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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459098	45459101	+	RNA	DEL	CAAA	CAAA	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CAAA	CAAA	-	-	CAAA	CAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:45459098_45459101delCAAA	ENST00000548424.1	+	0	448										NA											NA						ACAAGCTGCTCAAACAGATTCCGC	0.485		NA											False	1	True	12:45459098	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
PMEPA1	56937	broad.mit.edu	37	20	56227291	56227309	+	Frame_Shift_Del	DEL	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	-	-	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr20:56227291_56227309delGCCCCTCCATGCGCCCGCC	ENST00000341744.3	-	4	983_1001	c.664_682delGGCGGGCGCATGGAGGGGC	c.(664-684)ggcgggcgcatggaggggccgfs	p.GGRMEGP222fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.GGRMEGP187fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	222					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTGGGCGGCGGCCCCTCCATGCGCCCGCCGCTGCCGTAG	0.694		NA											False	1	False	20:56227291	0
MIR659	0	broad.mit.edu	37	22	38243711	38243757	+	RNA	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000384963.1	-	0	24_70					NR_030396.1					NA											NA						ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421		NA											False	1	False	22:38243711	0
TMEM37	140738	broad.mit.edu	37	2	120194962	120194962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:120194962delC	ENST00000409826.1	+	2	581	c.555delC	c.(553-555)ttcfs	p.F185fs	TMEM37_ENST00000306406.4_Frame_Shift_Del_p.F173fs|TMEM37_ENST00000465296.1_3'UTR			Q8WXS4	CCGL_HUMAN	transmembrane protein 37	173						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCCTCCTCTTCCTGAACGCCA	0.537		NA											False	2	False	2:120194962	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
MLLT4	4301	broad.mit.edu	37	6	168299092	168299092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:168299092delG	ENST00000400822.3	+	11	1522	c.1522delG	c.(1522-1524)gcafs	p.A508fs	MLLT4_ENST00000366806.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.A493fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.A509fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	509					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)		TCATGCTCTTGCAAAAAGATC	0.438		NA	T	MLL	AL								False	1	False	6:168299092	0
ARID1A	8289	broad.mit.edu	37	1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:27101342G>T	ENST00000324856.7	+	18	4995	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1542*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642		NA	"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								False	0	False	1:27101342	0
QRFPR	84109	broad.mit.edu	37	4	122258001	122258001	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:122258001G>A	ENST00000394427.2	-	3	933	c.522C>T	c.(520-522)gtC>gtT	p.V174V	QRFPR_ENST00000334383.5_Silent_p.V174V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	174						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATCCTACGATGACTGCCACCA	0.413		NA											False	0	False	4:122258001	0
INTS1	26173	broad.mit.edu	37	7	1522220	1522220	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:1522220C>T	ENST00000389470.4	-	28	4150	c.4151G>A	c.(4150-4152)cGc>cAc	p.R1384H	INTS1_ENST00000404767.3_Missense_Mutation_p.R1222H			Q8N201	INT1_HUMAN	integrator complex subunit 1	1222					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACGGATCATGCGCAGCTTCAG	0.667		NA											False	0	False	7:1522220	0
NEBL	10529	broad.mit.edu	37	10	21158753	21158753	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr10:21158753G>A	ENST00000377122.4	-	6	894	c.498C>T	c.(496-498)gaC>gaT	p.D166D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Silent_p.D166D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	166					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCTGCACGTCTTTCCTAT	0.358		NA											False	0	False	10:21158753	0
ZBED2	79413	broad.mit.edu	37	3	111312977	111312977	+	Silent	SNP	C	C	T	rs145211272		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:111312977C>T	ENST00000317012.4	-	2	1080	c.72G>A	c.(70-72)gaG>gaA	p.E24E	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	24							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TCTCTTCCTCCTCCTTCATCT	0.507		NA											False	0	True	3:111312977	0
IQCF2	389123	broad.mit.edu	37	3	51897313	51897313	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:51897313G>A	ENST00000333127.3	+	3	451	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	141										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCAGACCTGCGCTCTCCTC	0.567		NA											False	0	False	3:51897313	0
SLC3A1	6519	broad.mit.edu	37	2	44531289	44531289	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:44531289G>A	ENST00000260649.6	+	7	1220	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	SLC3A1_ENST00000409387.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G382R|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G13R|SLC3A1_ENST00000409294.1_Missense_Mutation_p.G2R|SLC3A1_ENST00000409380.1_Missense_Mutation_p.G104R|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G382R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	382					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TAGGTTCATGGGGACTGAAGC	0.458		NA											False	0	True	2:44531289	0
PCDHA2	0	broad.mit.edu	37	5	140176168	140176168	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:140176168C>T	ENST00000526136.1	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A540V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A540V	NM_018905.2	NP_061728.1				NA										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.677		NA											False	0	True	5:140176168	0
MFSD2A	84879	broad.mit.edu	37	1	40421012	40421012	+	Silent	SNP	A	A	G			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:40421012A>G	ENST00000372809.5	+	1	191	c.48A>G	c.(46-48)ctA>ctG	p.L16L	MFSD2A_ENST00000420632.2_5'UTR|MFSD2A_ENST00000372811.5_Silent_p.L16L	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	16					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGGGCTGCTACCCACCAGCA	0.716		NA											False	0	True	1:40421012	0
PAWR	5074	broad.mit.edu	37	12	79990331	79990331	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:79990331G>A	ENST00000328827.4	-	5	1163	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	264					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTGCTACTTGAAACCAGAGT	0.323		NA											False	0	True	12:79990331	0
STT3A	3703	broad.mit.edu	37	11	125476284	125476284	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:125476284G>A	ENST00000392708.4	+	8	863	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	STT3A_ENST00000531491.1_Missense_Mutation_p.R143Q|STT3A_ENST00000529196.1_Missense_Mutation_p.R235Q	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	235					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTCTCACCGGATCTATGTG	0.493		NA											False	0	False	11:125476284	0
MUC5B	727897	broad.mit.edu	37	11	1268340	1268340	+	Silent	SNP	A	A	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1268340A>T	ENST00000447027.1	+	31	10297	c.10239A>T	c.(10237-10239)ccA>ccT	p.P3413P	MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637		NA											False	0	True	11:1268340	0
FBXW7	0	broad.mit.edu	37	4	153244139	153244139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:153244139C>T	ENST00000281708.4	-	12	3247	c.2018G>A	c.(2017-2019)tGg>tAg	p.W673*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W593*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W497*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W555*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	673					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGATCCGCCACACAACTCC	0.498		NA	"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								False	0	True	4:153244139	0
RIMS2	9699	broad.mit.edu	37	8	105263381	105263381	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:105263381A>C	ENST00000507740.1	+	21	3499	c.3263A>C	c.(3262-3264)aAa>aCa	p.K1088T	RIMS2_ENST00000339750.2_Missense_Mutation_p.K210T|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113T|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292T|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1336					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACAAGGAAAAGTTTTACAG	0.368		NA								HNSCC(12;0.0054)			False	0	True	8:105263381	0
ZNF35	7584	broad.mit.edu	37	3	44700479	44700479	+	Silent	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:44700479C>T	ENST00000396056.2	+	4	859	c.624C>T	c.(622-624)ggC>ggT	p.G208G	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.G48G	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	208	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G208G(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TTAATTCTGGCGCTGTTAAAA	0.413		NA											False	0	False	3:44700479	0
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Splice_Site	SNP	G	G	A	rs35824014		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2410C>T	c.(2410-2412)Ccg>Tcg	p.P804S	DNMT3A_ENST00000402667.1_Splice_Site_p.P581S|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000321117.5_Splice_Site_p.P804S|DNMT3A_ENST00000380746.4_Splice_Site_p.P615S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582		NA	"""Mis, F, N, S"""		AML								False	0	False	2:25459873	0
STRIP2	57464	broad.mit.edu	37	7	129096387	129096387	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:129096387G>A	ENST00000249344.2	+	9	982	c.942G>A	c.(940-942)atG>atA	p.M314I	STRIP2_ENST00000435494.2_Missense_Mutation_p.M314I	NM_020704.2	NP_065755.1			striatin interacting protein 2	NA											NA						TGAAGAGCATGCGTGCTGCCT	0.597		NA											False	0	False	7:129096387	0
WRN	7486	broad.mit.edu	37	8	30924630	30924630	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAGTCTATCCGCTGTAGCAA	0.413		NA	"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:30924630	0
ACSL3	2181	broad.mit.edu	37	2	223782842	223782842	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:223782842C>A	ENST00000357430.3	+	6	1166	c.635C>A	c.(634-636)aCt>aAt	p.T212N	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T212N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	212					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AACATCATTACTAGTAAAGAA	0.373		NA	T	ETV1	prostate								False	0	False	2:223782842	0
MYL3	4634	broad.mit.edu	37	3	46902285	46902285	+	Missense_Mutation	SNP	C	C	T	rs139354105		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:46902285C>T	ENST00000395869.1	-	3	239	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MYL3_ENST00000292327.4_Missense_Mutation_p.R63H			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	63	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTTGGGTGTGCGGTCGAACAG	0.622		NA											False	0	False	3:46902285	0
HECW1	23072	broad.mit.edu	37	7	43590047	43590047	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43590047A>G	ENST00000395891.2	+	27	4857	c.4252A>G	c.(4252-4254)Acg>Gcg	p.T1418A	HECW1_ENST00000453890.1_Missense_Mutation_p.T1384A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	NA	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAAGGTCACGGAAAGGGA	0.507		NA											False	0	False	7:43590047	0
TTN	7273	broad.mit.edu	37	2	179431867	179431867	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:179431867C>T	ENST00000589042.1	-	326	79216	c.78992G>A	c.(78991-78993)cGa>cAa	p.R26331Q	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17458Q|TTN_ENST00000460472.2_Missense_Mutation_p.R17266Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24690Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23763Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17391Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24690	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGCAAGTCGACTGGTTTC	0.413		NA											False	0	False	2:179431867	0
LURAP1L	286343	broad.mit.edu	37	9	12821607	12821607	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr9:12821607G>A	ENST00000319264.3	+	2	1230	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	182											NA						TGGCATTTCCGTGGGAAGTTA	0.547		NA											False	0	False	9:12821607	0
LY86	9450	broad.mit.edu	37	6	6589102	6589102	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:6589102C>T	ENST00000379953.2	+	2	487	c.135C>T	c.(133-135)tgC>tgT	p.C45C	LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Splice_Site_p.C45C|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	45					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					ACCAGAGTTGCGGTAAGCCCT	0.587		NA											False	0	False	6:6589102	0
PSMB4	5692	broad.mit.edu	37	1	151372561	151372561	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:151372561G>A	ENST00000290541.6	+	2	299	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCGTTTCCGCAACATCTCT	0.562		NA											False	0	False	1:151372561	0
RNF8	9025	broad.mit.edu	37	6	37349011	37349011	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:37349011G>A	ENST00000373479.4	+	7	1515	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	441					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCCATTTGTCGGAAGGACATT	0.413		NA											False	0	False	6:37349011	0
NF1	4763	broad.mit.edu	37	17	29559101	29559101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:29559101C>T	ENST00000358273.4	+	25	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1070					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373		NA	"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29559101	0
SMAD4	4089	broad.mit.edu	37	18	48604705	48604705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr18:48604705G>A	ENST00000342988.3	+	12	2065	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.W413*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.W509*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.W509*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGAAAGGCTGGGGACCGGATT	0.473		NA											False	0	True	18:48604705	0
CMYA5	202333	broad.mit.edu	37	5	79029066	79029066	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:79029066A>G	ENST00000446378.2	+	2	4509	c.4478A>G	c.(4477-4479)gAc>gGc	p.D1493G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1493						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGGTAGAAGACAAACAAGAT	0.398		NA											False	0	True	5:79029066	0
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:43430101G>A	ENST00000446844.3	-	0	1156				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)	NA					female pregnancy	extracellular region					NA		Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448		NA											False	0	False	19:43430101	0
KIF21B	23046	broad.mit.edu	37	1	200950209	200950209	+	Silent	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:200950209C>T	ENST00000332129.2	-	28	4135	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	KIF21B_ENST00000422435.2_Silent_p.P1286P|KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000461742.2_Silent_p.P1286P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCAACCGGGGAGATGA	0.637		NA											False	0	True	1:200950209	0
HOXA4	3201	broad.mit.edu	37	7	27169037	27169037	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:27169037C>T	ENST00000360046.5	-	2	835	c.770G>A	c.(769-771)cGc>cAc	p.R257H	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R257H|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTTGACCTGGCGCTCAGACAA	0.572		NA											False	0	False	7:27169037	0
MUC2	4583	broad.mit.edu	37	11	1092201	1092201	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1092201G>A	ENST00000441003.2	+	30	4047	c.4020G>A	c.(4018-4020)tcG>tcA	p.S1340S	MUC2_ENST00000361558.6_Silent_p.S6S|MUC2_ENST00000359061.5_Silent_p.S1341S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1340						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTGCAGGTCGGTCAAGGATC	0.557		NA											False	0	True	11:1092201	0
OR2L8	391190	broad.mit.edu	37	1	248112663	248112663	+	Silent	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:248112663C>T	ENST00000357191.3	+	1	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCCTTATTGCCGATCCAGGG	0.473		NA											False	0	False	1:248112663	0
NCKAP5	344148	broad.mit.edu	37	2	133541374	133541374	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:133541374T>C	ENST00000409261.1	-	14	3383	c.3010A>G	c.(3010-3012)Atc>Gtc	p.I1004V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1004V|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1004							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAGTGAAGATAGGCTTTTTG	0.537		NA											False	0	False	2:133541374	0
GUCA1B	2979	broad.mit.edu	37	6	42152645	42152645	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:42152645G>T	ENST00000230361.3	-	4	606	c.511C>A	c.(511-513)Cgt>Agt	p.R171S		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	171	EF-hand 4.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTGTCCCGACGGGCACCTTCA	0.577		NA											False	0	True	6:42152645	0
NCAPH	23397	broad.mit.edu	37	2	97019996	97019996	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:97019996G>T	ENST00000455200.1	+	9	1340	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	NCAPH_ENST00000240423.4_Missense_Mutation_p.D360Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D224Y			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	360					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGACGAGAGTGACTGTGGAGA	0.512		NA											False	0	False	2:97019996	0
ZNF28	7576	broad.mit.edu	37	19	53304471	53304471	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:53304471G>C	ENST00000438150.2	-	2	1361	c.468C>G	c.(466-468)caC>caG	p.H156Q	ZNF28_ENST00000360272.4_Missense_Mutation_p.H156Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.H156Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.H209Q			P17035	ZNF28_HUMAN	zinc finger protein 28	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCATGTGTACATTCC	0.333		NA											False	0	False	19:53304471	0
KIDINS220	57498	broad.mit.edu	37	2	8891668	8891668	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:8891668C>A	ENST00000256707.3	-	23	3299	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1040					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCCACAAGAACTGGG	0.353		NA											False	0	False	2:8891668	0
UBB	7314	broad.mit.edu	37	17	16285542	16285542	+	Silent	SNP	G	G	A	rs17052364		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:16285542G>A	ENST00000302182.3	+	2	713	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537		NA											False	0	False	17:16285542	0
MOGS	7841	broad.mit.edu	37	2	74688883	74688883	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:74688883C>T	ENST00000233616.4	-	4	2195	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	MOGS_ENST00000452063.2_Missense_Mutation_p.R572Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	678					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGTTGGGGCCGACCCACCAC	0.597		NA											False	0	False	2:74688883	0
SGSM1	129049	broad.mit.edu	37	22	25264736	25264736	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr22:25264736C>T	ENST00000400358.4	+	12	1262	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	SGSM1_ENST00000400359.4_Missense_Mutation_p.A402V	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	402						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGGTTCTGCCGAGTCCACA	0.512		NA											False	0	False	22:25264736	0
RREB1	6239	broad.mit.edu	37	6	7230223	7230223	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:7230223G>A	ENST00000379938.2	+	10	2428	c.1891G>A	c.(1891-1893)Ggc>Agc	p.G631S	RREB1_ENST00000334984.6_Missense_Mutation_p.G631S|RREB1_ENST00000349384.6_Missense_Mutation_p.G631S|RREB1_ENST00000379933.3_Missense_Mutation_p.G631S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	631					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACAGCGCCCGGCGGCAAGAA	0.637		NA											False	0	True	6:7230223	0
PARP6	56965	broad.mit.edu	37	15	72557486	72557486	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr15:72557486G>A	ENST00000569795.1	-	7	951	c.264C>T	c.(262-264)gtC>gtT	p.V88V	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.V88V|PARP6_ENST00000260376.7_Silent_p.V88V			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	88							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTGTCCGGAGGACCTTCCAGG	0.473		NA											False	0	False	15:72557486	0
ACCS	84680	broad.mit.edu	37	11	44089316	44089316	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:44089316C>G	ENST00000263776.8	+	2	573	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.L47V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	47							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGCCAGAGCTCCGTGGAGT	0.552		NA											False	0	False	11:44089316	0
PRAMEF2	65122	broad.mit.edu	37	1	12920033	12920033	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:12920033G>A	ENST00000240189.2	+	3	860	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	258										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGTCACCAGATTCACCTCT	0.448		NA											False	0	False	1:12920033	0
ZNF761	388561	broad.mit.edu	37	19	53960290	53960290	+	RNA	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:53960290C>T	ENST00000454407.1	+	0	2982							Q86XN6	ZN761_HUMAN	zinc finger protein 761	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCGCACCTGGCACAACATGCT	0.438		NA											False	0	False	19:53960290	0
JAKMIP1	152789	broad.mit.edu	37	4	6107417	6107417	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:6107417G>A	ENST00000409021.3	-	3	856	c.407C>T	c.(406-408)gCg>gTg	p.A136V	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	136	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCTCGCGCGCCTCGGTCAG	0.706		NA											False	0	True	4:6107417	0
SQSTM1	8878	broad.mit.edu	37	5	179247944	179247944	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:179247944C>T	ENST00000389805.4	+	1	186	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	3	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTATGGCGTCGCTCACCGTG	0.711		NA											False	0	False	5:179247944	0
SLITRK5	26050	broad.mit.edu	37	13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.					integral to membrane		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567		NA											False	0	False	13:88329453	0
BLVRA	644	broad.mit.edu	37	7	43810766	43810766	+	Silent	SNP	A	A	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43810766A>T	ENST00000402924.1	+	3	172	c.9A>T	c.(7-9)gcA>gcT	p.A3A	BLVRA_ENST00000265523.4_Silent_p.A3A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	3			A -> T (in dbSNP:rs699512).		heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	AGATGAATGCAGAGGTGAGTT	0.463		NA											False	0	False	7:43810766	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388		NA											False	0	False	1:203821496	0
SLC8A1	6546	broad.mit.edu	37	2	40405540	40405540	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:40405540C>A	ENST00000542756.1	-	3	1925	c.1902G>T	c.(1900-1902)atG>atT	p.M634I	SLC8A1_ENST00000405901.3_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	634					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTTCTCACTCATCTCCACCA	0.507		NA											False	0	True	2:40405540	0
AOC1	26	broad.mit.edu	37	7	150553842	150553842	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:150553842G>A	ENST00000493429.1	+	4	868	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	AOC1_ENST00000416793.2_Missense_Mutation_p.R95Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R95Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R95Q					amine oxidase, copper containing 1	NA											NA						CATCCTGTGCGGGAAGCCCGT	0.567		NA											False	0	True	7:150553842	0
KLHL24	54800	broad.mit.edu	37	3	183368717	183368717	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:183368717G>A	ENST00000454652.2	+	4	959	c.573G>A	c.(571-573)gcG>gcA	p.A191A	KLHL24_ENST00000242810.6_Silent_p.A191A|KLHL24_ENST00000476808.1_Silent_p.A191A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	NA	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAATTTTGCGTTACAGACTT	0.368		NA											False	0	False	3:183368717	0
EPHA7	2045	broad.mit.edu	37	6	93967819	93967819	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:93967819C>T	ENST00000369303.4	-	11	2292	c.2108G>A	c.(2107-2109)aGa>aAa	p.R703K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	703	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATATCTACCTCTTGTAACAAC	0.343		NA											False	0	False	6:93967819	0
DMP1	1758	broad.mit.edu	37	4	88583927	88583927	+	Missense_Mutation	SNP	G	G	A	rs147275271	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:88583927G>A	ENST00000339673.6	+	6	1096	c.997G>A	c.(997-999)Gta>Ata	p.V333I	DMP1_ENST00000282479.7_Missense_Mutation_p.V317I|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	333					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCCAAAACGTAGATGGTCC	0.547		NA											False	0	False	4:88583927	0
CUL4A	8451	broad.mit.edu	37	13	113907464	113907464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:113907464G>A	ENST00000451881.1	+	16	1656	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	CUL4A_ENST00000375441.3_Nonsense_Mutation_p.W469*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.W469*|CUL4A_ENST00000375440.4_Nonsense_Mutation_p.W569*	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	569					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACTTCAGTGGCAAACTACTT	0.299		NA											False	0	False	13:113907464	0
PIGM	93183	broad.mit.edu	37	1	160000872	160000872	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:160000872T>C	ENST00000368090.2	-	1	911	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	220					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGCCTTTTCAGGAGCTCG	0.493		NA											False	0	True	1:160000872	0
PSMD8	5714	broad.mit.edu	37	19	38874009	38874009	+	Silent	SNP	G	G	A			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:38874009G>A	ENST00000215071.4	+	7	1098	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	PSMD8_ENST00000602911.1_Silent_p.R281R	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTATGCCCGGCAGCTGGAGA	0.562		NA											False	0	False	19:38874009	0
