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
IPO11	51194	broad.mit.edu	37	5	61733126	61733126	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:61733126G>T	uc011cqr.2	+	1	270	c.140G>T	c.(139-141)aGc>aTc	p.S47I	IPO11_uc003jtc.3_Missense_Mutation_p.S7I	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	7	Importin N-terminal.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AATAGTGCCAGCACTGTTGTT	0.403000													38	7					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13049506	13049506	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:13049506G>A	uc002mvu.2	+	0	93	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	5					cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTATCCGTGCCGCTGCT	0.711000											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	10					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772258	4772258	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:4772258G>A	uc001alm.1	+	1	709	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	AJAP1_uc001aln.3_Missense_Mutation_p.A110T	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	110					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCAGGCGGCCGCCCTCGTGCC	0.736000													12	3					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480144	10480144	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:10480144G>C	uc003wtc.3	-	1	797	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	190					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGAAAGCGCAGGAGATCT	0.512000													111	81					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913126	60913126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:60913126C>A	uc002ycq.3	-	13	1904	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.G613*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	613	Laminin EGF-like 6.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATGAGGTCCAGCAAACTCA	0.652000													42	13					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227369	28227369	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:28227369C>T	uc003nkt.3	+	0	272	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTCGCGAGGGCGGCTCCCAAG	0.612000													54	27					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148015	67148015	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:67148015C>T	uc001dcr.3	+	14	1495	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Silent_p.P193P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	426	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCGTCCCCCGGACCTGGCT	0.562000													158	154					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204835	72204835	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr13:72204835C>G	uc021rkj.1	-	2	1408	c.985G>C	c.(985-987)Gct>Cct	p.A329P	DACH1_uc021rkk.1_Missense_Mutation_p.A329P|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	327	Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A328A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgctgcagcggctgcTGTC	0.358000													42	82					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148385	70148385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:70148385C>T	uc004dyn.3	-	3	802	c.628G>A	c.(628-630)Gtt>Att	p.V210I	SLC7A3_uc004dyo.3_Missense_Mutation_p.V210I	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	210					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.F209F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCCCTTAACGAAGCCAGAG	0.507000													9	6					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021507	2021507	+	Silent	SNP	C	C	T	rs144735881		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:2021507C>T	uc003wpx.4	+	9	1185	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	349	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAAGGACGACGAGGGCCTGT	0.607000													48	25					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151490983	151490983	+	Splice_Site	SNP	A	A	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:151490983A>T	uc009wmw.3	+	2	131	c.-13_splice	c.e2-1			NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.							myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTCTAGGACTCCTCCTAT	0.502000													11	58					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671536	7671536	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7671536A>G	uc002giu.1	+	22	3906	c.3892A>G	c.(3892-3894)Agg>Ggg	p.R1298G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1298	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGTTCAAGAGGACCATGCC	0.572000													118	85					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31669903	31669903	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31669903G>C	uc003nvy.2	-	1	216	c.137C>G	c.(136-138)aCg>aGg	p.T46R	ABHD16A_uc003nvx.2_5'UTR|ABHD16A_uc011dny.2_Intron|ABHD16A_uc010jtc.2_Intron|ABHD16A_uc011dnz.2_5'UTR|ABHD16A_uc011doa.2_5'UTR|MIR4646_uc021yuw.1_5'Flank	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	46						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGATAGTACGTATCCTGCCA	0.557000													11	50					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161313	22161313	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:22161313C>T	uc009vqd.3	-	76	10622	c.10582G>A	c.(10582-10584)Ggg>Agg	p.G3528R	HSPG2_uc001bfj.3_Missense_Mutation_p.G3527R	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3527	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCAGGTGCCCTCCAACTTTG	0.637000													35	41					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	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	199					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76091051	76091051	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr14:76091051G>A	uc001xrs.2	+	2	1284	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	FLVCR2_uc010tvd.1_Missense_Mutation_p.R98Q	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	303					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCATCGCCCGGCTCTTCAAA	0.483000													83	2					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307309	14307309	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr9:14307309G>A	uc022bdo.1	-	1	776	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIB_uc003zlf.3_Missense_Mutation_p.R81C|NFIB_uc003zle.3_Missense_Mutation_p.R81C|NFIB_uc022bdp.1_Missense_Mutation_p.R107C|NFIB_uc011lmo.2_Missense_Mutation_p.R81C	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	81					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.R81C(3)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATCTTTGCGCAGTTTGGCA	0.493000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								32	7					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15978005	15978005	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:15978005C>T	uc002dec.1	-	1	91	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	FOPNL_uc002ded.1_Missense_Mutation_p.R29Q	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	Homo sapiens FGFR1OP N-terminal like (FOPNL), mRNA.	29	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AACTTCAGCTCGGATCCTTGC	0.358000													19	22					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80141803	80141803	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:80141803C>T	uc002kdx.1	-	7	1095	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	CCDC57_uc010dik.1_5'UTR|CCDC57_uc002kdz.1_Missense_Mutation_p.R353H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	353										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCATCTTCACGAAGTCTAAA	0.468000													17	23					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261508	21261508	+	Silent	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:21261508C>A	uc010bwp.1	+	1	664	c.621C>A	c.(619-621)atC>atA	p.I207I	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	207										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTTTCAAGATCAAGTTCAAGA	0.473000													3	42					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476601	35476601	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:35476601C>T	uc001byh.3	-	8	1327	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	ZMYM6_uc001byf.1_Missense_Mutation_p.A367T|ZMYM6_uc010oht.2_Missense_Mutation_p.A270T|ZMYM6_uc009vup.3_Missense_Mutation_p.A173T|ZMYM6_uc009vuq.1_Missense_Mutation_p.A367T|ZMYM6_uc009vur.1_Missense_Mutation_p.A173T	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	367					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.A367A(2)|p.A367V(1)|p.A367E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGGGCACCGCCGAAGAGTTT	0.458000													20	43					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144093533	144093533	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:144093533C>T	uc010khi.3	+	6	1570	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	PHACTR2_uc003qjq.4_Silent_p.D446D|PHACTR2_uc010khh.3_Silent_p.D366D|PHACTR2_uc003qjr.4_Silent_p.D377D	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	446							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGACTCGGACGGGCCTATCT	0.517000													25	21					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	G	C	rs28526603	by1000genomes	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:16974745G>C	uc010och.2	+	6		c.1205G>C			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGGAACCGGAGGGCCGGGG	0.711000													4	37					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65418862	65418862	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:65418862G>A	uc011moz.2	+	10	2155	c.2018G>A	c.(2017-2019)cGg>cAg	p.R673Q	HEPH_uc004dwn.3_Missense_Mutation_p.R622Q|HEPH_uc004dwo.3_Missense_Mutation_p.R352Q|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Missense_Mutation_p.R622Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	619	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTCCAATCGGATGCATGGT	0.448000													42	47					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146243850	146243850	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:146243850A>G	uc003qlf.3	-	18	4067	c.3668T>C	c.(3667-3669)aTt>aCt	p.I1223T	SHPRH_uc003qle.3_Missense_Mutation_p.I1227T|SHPRH_uc003qlg.1_Missense_Mutation_p.I779T|SHPRH_uc003qlh.3_Missense_Mutation_p.I148T|SHPRH_uc003qli.1_Missense_Mutation_p.I148T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1223					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCAGACTCAATAACATTACG	0.413000													47	21					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	48					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661386	227661386	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:227661386G>T	uc021vxn.1	-	0	2069	c.2069C>A	c.(2068-2070)cCt>cAt	p.P690H	IRS1_uc002voh.4_Missense_Mutation_p.P690H	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	690					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V689F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGTCCCGGAAGGGACGGCGTt	0.627000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	59					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701648	31701648	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31701648A>C	uc003nwr.3	-	2	504	c.240T>G	c.(238-240)atT>atG	p.I80M		NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	80	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAATTCCTCAATCTTGTTGG	0.562000													103	54					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40990780	40990780	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:40990780G>C	uc002ibq.3	+	6	703	c.477G>C	c.(475-477)agG>agC	p.R159S	PSME3_uc002ibp.3_Missense_Mutation_p.R85S|PSME3_uc002ibr.3_Missense_Mutation_p.R146S|PSME3_uc002ibs.3_Missense_Mutation_p.R157S|PSME3_uc010whd.2_Missense_Mutation_p.R33S	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	146					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGATTCCCAGGATAGAAGATG	0.458000													51	45					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631178	99631178	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:99631178G>C	uc003usk.1	+	5	1269	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	ZKSCAN1_uc003usl.1_Missense_Mutation_p.K314N|ZKSCAN1_uc003usm.1_Missense_Mutation_p.K137N	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	350					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAGGGAGAAGGGGAAAGGAT	0.473000													15	23					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768821	121768821	+	Silent	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:121768821T>C	uc003pyr.3	+	1	1078	c.828T>C	c.(826-828)gcT>gcC	p.A276A	GJA1_uc011ebo.1_Silent_p.A177A|GJA1_uc011ebp.1_Silent_p.A64A|GJA1_uc021zel.1_Silent_p.A276A	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	276					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CACCAACCGCTCCCCTCTCGC	0.512000													17	55					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000													3	20					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48395912	48395912	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:48395912G>A	uc021ths.1	-	0	428	c.428C>T	c.(427-429)gCt>gTt	p.A143V	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Missense_Mutation_p.A174V|SIAH1_uc002efo.1_Missense_Mutation_p.A143V|LOC100507577_uc021tht.1_Non-coding_Transcript	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	143	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGGCATTACAGCATCCAGAGA	0.468000													3	41					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987870	98987870	+	Silent	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:98987870C>G	uc001tfo.3	+	1	234	c.114C>G	c.(112-114)ggC>ggG	p.G38G	SLC25A3_uc001tfm.3_Silent_p.G38G|SLC25A3_uc001tfn.3_Silent_p.G38G|SLC25A3_uc001tfp.3_Silent_p.G38G|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Silent_p.G38G|SLC25A3_uc001tfs.3_5'UTR	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGCCCACGGGCCAGCCCCGCC	0.697000													14	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7578291T>G	uc002gim.2	-	6	754	c.560_splice	c.e6-1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCCAGACCTAAGAGCAATC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			58	6					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	A	T	rs116382006	by1000genomes	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438000													4	60					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9760429	9760429	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:9760429G>T	uc010sgt.2	-	0	69	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily B, member 1 (KLRB1), mRNA.	3					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						ATTGCTTGTTGGTCCATGGCA	0.438000													42	81					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84801887	84801887	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:84801887C>T	uc010voe.2	+	11	2184	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	USP10_uc002fii.3_Missense_Mutation_p.R641C|USP10_uc010vof.2_Missense_Mutation_p.R203C|USP10_uc002fij.3_Missense_Mutation_p.R167C	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	641					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGACAAGATACGCACAGTCCA	0.428000													10	7					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177190223	177190223	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:177190223G>T	uc003iuq.2	-	0	151	c.37C>A	c.(37-39)Caa>Aaa	p.Q13K		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	13					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGGATAATTGTTGAGCAAAC	0.423000													28	40					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293798	62293798	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:62293798C>A	uc001ntl.3	-	4	8391	c.8091G>T	c.(8089-8091)atG>atT	p.M2697I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2697					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCTGGCATCTTGAACT	0.458000													145	77					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41984100	41984100	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:41984100C>G	uc001cgz.4	-	6	6656	c.5443G>C	c.(5443-5445)Gtg>Ctg	p.V1815L	HIVEP3_uc001cha.4_Missense_Mutation_p.V1815L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1815					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCCAGCACCCCTGTCTCT	0.522000													42	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597447	179597447	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:179597447T>G	uc021vsy.1	-	53	12836	c.12611_splice	c.e53-1	p.E4204_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E865_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5131							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)			TGGGTGGTTCTGAAGAAGGGG	0.398000													10	10					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271916	1271916	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:1271916G>A	uc002ckw.2	-	5	840	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	280					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGGAGCCTGGGGTACCCAGAC	0.652000													20	20					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	4					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48929638	48929638	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:48929638G>A	uc011mmt.2	-	7	941	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	WDR45_uc004dmi.3_Missense_Mutation_p.R143C			Q9Y484	WIPI4_HUMAN	Homo sapiens PRA1 domain family, member 2 (PRAF2), mRNA.	117					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TTAAGGTTGCGCAGGCGCAAC	0.602000													26	34					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850499	43850499	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:43850499C>A	uc010ggz.3	+	1	283	c.226C>A	c.(226-228)Cat>Aat	p.H76N	SEMG2_uc002xnk.3_Missense_Mutation_p.H76N|SEMG2_uc002xnl.3_Missense_Mutation_p.H76N	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	76	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CATCAATGATCATGACTGGAC	0.378000													4	185					0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292785	102292785	+	Missense_Mutation	SNP	C	C	G	rs61084368		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr15:102292785C>G	uc010usj.2	+	3	432	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													4	38					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1650844	1650844	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:1650844C>T	uc001agv.1	-	3	361	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.R59Q|CDK11B_uc001agw.1_Missense_Mutation_p.R59Q|CDK11B_uc001agy.1_Missense_Mutation_p.R93Q|CDK11B_uc001agx.1_Missense_Mutation_p.R93Q|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.R93Q|CDK11B_uc009vks.3_Missense_Mutation_p.R93Q|CDK11B_uc010nys.2_Missense_Mutation_p.R93Q|CDK11B_uc010nyt.1_Missense_Mutation_p.R93Q|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Missense_Mutation_p.R93Q|CDK11B_uc009vku.1_Missense_Mutation_p.R93Q|CDK11B_uc009vkv.1_Missense_Mutation_p.R93Q|CDK11B_uc001aht.1_Missense_Mutation_p.R93Q|CDK11B_uc001ahu.1_Missense_Mutation_p.R93Q|CDK11B_uc001ahv.1_Missense_Mutation_p.R93Q|CDK11B_uc001ahw.1_Missense_Mutation_p.R93Q	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	93			R -> W (in dbSNP:rs1059831).		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TTTTTCTTTCCGAGACATTTG	0.398000													94	172					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681482	144681482	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:144681482C>T	uc003yyx.2	+	0	1409	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	470					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGGTGCAGGCGGGCAGCATT	0.706000													11	17					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278581	100278581	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:100278581A>G	uc004egt.3	-	7	1047	c.634T>C	c.(634-636)Tct>Cct	p.S212P	TRMT2B_uc004egu.3_Missense_Mutation_p.S93P|TRMT2B_uc004egr.3_Missense_Mutation_p.S212P|TRMT2B_uc004egv.3_Missense_Mutation_p.S167P|TRMT2B_uc004egq.3_Missense_Mutation_p.S212P|TRMT2B_uc004egs.3_Missense_Mutation_p.S212P	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAATGGAGACTGTCGAAGG	0.443000													32	26					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611523	7611523	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7611523C>G	uc002gis.3	+	1	767	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	124					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TAGCCCTAATCTCTGGGGCCA	0.577000													44	115					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67164804	67164804	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:67164804G>C	uc001okr.3	+	9	1120	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RAD9A_uc021qmg.1_Missense_Mutation_p.E267Q	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	343	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCACTCCGAGGAGGAAGATGA	0.642000								Other conserved DNA damage response genes					4	12					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:141625828G>A	uc002tvj.1	-	25	5146	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F	LRP1B_uc010fnl.1_Missense_Mutation_p.L574F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1392					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)		GTCCAGAAAAGAATTCTaaaa	0.353000										TSP Lung(27;0.18)			7	23					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111436563	111436563	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:111436563T>C	uc003iab.4	+	7	1816	c.1474T>C	c.(1474-1476)Tgg>Cgg	p.W492R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	492					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTTGAAGACTGGATAAAACC	0.308000													23	19					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995214	183995214	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:183995214C>T	uc003fni.4	+	3	830	c.792C>T	c.(790-792)agC>agT	p.S264S	ECE2_uc011brg.1_Silent_p.S192S|ECE2_uc011brh.1_Silent_p.S117S|ECE2_uc003fnl.4_Silent_p.S192S|ECE2_uc003fnm.4_Silent_p.S146S|ECE2_uc003fnk.4_Silent_p.S117S|ECE2_uc011bri.1_Silent_p.S179S|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	264	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTCAACAGCCTCTGGGACC	0.612000													17	45					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	678	678	+	RNA	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrGL000237.1:678A>G	uc011mgu.1	-	1		c.540T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ACCCCAGGCCAGGCCGGGCCC	0.627000													2	0					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250487	140250487	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:140250487C>T	uc003lia.2	+	0	2657	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.S600L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	614	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACTCAGGCTACAAC	0.662000													140	16					0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785247	22785247	+	RNA	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:22785247C>T	uc002nqu.4	+	6		c.1423C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GCCCCAGCCCCAGGGACTGGG	0.672000													4	4					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115402734	115402734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:115402734G>A	uc001lal.3	-	11	1338	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NRAP_uc001laj.3_Nonsense_Mutation_p.Q392*|NRAP_uc001lak.3_Intron	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	392						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCCTGAATTGAGGTGTTTCA	0.408000													21	66					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987608	154987608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:154987608C>T	uc001fgj.4	+	4	859	c.574C>T	c.(574-576)Cga>Tga	p.R192*	ZBTB7B_uc009wpa.3_Nonsense_Mutation_p.R158*|ZBTB7B_uc001fgk.4_Nonsense_Mutation_p.R158*|ZBTB7B_uc010peq.2_Nonsense_Mutation_p.R192*|ZBTB7B_uc001fgl.4_Nonsense_Mutation_p.R158*	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	158	Pro-rich.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P192P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACTGTGAGCGAGCCCGCCA	0.637000													33	109					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977863	13977863	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:13977863G>T	uc021ylw.1	+	2	1006	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RNF182_uc021ylx.1_Missense_Mutation_p.W171C|RNF182_uc003nbe.3_Missense_Mutation_p.W171C|RNF182_uc003nbf.3_Missense_Mutation_p.W171C|RNF182_uc003nbg.3_Missense_Mutation_p.W171C|RNF182_uc021yly.1_Missense_Mutation_p.W171C	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	171						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGACTGTGTGGAACTGCACGT	0.517000													51	144					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736712	141736712	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:141736712C>T	uc003vwy.3	+	17	2220	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	722	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTGCCCTACCTATACACCC	0.507000													94	44					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580958	145580958	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:145580958G>T	uc003ijs.2	+	3	1479	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	HHIP_uc003ijr.2_Missense_Mutation_p.D267Y	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	267						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTTATTTGGACATTCACAA	0.363000													60	55					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737296	4737296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:4737296C>A	uc001qnb.4	-	3	1016	c.772G>T	c.(772-774)Gga>Tga	p.G258*		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	258					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAACCTTCCACCCTCTCTG	0.458000													33	188					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153215	105153215	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:105153215G>A	uc004emd.3	+	12	1885	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	NRK_uc010npc.1_Missense_Mutation_p.E196K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	528	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGGTACCCGAACAACAAAG	0.552000										HNSCC(51;0.14)			26	22					0	0	1	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165215	39165215	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:39165215G>T	uc002hvt.1	-	0	152	c.112C>A	c.(112-114)Cat>Aat	p.H38N		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	Homo sapiens keratin associated protein 3-1 (KRTAP3-1), mRNA.	38	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTGATCTCATGTGGGCAGGTG	0.602000													28	86					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:4944606C>T	uc002cyd.1	-	11	1346	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647000													24	35					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43021941	43021941	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:43021941A>C	uc009vwk.1	+	4	650	c.540A>C	c.(538-540)aaA>aaC	p.K180N	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	180										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATATGAAAGATGAAGAAA	0.443000													24	16					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793392	109793394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:109793392_109793394delTTC	uc001dxa.4	+	0	752_754	c.691_693delTTC	c.(691-693)ttcdel	p.F232del		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	232	Cadherin 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCAACCAGTTCTTCTCCCTGG	0.616													18	38	---	---	---	---					
FAM82B	51115	broad.mit.edu	37	8	87498823	87498824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:87498823_87498824insT	uc003ydu.3	-	3	544_545	c.384_385insA	c.(382-387)gtagctfs	p.V128fs	FAM82B_uc011lfz.2_Frame_Shift_Ins_p.V128fs|FAM82B_uc011lga.2_Frame_Shift_Ins_p.V128fs	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	128						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTAAGCTGAGCTACATCACGTG	0.371													25	40	---	---	---	---					
ATE1	11101	broad.mit.edu	37	10	123503221	123503236	+	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	CGGAGCACTTCTGCCC	-	rs146965571	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	uc001lfp.3	-	11	1598_1613	c.1516_1531delGGGCAGAAGTGCTCCG	c.(1516-1533)gggcagaagtgctccgagfs	p.G506fs	ATE1_uc001lfq.3_Frame_Shift_Del_p.G506fs|ATE1_uc010qtr.2_Frame_Shift_Del_p.G391fs|ATE1_uc010qts.2_Frame_Shift_Del_p.G410fs|ATE1_uc010qtt.2_Frame_Shift_Del_p.G499fs|ATE1_uc001lfr.3_Frame_Shift_Del_p.G207fs|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	506					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGCATCCGCTCGGAGCACTTCTGCCCCACCAGGCTG	0.519													14	50	---	---	---	---					
FIGNL2	401720	broad.mit.edu	37	12	52215105	52215105	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:52215105delC	uc001rzc.3	-	1	1265	c.1093delG	c.(1093-1095)gagfs	p.E365fs		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	Homo sapiens fidgetin-like 2 (FIGNL2), mRNA.	365							ATP binding|nucleoside-triphosphatase activity								BRCA - Breast invasive adenocarcinoma(357;0.135)		TTGGGAGTCTCCCCCGACGGC	0.721													2	4	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	301	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			8	8	---	---	---	---					
