Mutation_p.H1500R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1503					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GACCTGATGCACACCCTGCAC	0.587000													10	81					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46765598	46765598	+	Silent	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:46765598A>G	uc003bhw.1	-	25	7863	c.7863T>C	c.(7861-7863)gcT>gcC	p.A2621A	CELSR1_uc011arc.1_Missense_Mutation_p.C1087R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2621					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGATTATAACAGCTCCGATGG	0.627000													21	35					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80654830	80654830	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:80654830G>T	uc002ffs.3	-	3	942	c.837C>A	c.(835-837)atC>atA	p.I279I		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	279						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTTCTTTCATGATCTGCCGGC	0.582000													7	23					2.0095e-06	2.08462e-06	1	1	0
MIOX	55586	broad.mit.edu	37	22	50926723	50926723	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:50926723G>T	uc003bll.1	+	4	474	c.360G>T	c.(358-360)ggG>ggT	p.G120G	MIOX_uc003blm.1_Silent_p.G120G|MIOX_uc003bln.1_Missense_Mutation_p.G131V	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	120					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)		ACCTCGTCGGGCTCCTGCACG	0.652000													15	21					6.72482e-11	7.31819e-11	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22849618	22849618	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr21:22849618A>G	uc002yld.2	+	14	2152	c.1903A>G	c.(1903-1905)Aag>Gag	p.K635E	NCAM2_uc011acb.2_Missense_Mutation_p.K493E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	635	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.D634N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACAGAAAGATAAGGAAGACCA	0.338000													11	21					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153713	43153713	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:43153713C>T	uc003ouk.3	+	3	846	c.771C>T	c.(769-771)ttC>ttT	p.F257F	CUL9_uc003ouj.1_Silent_p.F257F|CUL9_uc003oul.3_Silent_p.F257F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	257					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCTGCTTTTCTCCTTGGTGA	0.527000													26	35					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3192650	3192650	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:3192650G>A	uc002lxi.3	+	1	521	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	123					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCAGGACGTCGTCCGGGT	0.697000													11	12					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33365943	33365943	+	Splice_Site	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:33365943G>T	uc003oef.4	+	2	600	c.150_splice	c.e2+1	p.K50_splice	KIFC1_uc011drf.2_Splice_Site_p.K50_splice|BC146941_uc011drg.2_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	50					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AGCCTGAGAAGGTGAGCTGGG	0.542000													14	30					4.3838e-07	4.59058e-07	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109380509	109380509	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:109380509T>G	uc002tem.4	+	19	3640	c.3514T>G	c.(3514-3516)Ttt>Gtt	p.F1172V		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1172	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGGTCCTCACTTTGAGCCTGT	0.428000													54	84					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330116	125330116	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:125330116C>T	uc004bmp.1	-	0	641	c.641G>A	c.(640-642)tGc>tAc	p.C214Y		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGCAATGCAGAGAAAACG	0.438000													22	24					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50357591	50357591	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:50357591C>T	uc003czx.3	-	0	2623	c.330G>A	c.(328-330)cgG>cgA	p.R110R	HYAL2_uc003czw.3_Silent_p.R110R|HYAL2_uc003czv.3_Silent_p.R110R|HYAL2_uc010hlj.2_Silent_p.R110R	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	110						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCAGCATCTTCCGGTGTGCCC	0.597000													29	53					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70813231	70813231	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:70813231T>A	uc003kbp.1	+	21	5206	c.4943T>A	c.(4942-4944)gTg>gAg	p.V1648E	BDP1_uc003kbo.3_Missense_Mutation_p.V1648E	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1648					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.Q1647E(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAAGTCAGGTGGTTCTTGTA	0.308000													26	37					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93999658	93999658	+	Silent	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:93999658A>C	uc001khw.2	-	1	654	c.450T>G	c.(448-450)acT>acG	p.T150T	CPEB3_uc001khu.2_Silent_p.T150T|CPEB3_uc001khv.2_Silent_p.T150T|CPEB3_uc010qnn.2_Silent_p.T150T	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	150	Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGGAGAAAGTGCCTCCGA	0.677000													9	19					0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107600260	107600260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:107600260delC	uc010ous.2	+	0	994	c.923delC	c.(922-924)tccfs	p.S308fs		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	Homo sapiens protein arginine methyltransferase 6 (PRMT6), mRNA.	308					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTGGTGCTGTCCACCTCGCCT	0.607													37	46	---	---	---	---					
POLR3C	10623	broad.mit.edu	37	1	145592731	145592731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:145592731delG	uc001eog.3	-	14	1646	c.1603delC	c.(1603-1605)ctgfs	p.L535fs	NUDT17_uc001eof.1_5'Flank|POLR3C_uc001eoh.3_Frame_Shift_Del_p.L522fs|POLR3C_uc009wix.3_3'UTR	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	522					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GACTCCAGCAGGAAGATGGTT	0.438													30	53	---	---	---	---					
FBXO36	130888	broad.mit.edu	37	2	230861514	230861516	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:230861514_230861516delAAT	uc010fxi.1	+	2	276_278	c.253_255delAAT	c.(253-255)aatdel	p.N85del	FBXO36_uc002vqa.3_In_Frame_Del_p.N85del|FBXO36_uc002vqb.3_In_Frame_Del_p.N54del	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	85										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTATGTCATCAATTTGTGCAAAG	0.355													47	71	---	---	---	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	-	CC	rs143568999	by1000genomes	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													4	3	---	---	---	---					
CEP63	80254	broad.mit.edu	37	3	134267996	134267996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:134267996delA	uc003eqo.1	+	10	1609	c.1160delA	c.(1159-1161)gaafs	p.E387fs	CEP63_uc003eql.1_Frame_Shift_Del_p.E341fs|CEP63_uc003eqm.3_Frame_Shift_Del_p.E341fs|CEP63_uc003eqn.1_Frame_Shift_Del_p.E387fs|CEP63_uc003eqp.1_Frame_Shift_Del_p.E16fs	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	387					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CATAACAATGAATACAAAGCA	0.373													16	36	---	---	---	---					
SHROOM3	57619	broad.mit.edu	37	4	77661360	77661360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:77661360delG	uc011cbx.2	+	4	2987	c.2034delG	c.(2032-2034)ctgfs	p.L678fs	SHROOM3_uc011cbz.1_Frame_Shift_Del_p.L502fs|SHROOM3_uc003hkf.1_Frame_Shift_Del_p.L553fs|SHROOM3_uc003hkg.3_Frame_Shift_Del_p.L456fs	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	678					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACAGCAGCCTGGAGCTAGGCC	0.602													83	84	---	---	---	---					
GPANK1	7918	broad.mit.edu	37	6	31632033	31632035	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:31632033_31632035delTTC	uc003nvn.3	-	1	882_884	c.221_223delGAA	c.(220-225)agaata>ata	p.R74del	GPANK1_uc021yuu.1_In_Frame_Del_p.R74del|GPANK1_uc003nvo.4_In_Frame_Del_p.R74del|GPANK1_uc003nvp.4_In_Frame_Del_p.R74del|GPANK1_uc003nvq.3_In_Frame_Del_p.R74del|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc021yuv.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	Homo sapiens G patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA.	74						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCCTTCATTATTCTTCTTTTCTT	0.507													34	59	---	---	---	---					
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:31378634_31378635insT	uc003tch.3	-	1	601_602	c.248_249insA	c.(247-249)aagfs	p.K83fs	NEUROD6_uc022abi.1_Frame_Shift_Ins_p.K83fs	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	83					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.520													7	352	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:77423460delT	uc003ugn.3	-	1	458	c.231delA	c.(229-231)aaafs	p.K77fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.K77fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													8	195	---	---	---	---					
DDX58	23586	broad.mit.edu	37	9	32467853	32467868	+	Frame_Shift_Del	DEL	AGGTGGCAATCAGAAT	AGGTGGCAATCAGAAT	-	rs61757209	byFrequency	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:32467853_32467868delAGGTGGCAATCAGAAT	uc003zra.3	-	14	2235_2250	c.2077_2092delATTCTGATTGCCACCT	c.(2077-2094)attctgattgccacctcafs	p.I693fs	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Frame_Shift_Del_p.I648fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.I490fs|DDX58_uc010mji.3_Frame_Shift_Del_p.I622fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	693	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCAGCAACTGAGGTGGCAATCAGAATATTGTGATCT	0.435													17	39	---	---	---	---					
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr12:8200558_8200560delCAG	uc001qtu.3	+	6	1983_1985	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_uc001qtt.1_In_Frame_Del_p.Q306del	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.640													9	96	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21870158	21870158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:21870158delG	uc001war.2	-	18	4085	c.4020delC	c.(4018-4020)accfs	p.T1340fs	CHD8_uc001was.2_Frame_Shift_Del_p.T1061fs|CHD8_uc001wav.1_Frame_Shift_Del_p.T503fs	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1340					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAATGGTGATGGTTGTAGTTC	0.428													63	78	---	---	---	---					
SCAPER	49855	broad.mit.edu	37	15	76726602	76726603	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:76726602_76726603insTA	uc002bby.3	-	24	3186_3187	c.3127_3128insTA	c.(3127-3129)aaafs	p.K1043fs	SCAPER_uc010bkr.3_Frame_Shift_Ins_p.K351fs|SCAPER_uc002bbx.3_Frame_Shift_Ins_p.K797fs|SCAPER_uc002bbz.1_Frame_Shift_Ins_p.K914fs	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1042						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAAACTTGTTTATTTGTATTT	0.371													36	56	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18856931	18856931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:18856931delC	uc002dfm.3	-	38	6402	c.6039delG	c.(6037-6039)ttgfs	p.L2013fs	SMG1_uc010bwb.3_Frame_Shift_Del_p.L1873fs|SMG1_uc010bwa.3_Frame_Shift_Del_p.L744fs|SMG1_uc021ted.1_Frame_Shift_Del_p.L311fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2013					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGGCTTCATCAAAGCTGTGT	0.388													84	56	---	---	---	---					
LOC100132247	100132247	broad.mit.edu	37	16	22545580	22545585	+	In_Frame_Del	DEL	AATCTC	AATCTC	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:22545580_22545585delAATCTC	uc010bxg.3	+	8	1458_1463	c.1276_1281delAATCTC	c.(1276-1281)aatctcdel	p.NL426del	LOC100132247_uc010vbv.2_In_Frame_Del_p.NL426del|LOC100132247_uc021tew.1_In_Frame_Del_p.NL426del|LOC100132247_uc010bxi.3_In_Frame_Del_p.NL407del|LOC100132247_uc010bxk.3_In_Frame_Del_p.NL243del	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGCGGATGATAATCTCAAGACACCTT	0.597													6	8	---	---	---	---					
PIP5K1C	23396	broad.mit.edu	37	19	3653310	3653310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:3653310delT	uc002lyj.2	-	6	988	c.899delA	c.(898-900)aagfs	p.K300fs	PIP5K1C_uc010xhq.2_Frame_Shift_Del_p.K300fs|PIP5K1C_uc010xhr.2_Frame_Shift_Del_p.K300fs	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	300	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGCAGCGTCTTGACCAGGGC	0.692													24	43	---	---	---	---					
CHMP2A	27243	broad.mit.edu	37	19	59063432	59063433	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:59063432_59063433insT	uc002qti.3	-	2	894_895	c.468_469insA	c.(466-471)gatgaafs	p.D156fs	CHMP2A_uc002qtj.3_Frame_Shift_Ins_p.D156fs|CHMP2A_uc002qtk.3_Frame_Shift_Ins_p.D156fs	NM_198426	NP_940818	O43633	CHM2A_HUMAN	Homo sapiens charged multivesicular body protein 2A (CHMP2A), transcript variant 2, mRNA.	156	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCTCCTCTTCATCTTCCTCAT	0.505													80	137	---	---	---	---					
WWC3	55841	broad.mit.edu	37	X	10094307	10094307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrX:10094307delC	uc004csx.4	+	14	2265	c.2067delC	c.(2065-2067)tacfs	p.Y689fs	WWC3_uc010nds.3_Frame_Shift_Del_p.Y353fs|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	689	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCAGTTATACGTGTGTTCAG	0.572													11	69	---	---	---	---					
