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
ZMYM1	79830	broad.mit.edu	37	1	35580838	35580841	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:35580838_35580841delTCAG	uc001bym.3	+	9	3553_3556	c.3407_3410delTCAG	c.(3406-3411)atcagtfs	p.I1136fs	ZMYM1_uc001byn.3_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.2_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.3_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.3_Frame_Shift_Del_p.I1061fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1136						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAAGTTTATCAGTCAGATGAAA	0.348												
GNG5	2787	broad.mit.edu	37	1	84967630	84967630	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:84967630C>A	uc001djw.4	-	2	459	c.105G>T	c.(103-105)ttG>ttT	p.L35F		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	35					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGAACTGTTTCAAGTCTGCAG	0.433												
SPAG17	200162	broad.mit.edu	37	1	118539227	118539227	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:118539227A>T	uc001ehk.2	-	32	4984	c.4916T>A	c.(4915-4917)gTc>gAc	p.V1639D	SPAG17_uc021osr.1_Missense_Mutation_p.V149D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1639						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTACCTGGGGACATGTTCACC	0.299												
BCL9	607	broad.mit.edu	37	1	147092093	147092093	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:147092093T>G	uc001epq.3	+	7	2872	c.2132T>G	c.(2131-2133)aTg>aGg	p.M711R	BCL9_uc010ozr.1_Missense_Mutation_p.M637R	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	711	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAGTTTGGGATGGTTCCTAGT	0.527			T	"""IGH@, IGL@"""	B-ALL							
KPRP	448834	broad.mit.edu	37	1	152732521	152732521	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:152732521T>G	uc001fal.1	+	1	515	c.457T>G	c.(457-459)Tat>Gat	p.Y153D	KPRP_uc021ozf.1_Missense_Mutation_p.Y153D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	153	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCCAGAACTATGTACCCTG	0.512												
NPR1	4881	broad.mit.edu	37	1	153657481	153657481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:153657481G>A	uc001fcs.4	+	7	1947	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	NPR1_uc010pdz.2_Missense_Mutation_p.R255Q|NPR1_uc010pea.2_Missense_Mutation_p.R13Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	509					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCTGTGGCGGGTGCGCTGG	0.647												
C1orf198	84886	broad.mit.edu	37	1	230979428	230979428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:230979428C>T	uc001hub.3	-	2	643	c.599G>A	c.(598-600)gGg>gAg	p.G200E	C1orf198_uc009xfh.2_Missense_Mutation_p.G70E|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.G162E	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	200										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCCCCTCCCCTCGGGACCG	0.632												
OR2M3	127062	broad.mit.edu	37	1	248366725	248366725	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:248366725C>A	uc010pzg.2	+	0	356	c.356C>A	c.(355-357)gCt>gAt	p.A119D		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGTTATGGCTTATGACCGC	0.463												
CDHR1	92211	broad.mit.edu	37	10	85962739	85962739	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr10:85962739G>T	uc001kcv.3	+	7	748	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CDHR1_uc001kcw.3_Missense_Mutation_p.G215C|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	215	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTGCAGGATGGCGGTGGGAG	0.557												
AHNAK	79026	broad.mit.edu	37	11	62286891	62286891	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:62286891C>G	uc001ntl.3	-	4	15298	c.14998G>C	c.(14998-15000)Gtt>Ctt	p.V5000L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5000					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)				GCCTCAGGAACAGTGACATCC	0.433												
MTMR2	8898	broad.mit.edu	37	11	95580911	95580911	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:95580911G>A	uc001pfu.3	-	9	1399	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	MTMR2_uc001pfv.3_Silent_p.N310N|MTMR2_uc001pfs.3_Silent_p.N310N|MTMR2_uc001pft.3_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	382	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGATTCCAAGTTAGACAACC	0.368												
SCN3B	55800	broad.mit.edu	37	11	123513193	123513193	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:123513193T>C	uc001pza.1	-	3	813	c.406A>G	c.(406-408)Aag>Gag	p.K136E	SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	136	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGCGTCGTCTTCACAAAGGGC	0.592												
EFCAB4B	84766	broad.mit.edu	37	12	3788105	3788105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:3788105A>G	uc010sen.1	-	5	1072	c.500T>C	c.(499-501)cTt>cCt	p.L167P	EFCAB4B_uc001qmj.2_Missense_Mutation_p.L167P	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	167					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGGCTCCAAGTCTGTCCAT	0.517												
NDUFA9	4704	broad.mit.edu	37	12	4771765	4771765	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:4771765T>C	uc001qnc.3	+	5	648	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	NDUFA9_uc009zei.2_Missense_Mutation_p.F207L|NDUFA9_uc010ses.2_5'UTR	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	207					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GTCGGACATCTTTGGAAGAGA	0.393												
PLEKHA5	54477	broad.mit.edu	37	12	19285373	19285373	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:19285373A>T	uc001reb.3	+	2	324	c.216A>T	c.(214-216)agA>agT	p.R72S	PLEKHA5_uc010sie.2_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.3_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.R72S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	72	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTGCAAGATACTATATAA	0.313												
H3F3C	440093	broad.mit.edu	37	12	31944878	31944878	+	Missense_Mutation	SNP	C	C	T	rs141415515		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:31944878C>T	uc001rkr.3	-	0	298	c.223G>A	c.(223-225)Gcg>Acg	p.A75T		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	75					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AAATCCTGCGCGATCTCCCTC	0.587										HNSCC(67;0.2)		
OR6C75	390323	broad.mit.edu	37	12	55759176	55759176	+	Silent	SNP	G	G	T	rs113253007		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:55759176G>T	uc010spk.2	+	0	282	c.282G>T	c.(280-282)ggG>ggT	p.G94G		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94W(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTATAATGGGTGTGTGGCTC	0.448												
SMARCC2	6601	broad.mit.edu	37	12	56578637	56578637	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:56578637C>G	uc001skb.3	-	4	589	c.483G>C	c.(481-483)aaG>aaC	p.K161N	SMARCC2_uc001skd.3_Missense_Mutation_p.K161N|SMARCC2_uc001ska.3_Missense_Mutation_p.K161N|SMARCC2_uc001skc.3_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.2_Missense_Mutation_p.K50N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	161					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTGGTGTCTCTTGATAATGT	0.418												
MARCH9	92979	broad.mit.edu	37	12	58152353	58152353	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:58152353C>A	uc001spx.2	+	3	1145	c.714C>A	c.(712-714)atC>atA	p.I238I	MARCH9_uc001spy.3_Silent_p.I125I	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	238						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGCCTCATCATCCATGAAG	0.478												
IFNG	3458	broad.mit.edu	37	12	68552011	68552011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:68552011T>C	uc001stw.1	-	1	269	c.143A>G	c.(142-144)aAt>aGt	p.N48S		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	48					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGAGTTCCATTATCCGCTAC	0.308												
CNOT2	4848	broad.mit.edu	37	12	70732228	70732228	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732228G>C	uc001svv.3	+	9	1488	c.906G>C	c.(904-906)ttG>ttC	p.L302F	CNOT2_uc009zro.3_Missense_Mutation_p.L302F|CNOT2_uc009zrp.3_Missense_Mutation_p.L282F|CNOT2_uc009zrq.3_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	302					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTAGAATTTGAATACATCTG	0.294												
CNOT2	4848	broad.mit.edu	37	12	70732315	70732315	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732315G>C	uc001svv.3	+	9	1575	c.993G>C	c.(991-993)caG>caC	p.Q331H	CNOT2_uc009zro.3_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.3_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.3_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	331					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATAACCAGCAGAAAAAAGGGA	0.338												
FSCB	84075	broad.mit.edu	37	14	44974567	44974567	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:44974567C>A	uc001wvn.3	-	0	1933	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	542	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTGAGCTTCAGCAGGA	0.493												
ACTN1	87	broad.mit.edu	37	14	69349203	69349203	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:69349203A>C	uc001xkl.3	-	15	2235	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	ACTN1_uc001xkk.3_Missense_Mutation_p.I238S|ACTN1_uc010ttb.2_Missense_Mutation_p.I577S|ACTN1_uc001xkm.3_Missense_Mutation_p.I642S|ACTN1_uc001xkn.3_Missense_Mutation_p.I642S|ACTN1_uc010ttc.2_Missense_Mutation_p.I227S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	642	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGGCCCGATGACATTGGC	0.642												
ACOT4	122970	broad.mit.edu	37	14	74060458	74060458	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:74060458C>A	uc001xoo.3	+	1	764	c.510C>A	c.(508-510)ctC>ctA	p.L170L		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	170					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423												
MAPKBP1	23005	broad.mit.edu	37	15	42107465	42107465	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr15:42107465C>T	uc001zok.4	+	11	1483	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	MAPKBP1_uc010bci.3_Silent_p.P393P|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Silent_p.P393P|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	399										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGTCTACCCCGAGGTGAAGG	0.572												
SLC9A5	6553	broad.mit.edu	37	16	67298319	67298319	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr16:67298319T>G	uc002esm.3	+	12	1970	c.1907T>G	c.(1906-1908)gTc>gGc	p.V636G	SLC9A5_uc010cee.3_Missense_Mutation_p.V341G|SLC9A5_uc010vji.2_Missense_Mutation_p.V140G	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	636					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.V636G(2)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GACAAGGAGGTCTTCCAGCAG	0.587												
CAMKK1	84254	broad.mit.edu	37	17	3772866	3772866	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:3772866G>A	uc002fwv.3	-	14	1518	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	CAMKK1_uc002fwt.3_Missense_Mutation_p.S419L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S419L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	419	Calmodulin-binding (By similarity).				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S419L(1)|p.S457L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTCCTCCGAAGGAAGGGG	0.632												
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591												
MED13	9969	broad.mit.edu	37	17	60061549	60061549	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:60061549C>A	uc002izo.3	-	14	2948	c.2871G>T	c.(2869-2871)atG>atT	p.M957I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	957					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAATGGCATTGAAGGCC	0.378												
CBX8	57332	broad.mit.edu	37	17	77769275	77769275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:77769275G>A	uc002jxd.2	-	4	447	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	110					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCCTGGGGCGAGCGGCCAGG	0.657												
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:14543019T>C	uc010dln.3	-	0	581	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	43								p.M43I(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587												
INO80C	125476	broad.mit.edu	37	18	33077703	33077703	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:33077703A>T	uc010dmt.3	-	0	253	c.136T>A	c.(136-138)Tcc>Acc	p.S46T	INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.4_5'Flank|INO80C_uc002kyy.4_Missense_Mutation_p.S46T	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	46					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGGAAGCGGACGCTTTTTTC	0.672												
POLI	11201	broad.mit.edu	37	18	51820790	51820790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:51820790G>A	uc002lfj.4	+	9	2244	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	POLI_uc010xds.2_Missense_Mutation_p.A647T|POLI_uc002lfk.4_Missense_Mutation_p.A623T|POLI_uc010dpg.3_Missense_Mutation_p.A322T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	726					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.A726T(1)|p.A701T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGAACTGCTGGCAGAGTGGAA	0.388								DNA polymerases (catalytic subunits)				
DUS3L	56931	broad.mit.edu	37	19	5790075	5790075	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:5790075A>C	uc002mdc.3	-	1	467	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	124					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGAGGGACACAGCCTGTTC	0.607												
ADAMTS10	81794	broad.mit.edu	37	19	8651442	8651442	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:8651442C>A	uc002mkj.1	-	20	2677	c.2403_splice	c.e20+1	p.M801_splice	ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDC37	11140	broad.mit.edu	37	19	10506731	10506731	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:10506731A>T	uc002mof.1	-	1	367	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	84					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCGGCCTGCAGGCGCTCCAG	0.662												
CC2D1A	54862	broad.mit.edu	37	19	14029731	14029731	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:14029731C>A	uc002mxo.2	+	9	1324	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	342	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGAGGTGCCCCCACCCCCG	0.672												
MYO9B	4650	broad.mit.edu	37	19	17212559	17212559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:17212559G>A	uc010eak.3	+	1	184	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MYO9B_uc002nfi.3_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	11	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCTCGGGCCGCCGGGAGCAG	0.692												
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:50155916_50155918delCCT	uc002poq.3	+	6	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcctcc>gcc	p.S763del		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	763	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.690												
C2orf16	84226	broad.mit.edu	37	2	27799823	27799823	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:27799823G>A	uc002rkz.4	+	0	435	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	128										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGGGCATCAGTTTGCAAAAT	0.403												
MAP4K3	8491	broad.mit.edu	37	2	39560698	39560698	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:39560698T>G	uc002rro.3	-	6	523	c.432A>C	c.(430-432)ttA>ttC	p.L144F	MAP4K3_uc002rrp.3_Missense_Mutation_p.L144F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	144	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATTATCCGTTAATAGAATGT	0.274												
BCL11A	53335	broad.mit.edu	37	2	60688972	60688972	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:60688972G>C	uc002sae.1	-	3	1303	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	BCL11A_uc002sab.3_Missense_Mutation_p.P359A|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	359	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGAGGGAGGGGGGGCGTCGCC	0.632			T	IGH@	B-CLL							
GPR45	11250	broad.mit.edu	37	2	105859160	105859160	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:105859160C>T	uc002tco.1	+	0	961	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	282						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGGCTGCCCCACTCCGTC	0.592												
HCK	3055	broad.mit.edu	37	20	30661155	30661155	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:30661155A>T	uc002wxh.3	+	2	454	c.217A>T	c.(217-219)Atc>Ttc	p.I73F	HCK_uc010gdy.3_Missense_Mutation_p.I53F|HCK_uc021wbv.1_Missense_Mutation_p.I52F|HCK_uc002wxi.3_Missense_Mutation_p.I52F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	73					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.H72Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACACCAGGAATCAGGGAGGG	0.512												
R3HDML	140902	broad.mit.edu	37	20	42973947	42973947	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:42973947C>T	uc002xls.1	+	3	730	c.558C>T	c.(556-558)acC>acT	p.T186T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	186						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582												
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		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)				CCCGTCTTCACGTACAGAAGA	0.393												
LZTR1	8216	broad.mit.edu	37	22	21349003	21349003	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:21349003T>G	uc002zto.3	+	14	1875	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	LZTR1_uc002ztn.3_Missense_Mutation_p.L550R|LZTR1_uc011ahy.2_Missense_Mutation_p.L572R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	591					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGCTGCAGCTGAGCCAACTC	0.667												
PPIL2	23759	broad.mit.edu	37	22	22042378	22042378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:22042378C>A	uc010gtj.1	+	13	1120	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PPIL2_uc002zvh.4_Missense_Mutation_p.P335H|PPIL2_uc002zvi.4_Missense_Mutation_p.P335H|PPIL2_uc002zvg.4_Missense_Mutation_p.P335H|PPIL2_uc011aij.2_Missense_Mutation_p.P314H|PPIL2_uc002zvk.4_Missense_Mutation_p.P81H	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	335	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGGGGCGACCCCACAGGCACA	0.642												
PRRT3	285368	broad.mit.edu	37	3	9989638	9989638	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr3:9989638G>A	uc003bul.2	-	3	1349	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	407	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGACTGGGGGTGCTGGGGGA	0.607												
MUC7	4589	broad.mit.edu	37	4	71346565	71346565	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:71346565A>G	uc011cat.2	+	3	392	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MUC7_uc011cau.2_Missense_Mutation_p.H35R|MUC7_uc003hfj.3_Missense_Mutation_p.H35R	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	35						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAAGGCATCATCACCAATCA	0.383												
RASGEF1B	153020	broad.mit.edu	37	4	82380500	82380500	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:82380500C>A	uc003hmi.1	-	1	307	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.3_Missense_Mutation_p.D55Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	55	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGATAGTAATCCACATTAGGT	0.443												
FNIP2	57600	broad.mit.edu	37	4	159790265	159790265	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:159790265C>G	uc003iqe.4	+	12	2660	c.2477C>G	c.(2476-2478)gCa>gGa	p.A826G		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	826	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCCACGGTGCAGGAGGAACG	0.607												
NEK1	4750	broad.mit.edu	37	4	170345795	170345795	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:170345795C>A	uc003isd.2	-	30	3709	c.3131G>T	c.(3130-3132)cGa>cTa	p.R1044L	NEK1_uc003ise.2_Missense_Mutation_p.R1000L|NEK1_uc003isb.2_Missense_Mutation_p.R1016L|NEK1_uc003isc.2_Missense_Mutation_p.R972L|NEK1_uc003isf.2_Missense_Mutation_p.R947L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1016					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CGAGTGAGATCGAAATGCAAA	0.398												
SLC9A3	6550	broad.mit.edu	37	5	481703	481703	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:481703G>A	uc003jbe.2	-	8	1606	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC9A3_uc011clx.1_Silent_p.I489I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	498						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582												
NSUN2	54888	broad.mit.edu	37	5	6600309	6600309	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:6600309G>A	uc003jdu.3	-	18	2415	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	NSUN2_uc003jdt.3_Silent_p.C442C|NSUN2_uc011cmk.2_Silent_p.C643C|NSUN2_uc003jdv.3_Silent_p.C442C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	678						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCCGCCATCCGCATAAGACGA	0.458												
MYO10	4651	broad.mit.edu	37	5	16668401	16668401	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:16668401G>A	uc003jft.4	-	39	6528	c.6060C>T	c.(6058-6060)ctC>ctT	p.L2020L	MYO10_uc011cnb.2_Silent_p.L649L|MYO10_uc011cnc.2_Silent_p.L899L|MYO10_uc011cnd.2_Silent_p.L1377L|MYO10_uc011cne.2_Silent_p.L1377L|MYO10_uc010itx.3_Silent_p.L1642L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	2020	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTTTCAAAGAGCAGCTCCC	0.463												
HIST1H2AA	221613	broad.mit.edu	37	6	25726579	25726579	+	Silent	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:25726579G>T	uc003nfc.3	-	0	212	c.177C>A	c.(175-177)ctC>ctA	p.L59L	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCTGCTGTGAGATACTCTA	0.537												
PSMB8	5696	broad.mit.edu	37	6	32811722	32811722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:32811722C>T	uc003oce.3	-	0	95	c.52G>A	c.(52-54)Gct>Act	p.A18T	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Missense_Mutation_p.A18T|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	18					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						ACCGGGAGAGCCGATTCCGGC	0.637												
SCUBE3	222663	broad.mit.edu	37	6	35210070	35210072	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:35210070_35210072delGAG	uc003okf.1	+	12	1513_1515	c.1507_1509delGAG	c.(1507-1509)gagdel	p.E504del	SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	504					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCAAAACAGAGGAGGCTGGCA	0.547												
CPVL	54504	broad.mit.edu	37	7	29152433	29152433	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:29152433C>T	uc003szv.3	-	2	294	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CPVL_uc003szw.3_Missense_Mutation_p.E59K|CPVL_uc003szx.3_Missense_Mutation_p.E59K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	59					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAACTCAATTCTCTTCCTAGT	0.418												
MYO1G	64005	broad.mit.edu	37	7	45016656	45016656	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:45016656C>T	uc003tmh.2	-	1	254	c.110G>A	c.(109-111)cGc>cAc	p.R37H	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	37	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTGTAGATGCGGCCCTTCTC	0.637												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
POM121	9883	broad.mit.edu	37	7	72413475	72413475	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:72413475G>A	uc003twk.2	+	10	2943	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	POM121_uc003twj.3_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	981	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCCACCGGGGGCCGCCAAGC	0.652												
ZC3HAV1L	92092	broad.mit.edu	37	7	138719356	138719356	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:138719356A>G	uc003vum.1	-	1	446	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	145										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GAGACCAAAAAGTCCATGGCT	0.483												
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr8:10467546C>T	uc003wtc.3	-	3	4291	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1354					intracellular signal transduction			p.A1354A(2)		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)		cctctaactgcgcctcttctt	0.478												
CDC37L1	55664	broad.mit.edu	37	9	4679887	4679887	+	Silent	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:4679887C>G	uc003zio.3	+	0	322	c.120C>G	c.(118-120)ggC>ggG	p.G40G		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	40	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGCTGCCAGGCGGCGGCGCCC	0.682											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA2026	158358	broad.mit.edu	37	9	5922764	5922764	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:5922764G>T	uc003zjq.4	-	7	3448	c.3232C>A	c.(3232-3234)Ctt>Att	p.L1078I	KIAA2026_uc010mht.3_Missense_Mutation_p.L253I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1078										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATTTTGAAGATCTATTGGC	0.418												
C9orf131	138724	broad.mit.edu	37	9	35044886	35044886	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:35044886T>C	uc003zvw.3	+	1	2289	c.2260T>C	c.(2260-2262)Tgc>Cgc	p.C754R	C9orf131_uc003zvu.3_Missense_Mutation_p.C706R|C9orf131_uc003zvv.3_Missense_Mutation_p.C681R|C9orf131_uc003zvx.3_Missense_Mutation_p.C719R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	754										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAGTAACGTGCCCAGGGGT	0.587												
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:43915893G>C	uc004ada.2	+	22	4151	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I	CNTNAP3B_uc004adb.3_Missense_Mutation_p.M161I	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433												
FBP1	2203	broad.mit.edu	37	9	97380079	97380079	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:97380079C>T	uc004auw.4	-	2	728	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FBP1_uc010mrl.3_Missense_Mutation_p.V133I	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	133					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGGTTCCAACGGACACAAGG	0.388												
ZFX	7543	broad.mit.edu	37	X	24229156	24229156	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:24229156A>C	uc011mjv.2	+	9	2447	c.2198A>C	c.(2197-2199)cAt>cCt	p.H733P	ZFX_uc004dbd.2_Missense_Mutation_p.H694P|ZFX_uc004dbf.3_Missense_Mutation_p.H694P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H694P|ZFX_uc010nfx.2_Missense_Mutation_p.H465P|ZFX_uc010nfz.3_Missense_Mutation_p.H350P	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAGTGTAGACATTGTGACTTT	0.433												
HDAC6	10013	broad.mit.edu	37	X	48681101	48681101	+	Silent	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:48681101A>C	uc011mmi.1	+	23	2504	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	803					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P803P(4)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587												
IL1RAPL2	26280	broad.mit.edu	37	X	105011638	105011638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:105011638C>T	uc004elz.1	+	10	2801	c.2045C>T	c.(2044-2046)aCc>aTc	p.T682I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	682					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGCTTTACCAGTGATATT	0.393												
L1CAM	3897	broad.mit.edu	37	X	153141260	153141260	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:153141260A>C	uc004fjb.3	-	0	140	c.32T>G	c.(31-33)cTc>cGc	p.L11R	L1CAM_uc004fjc.3_Missense_Mutation_p.L11R|L1CAM_uc010nuo.3_Missense_Mutation_p.L11R|L1CAM_uc022chz.1_Missense_Mutation_p.L11R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	11					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGGAGAGGCCACAC	0.682											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay