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
AFF1	4299	broad.mit.edu	37	4	88047294	88047294	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:88047294C>A	uc011ccz.2	+	13	2892	c.2617C>A	c.(2617-2619)Ccc>Acc	p.P873T	AFF1_uc003hqj.4_Missense_Mutation_p.P866T|AFF1_uc003hqk.4_Missense_Mutation_p.P866T|AFF1_uc011cda.2_Missense_Mutation_p.P504T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	866	Poly-Ser.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAATGCTCCCCCCGCCACC	0.577000													5	83					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128721004	128721004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrX:128721004C>A	uc004euq.3	+	19	2330	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	OCRL_uc004eur.3_Missense_Mutation_p.P714H|OCRL_uc010nrb.3_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	722	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.P722S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAAATGGTTCCTTTGGATGAA	0.428000													6	165					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291319	62291319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:62291319C>A	uc001ntl.3	-	4	10870	c.10570G>T	c.(10570-10572)Gga>Tga	p.G3524*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3524					nervous system development	nucleus	protein binding	p.E3523K(1)		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)				TTCAAGCCTCCCTCCGGACCT	0.483000													6	167					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000047	3000047	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr8:3000047G>T	uc022aqr.1	-	40	6571	c.6181C>A	c.(6181-6183)Ctc>Atc	p.L2061I	CSMD1_uc011kwj.2_Missense_Mutation_p.L1454I|CSMD1_uc010lrg.3_Missense_Mutation_p.L130I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2062	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGATGAGGGTTTCATGC	0.468000													4	43					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234360616	234360616	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:234360616G>T	uc002vui.1	+	17	2186	c.2174G>T	c.(2173-2175)cGg>cTg	p.R725L	DGKD_uc002vuj.1_Missense_Mutation_p.R681L|DGKD_uc010fyh.1_Missense_Mutation_p.R592L|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	725					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGATGTCCGGGCTGGAATG	0.507000													4	88					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24524344	24524344	+	Splice_Site	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr14:24524344G>T	uc001wlj.2	+	7	688	c.531_splice	c.e7+1	p.W177_splice		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	177										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGTTCAATGGGTATGTTGG	0.572000													5	106					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566136	19566136	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:19566136C>T	uc002wrl.3	+	5	757	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	187						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A187A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGGCTCAGCGGTATTCAAC	0.527000													10	288					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113633582	113633582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:113633582C>A	uc001tuu.3	-	2	1014	c.842G>T	c.(841-843)cGg>cTg	p.R281L		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	274										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GTTGATCTCCCGCTCTTCCCG	0.597000													6	146					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219991	78219991	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:78219991C>A	uc002jyb.2	+	11	1442	c.1136C>A	c.(1135-1137)gCg>gAg	p.A379E	SLC26A11_uc002jyc.2_Missense_Mutation_p.A379E|SLC26A11_uc002jyd.2_Missense_Mutation_p.A379E|SLC26A11_uc010dhv.2_Missense_Mutation_p.A379E	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	379						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	p.A379V(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCACCCCGGCGGGGGGCCTG	0.667000													5	137					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91680446	91680446	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:91680446C>A	uc004aqf.2	-	5	1140	c.833G>T	c.(832-834)aGa>aTa	p.R278I		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	278	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCGCTTACCTCTGCGATTAAC	0.448000													7	294					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160388827	160388827	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:160388827G>T	uc001fwb.2	+	4	527	c.228G>T	c.(226-228)acG>acT	p.T76T	VANGL2_uc001fwc.2_Silent_p.T76T	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	76					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTAGTAACGGGCACCTCAG	0.567000													4	115					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758199	121758199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:121758199G>A	uc001uag.3	-	11	1626	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	ANAPC5_uc010szu.2_Nonsense_Mutation_p.Q168*|ANAPC5_uc001uae.3_Nonsense_Mutation_p.Q66*|ANAPC5_uc010szv.2_Nonsense_Mutation_p.Q104*|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Nonsense_Mutation_p.Q390*	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	502					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGGCGTGCTGACTATTAGGC	0.383000													9	77					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19964981	19964981	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:19964981C>A	uc002zqz.3	-	8	2097	c.1827G>T	c.(1825-1827)cgG>cgT	p.R609R	ARVCF_uc002zqy.3_Silent_p.R131R	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	609	Poly-Arg.				cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CATCCCGCCTCCGGCGCTGGG	0.662000													5	92					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23652049	23652049	+	Silent	SNP	G	G	T	rs145219683		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr14:23652049G>T	uc001wiz.3	-	0	801	c.75C>A	c.(73-75)ccC>ccA	p.P25P	SLC7A8_uc010akj.3_Silent_p.P25P	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	25					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AACCAGCCTCGGGGCTGGCGT	0.577000													6	222					0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91969071	91969071	+	RNA	SNP	T	T	C	rs115299304	by1000genomes	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:91969071T>C	uc010fho.1	+	1		c.1402T>C								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GAGAGACTGATCCTGCTGCGG	0.602000													7	22					0	0	1	0	0
BCL7C	9274	broad.mit.edu	37	16	30904217	30904217	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:30904217C>A	uc021tgq.1	-	2	358	c.224G>T	c.(223-225)cGg>cTg	p.R75L	BC073928_uc002dzu.3_Intron|BCL7C_uc002dzv.3_Missense_Mutation_p.R75L|MIR762_uc021tgs.1_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	Homo sapiens B-cell CLL/lymphoma 7C (BCL7C), mRNA.	75					apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GCCCCTGCCCCGACGTTCCCG	0.652000													5	149					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22657653	22657653	+	RNA	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:22657653C>A	uc021wml.1	+	26		c.1984C>A			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AATCGGGCCCCGATACTCAGG	0.498000													4	57					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35751280	35751280	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:35751280T>G	uc011lpf.2	+	5	653	c.505T>G	c.(505-507)Ttt>Gtt	p.F169V	GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|DQ589555_uc022bgn.1_5'Flank	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA.	169								p.R168R(1)|p.R168W(1)		cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATGTCCGGTTTCCCCAGGA	0.512000													32	338					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17365107	17365107	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:17365107T>C	uc001ipd.3	-	6	685	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	229					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATTTGTTTTACTGCCAACA	0.333000													25	50					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62240850	62240850	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:62240850T>G	uc003dlb.3	+	15	3238	c.2519T>G	c.(2518-2520)cTc>cGc	p.L840R	PTPRG_uc003dlc.3_Missense_Mutation_p.L811R|PTPRG_uc011bfi.2_Missense_Mutation_p.L86R	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	840					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCGGTGAGCTCTATTCTAAT	0.368000													34	60					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505409	44505409	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:44505409G>T	uc002xqd.3	+	1	457	c.212G>T	c.(211-213)cGg>cTg	p.R71L	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R65L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	71							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAGAGAACGCGGGAGGCAGAC	0.478000													4	91					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294599	62294599	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:62294599C>A	uc001ntl.3	-	4	7590	c.7290G>T	c.(7288-7290)gaG>gaT	p.E2430D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2430					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)				CCTCTGGTCCCTCAATGTCAA	0.468000													5	74					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051751	4051751	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:4051751C>A	uc003smx.3	+	15	2443	c.2304C>A	c.(2302-2304)ccC>ccA	p.P768P	SDK1_uc010kso.3_Silent_p.P44P	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	768	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGAACCACCCAGTGCTCCCC	0.507000													7	294					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953941	130953941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:130953941C>A	uc002tqv.3	-	1	108	c.7G>T	c.(7-9)Gag>Tag	p.E3*		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GAGATACACTCGCGCTGTGAA	0.438000													4	112					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163913	161163913	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:161163913C>A	uc001fyt.4	-	4	1788	c.1360G>T	c.(1360-1362)Ggg>Tgg	p.G454W		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	454	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.G454W(3)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGTCGGGCCCGAAGGTCAGC	0.602000													4	122					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158873	39158873	+	Silent	SNP	G	G	A	rs144931567		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:39158873G>A	uc003oon.3	-	4	1657	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	431					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.D431D(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632000													4	38					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000													4	28					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111965991	111965991	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:111965991G>T	uc004bdz.1	-	18	2193	c.1898C>A	c.(1897-1899)cCg>cAg	p.P633Q		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	633						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.P633P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTTACAAACGGTGATTCCTC	0.368000													4	74					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132195457	132195457	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:132195457A>G	uc011ecf.2	+	15	1635	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D	ENPP1_uc003qcy.3_Missense_Mutation_p.N169D	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	539	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.L539P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGCTCTGACAATGTATTTTC	0.279000													39	67					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696637	47696637	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:47696637A>G	uc002ipg.3	-	3	608	c.311T>C	c.(310-312)tTc>tCc	p.F104S	SPOP_uc010dbk.3_Missense_Mutation_p.F104S|SPOP_uc002ipb.3_Missense_Mutation_p.F104S|SPOP_uc002ipc.3_Missense_Mutation_p.F104S|SPOP_uc002ipd.3_Missense_Mutation_p.F104S|SPOP_uc002ipe.3_Missense_Mutation_p.F104S|SPOP_uc002ipf.3_Missense_Mutation_p.F104S	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	104	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.K103N(1)|p.F104I(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGATGGAGAATTTGAATTT	0.408000										Prostate(2;0.17)			44	73					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69261790	69261790	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrX:69261790G>T	uc004dxt.1	-	6	876	c.870C>A	c.(868-870)ccC>ccA	p.P290P		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	290						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TCTCAATCTTGGGCATTGGTA	0.483000													5	50					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239107	32239107	+	Splice_Site	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:32239107C>A	uc003jhq.3	-	13	1514	c.1344_splice	c.e13+1	p.E448_splice	MTMR12_uc010iuk.3_Splice_Site_p.E448_splice|MTMR12_uc010iul.3_Splice_Site_p.E448_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	448	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGGAACTCACCTCCTCTTTGT	0.483000													4	43					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102141	102141	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrGL000209.1:102141C>T	uc021vdb.1	+	2	87	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.R26C	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	26					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCTAGGATTCCGCAGAAAACC	0.502000													11	99					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44672663	44672663	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:44672663C>A	uc003cnm.3	+	2	706	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	ZNF197_uc003cnn.3_Missense_Mutation_p.P167Q|ZNF197_uc003cno.3_Non-coding_Transcript|ZNF197_uc003cnp.3_Missense_Mutation_p.P167Q	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAATTTGCCCGCATCCTCCT	0.527000													5	129					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16007796	16007796	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr8:16007796C>A	uc010lsu.3	-	6	1041	c.977G>T	c.(976-978)cGg>cTg	p.R326L	MSR1_uc003wwz.3_Missense_Mutation_p.R308L|MSR1_uc003wxa.3_Missense_Mutation_p.R308L|MSR1_uc003wxb.3_Missense_Mutation_p.R308L|MSR1_uc011kxz.2_Missense_Mutation_p.R82L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	308	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.R308L(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATTGCTCCCCGATCACCTTT	0.373000													4	61					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438924	120438924	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:120438924C>A	uc021vnk.1	+	0	495	c.495C>A	c.(493-495)acC>acA	p.T165T	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.T165T|TMEM177_uc002tmc.1_Silent_p.T165T|TMEM177_uc002tmd.2_Silent_p.T165T|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	165						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AAAGCAGTACCACTGCCGTGC	0.667000													5	84					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7592189	7592189	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:7592189C>A	uc010vuh.2	+	1	378	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	WRAP53_uc010vui.2_Missense_Mutation_p.L75I|WRAP53_uc002gip.3_Missense_Mutation_p.L75I|WRAP53_uc002gir.3_Missense_Mutation_p.L75I|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.L75I|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	75					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCAGTTTCTCTCTCCACTCC	0.582000													6	156					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971223	57971223	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:57971223T>C	uc010rkb.2	-	0	431	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N144N(2)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGTTGTATAGTTCAGAGGGTG	0.463000													14	100					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570696	198570696	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:198570696G>T	uc002uuq.3	+	0	669	c.567G>T	c.(565-567)tcG>tcT	p.S189S	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	189					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CGGGCCCATCGGGGGATTCGT	0.582000													5	97					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:140502262C>T	uc003lip.1	+	0	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R228*(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542000													6	123					0	0	1	0	0
MGC16703	113691	broad.mit.edu	37	22	21363694	21363694	+	RNA	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:21363694C>A	uc002zty.4	-	2		c.762G>T			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		GTGCCGCCCCCAAAGCTGTGG	0.587000													4	48					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67941433	67941433	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrX:67941433C>A	uc004dxb.3	+	9	2518	c.2304C>A	c.(2302-2304)ccC>ccA	p.P768P	STARD8_uc004dxa.3_Silent_p.P688P|STARD8_uc004dxc.4_Silent_p.P688P	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	688	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TGCTGCTCCCCGATGAGAACC	0.562000													4	59					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392629	74392629	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:74392629C>A	uc002jrm.4	-	13	2454	c.2389G>T	c.(2389-2391)Ggg>Tgg	p.G797W	UBE2O_uc002jrn.4_Missense_Mutation_p.G797W|UBE2O_uc002jrl.4_Missense_Mutation_p.G401W	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	797							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCCATCAGCCCGGCCATGGGG	0.632000													6	287					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32162599	32162599	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:32162599G>T	uc001btk.1	-	7	1194	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	COL16A1_uc001btj.1_Missense_Mutation_p.R106S|COL16A1_uc001btl.4_Missense_Mutation_p.R277S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	277	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGAAGCAGCGGGTGTAGACC	0.607000													5	159					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480527	140480527	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:140480527C>A	uc003lio.3	+	0	294	c.294C>A	c.(292-294)ccC>ccA	p.P98P	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	98	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGCGGCCCCACAGAACCAT	0.443000													5	126					0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61907896	61907896	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:61907896G>T	uc002yem.3	+	3	347	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	ARFGAP1_uc011aas.1_Missense_Mutation_p.G26W|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Missense_Mutation_p.G79W|ARFGAP1_uc002yen.3_Missense_Mutation_p.G79W	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	79	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding	p.G79W(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAAAGCTGGTGGGAATGCTAA	0.517000													8	44					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768172	110768172	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:110768172C>A	uc003puf.3	-	2	622	c.555G>T	c.(553-555)ttG>ttT	p.L185F	SLC22A16_uc003pue.3_Missense_Mutation_p.L166F	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	185					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTGTGGCCCACAAGACCACCC	0.443000													13	21					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26655317	26655317	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:26655317C>A	uc001bmd.4	-	15	4512	c.4362G>T	c.(4360-4362)gaG>gaT	p.E1454D		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	409							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCTCCTTCCCCTCGAAGCACT	0.592000													6	101					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50791109	50791109	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:50791109G>T	uc001zym.4	+	20	3681	c.3181G>T	c.(3181-3183)Ggt>Tgt	p.G1061C	USP8_uc001zyl.4_Missense_Mutation_p.G1061C|USP8_uc001zyn.4_Missense_Mutation_p.G1061C|USP8_uc010ufh.2_Missense_Mutation_p.G955C|USP8_uc001zyp.4_Missense_Mutation_p.G228C	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	1061					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAATCACTACGGTGGGCTGGA	0.358000													5	70					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573606	57573606	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:57573606C>A	uc001snd.3	+	29	5474	c.5008C>A	c.(5008-5010)Cga>Aga	p.R1670R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1670					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTCTCCCGAAACCTGTT	0.587000													4	153					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961822	1961822	+	Silent	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:1961822G>A	uc002cnf.3	-	1	705	c.705C>T	c.(703-705)ttC>ttT	p.F235F	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	235										endometrium(2)|lung(2)	4						TCAGGCCCAGGAAGTCCTGCA	0.667000													13	143					0	0	1	0	0
SAP30L	79685	broad.mit.edu	37	5	153830749	153830749	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:153830749C>A	uc003lvk.3	+	1	948	c.300C>A	c.(298-300)ccC>ccA	p.P100P	SAP30L_uc003lvm.4_Non-coding_Transcript|SAP30L_uc011ddc.2_Intron|SAP30L_uc011ddd.2_Intron|SAP30L_uc003lvl.3_Non-coding_Transcript	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Homo sapiens SAP30-like (SAP30L), transcript variant 1, mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGATTCTCCCGAGCACGACA	0.453000													4	56					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176332409	176332409	+	Silent	SNP	G	G	T	rs147884049		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:176332409G>T	uc021yil.1	-	14	2201	c.2034C>A	c.(2032-2034)ccC>ccA	p.P678P	UIMC1_uc021yim.1_Silent_p.P678P|UIMC1_uc021yin.1_Silent_p.P678P|UIMC1_uc003mfd.2_Silent_p.P308P	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	678					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACTTGACGGGAGATTCAT	0.478000													5	119					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70723332	70723332	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:70723332C>T	uc001svv.3	+	4	950	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CNOT2_uc009zro.3_Missense_Mutation_p.T123M|CNOT2_uc009zrp.3_Missense_Mutation_p.T103M|CNOT2_uc009zrq.3_Missense_Mutation_p.T123M	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	123					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			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)			TCACTTCACACGCCTCCATCT	0.398000													24	50					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783134	115783134	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:115783134G>T	uc003krx.4	-	19	3028	c.2319C>A	c.(2317-2319)ccC>ccA	p.P773P	SEMA6A_uc010jck.3_Silent_p.P756P|SEMA6A_uc011cwe.2_Silent_p.P135P|SEMA6A_uc003krv.4_Silent_p.P183P|SEMA6A_uc003krw.4_Silent_p.P233P|SEMA6A_uc010jcj.3_Silent_p.P300P	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	756					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACTCTGGGGTGGGGAGGGCCG	0.627000													7	208					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113354541	113354541	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:113354541C>A	uc001tuc.3	+	3	988	c.882C>A	c.(880-882)ccC>ccA	p.P294P	OAS1_uc010syn.2_Silent_p.P293P|OAS1_uc010syo.2_3'UTR|OAS1_uc001tub.3_Silent_p.P294P|OAS1_uc001tud.3_Silent_p.P294P|OAS1_uc009zwf.3_Silent_p.P293P	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	294					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TCACGAAACCCAGGTATGCTA	0.463000													4	47					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55900076	55900076	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:55900076G>T	uc002rzf.2	-	8	871	c.818C>A	c.(817-819)cCt>cAt	p.P273H		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	273					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAACTTCTGAGGTGTCCTCTT	0.363000													6	161					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43182346	43182346	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:43182346C>A	uc002ihz.3	+	10	1470	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	484					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GGAAATGCCCCAGCATGGGGG	0.552000													4	47					0	0	1	0	0
LOC654342	654342	broad.mit.edu	37	2	91843517	91843517	+	RNA	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:91843517C>T	uc002sts.4	-	1		c.53G>A			LOC654342_uc010yub.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA.																		GCTTGGGGGTCTGGCCAGCAG	0.582000													24	61					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8140171	8140171	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:8140171A>C	uc002mjf.3	-	58	7595	c.7578T>G	c.(7576-7578)tgT>tgG	p.C2526W	FBN3_uc002mje.3_Intron	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2526	EGF-like 41; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTACCTTCACAGCCATGGC	0.602000													22	40					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101299847	101299847	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr8:101299847G>T	uc003yjj.1	-	2	873	c.556C>A	c.(556-558)Cat>Aat	p.H186N	RNF19A_uc003yjk.1_Missense_Mutation_p.H186N|RNF19A_uc003yjl.1_Missense_Mutation_p.H186N	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	186					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CGAATATCATGGGGATTAAAC	0.378000													5	115					0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195959365	195959365	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:195959365C>T	uc003fwd.3	+	7	1057	c.856C>T	c.(856-858)Cct>Tct	p.P286S	OSTalpha_uc010iac.1_Missense_Mutation_p.P170S|OSTalpha_uc003fwe.3_Missense_Mutation_p.P153S	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	286						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGCTTGTTCGCCTCCCTATTC	0.552000													7	86					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766075	17766075	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:17766075C>A	uc002grz.4	-	10	1329	c.1172G>T	c.(1171-1173)aGa>aTa	p.R391I	TOM1L2_uc002gry.4_Missense_Mutation_p.R341I|TOM1L2_uc010vwy.2_Missense_Mutation_p.R338I|TOM1L2_uc010cpr.3_Missense_Mutation_p.R346I|TOM1L2_uc010vwz.2_Missense_Mutation_p.R243I|TOM1L2_uc010vxa.2_Missense_Mutation_p.R293I|TOM1L2_uc002grv.4_Missense_Mutation_p.R124I	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	391					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGAGTTTCCTCTCGTCTGGGC	0.547000													9	263					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107075813	107075813	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:107075813G>T	uc001tlt.3	+	4	525	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.G120W|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.G129W|RFX4_uc001tlv.3_5'Flank|LOC100505978_uc001tlu.3_Non-coding_Transcript	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	120					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAGAAGACTCGGGACCCGAGG	0.522000													5	146					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877454	156877454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:156877454C>A	uc001fqj.1	+	6	813	c.697C>A	c.(697-699)Cat>Aat	p.H233N	PEAR1_uc009wsl.1_Missense_Mutation_p.H34N|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	233	EGF-like 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCAGCACCCATTCTTGCCA	0.592000													7	262					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508447	37508447	+	Nonsense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:37508447T>G	uc021ppc.1	+	33	3738	c.3639T>G	c.(3637-3639)taT>taG	p.Y1213*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Y1213*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTCAATTATGCAGGAGATG	0.373000													3	36					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621162	41621162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:41621162C>A	uc003oqq.4	+	4	797	c.590C>A	c.(589-591)tCg>tAg	p.S197*	MDFI_uc010jxn.3_Nonsense_Mutation_p.S197*	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	197	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCGGAGGACTCGTGCCTCTGC	0.652000													5	112					0	0	1	0	0
C19orf10	56005	broad.mit.edu	37	19	4660712	4660712	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:4660712C>A	uc002may.3	-	3	407	c.338G>T	c.(337-339)cGg>cTg	p.R113L		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	113						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		CTCAGCGCCCCGCACCTCTGC	0.622000													4	87					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648420	153648420	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrX:153648420C>A	uc010nuy.3	+	6	645	c.645C>A	c.(643-645)ccC>ccA	p.P215P	TAZ_uc004fkx.3_Silent_p.P211P|TAZ_uc004fky.3_Silent_p.P197P|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Silent_p.P181P|TAZ_uc004flb.3_Silent_p.P167P|TAZ_uc004flc.4_Silent_p.P142P	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	211					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATCCTGCCCCTGTGGCATG	0.642000													5	87					0	0	1	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782276	27782276	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:27782276C>A	uc003njn.1	-	0	243	c.243G>T	c.(241-243)ccG>ccT	p.P81P	HIST1H2BM_uc003njo.3_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	Homo sapiens histone cluster 1, H2aj (HIST1H2AJ), mRNA.	81					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						GGAGGTGACGCGGGATGATGC	0.647000													4	82					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878072	44878072	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:44878072C>A	uc001clv.1	+	1	663	c.303C>A	c.(301-303)ccC>ccA	p.P101P	RNF220_uc001clw.1_Silent_p.P101P	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	101					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATTTGCTCCCCCAAATCTAG	0.547000													9	237					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107880413	107880413	+	Silent	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:107880413T>C	uc022aka.1	-	0	202	c.96A>G	c.(94-96)gtA>gtG	p.V32V	NRCAM_uc011kmk.2_Silent_p.V32V|NRCAM_uc003vfd.3_Silent_p.V32V|NRCAM_uc003vfe.3_Silent_p.V32V|NRCAM_uc003vfc.3_Silent_p.V32V	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	32					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCAAGAGGTACTTCCAGTG	0.458000													16	152					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982906	131982906	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:131982906G>T	uc003vra.4	-	3	1676	c.1447C>A	c.(1447-1449)Cgg>Agg	p.R483R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	483	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCATATCCCGGAGGACTGGG	0.577000													4	106					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21960903	21960903	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr14:21960903C>A	uc001waz.3	+	6	1231	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P	TOX4_uc001way.3_Silent_p.P246P|TOX4_uc010tlu.2_Silent_p.P353P|TOX4_uc010tlv.2_Silent_p.P246P	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	376						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AAATGTTGCCCTCTTCTATTA	0.488000													6	163					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94174937	94174937	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:94174937C>A	uc003uni.4	+	11	1784	c.1557C>A	c.(1555-1557)ccC>ccA	p.P519P	CASD1_uc003unj.4_Silent_p.P519P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	519						integral to membrane		p.P519S(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTTTGTCCCCTTGGTCACTG	0.333000													5	86					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183532430	183532430	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:183532430C>A	uc001gqj.4	-	12	1465	c.1190G>T	c.(1189-1191)cGg>cTg	p.R397L	NCF2_uc010pod.2_Missense_Mutation_p.R352L|NCF2_uc010poe.2_Missense_Mutation_p.R316L|NCF2_uc001gqk.4_Missense_Mutation_p.R397L	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	397	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATTGCTGTCCCGAGGCCGATA	0.522000													5	111					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324731	103324731	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:103324731G>T	uc002tca.3	+	11	2364	c.2222G>T	c.(2221-2223)cGa>cTa	p.R741L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	741						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GATTCTGGCCGAGATATGCCC	0.542000													4	145					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911358	53911358	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:53911358C>A	uc010ydx.2	+	5	877	c.550C>A	c.(550-552)Cct>Act	p.P184T	ZNF765_uc002qbm.3_Missense_Mutation_p.P184T|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTCTTGTAGGCCTGAAACCCA	0.353000													7	83					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412884	19412884	+	RNA	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr13:19412884T>C	uc010tcj.1	-	0		c.33226A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCAATATCTGTCTTCAAAATG	0.269000													4	136					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26752933	26752933	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:26752933C>A	uc001bmj.3	+	3	728	c.614C>A	c.(613-615)cCg>cAg	p.P205Q	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	205					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACCCTGCTCCCGGAGGCACAG	0.542000													3	33					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360254	16360254	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:16360254C>A	uc002wpg.2	-	18	2552	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L	KIF16B_uc002wpe.1_Missense_Mutation_p.R180L|KIF16B_uc002wpf.1_Missense_Mutation_p.R180L|KIF16B_uc010gch.2_Missense_Mutation_p.R798L|KIF16B_uc010gci.2_Missense_Mutation_p.R798L|KIF16B_uc010gcj.2_Missense_Mutation_p.R809L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	798	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGATTCCCGAATGCCTTC	0.577000													5	89					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28511696	28511696	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:28511696A>G	uc002heu.3	+	6	709	c.681A>G	c.(679-681)atA>atG	p.I227M	NSRP1_uc002hev.3_Missense_Mutation_p.I173M|NSRP1_uc010wbl.2_Missense_Mutation_p.I173M|NSRP1_uc010wbm.2_Missense_Mutation_p.I173M|NSRP1_uc002hex.3_Missense_Mutation_p.I173M	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	227					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAAACAGAATACCACAAGAGA	0.368000													3	51					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670318	99670318	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:99670318C>A	uc002bup.3	+	4	1870	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K	SYNM_uc002buo.3_Missense_Mutation_p.Q584K|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	585	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAAGTATCCCAGGACAGAAG	0.547000													5	67					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107160756	107160756	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrX:107160756C>A	uc004enl.3	+	6	1795	c.1222C>A	c.(1222-1224)Cga>Aga	p.R408R	MID2_uc004enk.3_Silent_p.R408R	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	408	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ACCATCTATCCGAGAAGAACT	0.438000													6	219					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53453874	53453874	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:53453874G>T	uc001sbp.3	+	17	2584	c.2449G>T	c.(2449-2451)Ggg>Tgg	p.G817W	TENC1_uc001sbl.3_Missense_Mutation_p.G693W|TENC1_uc001sbn.3_Missense_Mutation_p.G827W|TENC1_uc001sbq.3_Intron|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.G312W	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	817	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGAGGGCAGAGGGTATCCCAG	0.617000													4	42					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	966384	966384	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:966384G>A	uc021qss.1	+	4	2012	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	WNK1_uc001qio.4_Missense_Mutation_p.E457K|WNK1_uc021qst.1_Missense_Mutation_p.E457K|WNK1_uc001qip.4_Missense_Mutation_p.E457K	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	457	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAAATTATTGAAGGATGCAT	0.373000													23	29					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26551956	26551956	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:26551956G>T	uc001rhg.3	-	53	7966	c.7549C>A	c.(7549-7551)Cga>Aga	p.R2517R	ITPR2_uc009zjg.1_Silent_p.R668R	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TAAACCACTCGGGCAGCAAAC	0.333000													3	16					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138384046	138384046	+	Splice_Site	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:138384046C>A	uc011bmq.2	-	18	2505	c.2505_splice	c.e18-1	p.R835_splice	PIK3CB_uc011bmn.2_Splice_Site_p.R347_splice|PIK3CB_uc011bmo.2_Splice_Site_p.R286_splice|PIK3CB_uc011bmp.2_Splice_Site_p.R422_splice	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	835	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCAACATCCTGGAAGGAAA	0.353000													4	32					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455451	27455451	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:27455451C>A	uc003zqn.3	-	1	594	c.98G>T	c.(97-99)cGg>cTg	p.R33L		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	33							metal ion binding|protein binding										TGCCTGAGCCCGTTTGTGCAG	0.557000													7	174					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71877572	71877572	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:71877572C>A	uc010qjg.2	-	4	628	c.612G>T	c.(610-612)ctG>ctT	p.L204L	AIFM2_uc021psi.1_Silent_p.L204L|AIFM2_uc001jqp.2_Silent_p.L204L	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	204					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACGTACTCAGCAGCAGCTGCA	0.637000													8	64					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3016384	3016384	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:3016384C>A	uc002csg.3	+	3	725	c.420C>A	c.(418-420)ccC>ccA	p.P140P	KREMEN2_uc010bsw.2_Silent_p.P140P|KREMEN2_uc002csi.3_Silent_p.P140P|KREMEN2_uc010uwl.2_Silent_p.P140P|KREMEN2_uc002csh.3_Silent_p.P140P|KREMEN2_uc010bsx.3_Silent_p.P140P|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.	140	WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TCAGCGGCCCCAGCGGCACCT	0.642000													5	106					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61641315	61641315	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:61641315T>C	uc001nsm.3	-	11	1462	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	437					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGCCAGATGTCACCAGAC	0.622000													3	28					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7822139	7822139	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:7822139T>G	uc001ijt.3	-	3	350	c.256A>C	c.(256-258)Act>Cct	p.T86P	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_5'UTR	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	86					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ACCCTTTTAGTGCCTGAGAAC	0.388000													31	78					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396502	45396502	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:45396502C>A	uc001zun.3	-	18	2599	c.2396G>T	c.(2395-2397)cGg>cTg	p.R799L	DUOX2_uc010bea.3_Missense_Mutation_p.R799L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	799					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGGGCCTCCCGCACCTTCTG	0.642000													3	20					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128506	20128506	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:20128506G>T	uc002zrr.2	+	6	972	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZDHHC8_uc002zrq.3_Missense_Mutation_p.G289W|ZDHHC8_uc010gsa.3_Missense_Mutation_p.G95W	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	289						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TAGTGACAACGGGCTGAAGGC	0.652000													4	82					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3176835	3176835	+	Splice_Site	SNP	G	G	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:3176835G>C	uc021xkv.1	+	33	4552	c.4407_splice	c.e33+1	p.Q1469_splice		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1469					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAGATCAGGTTTGTCACTT	0.388000													10	117					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470270	6470270	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:6470270G>T	uc001iji.1	-	16	2203	c.2119C>A	c.(2119-2121)Cgg>Agg	p.R707R	PRKCQ_uc001ijj.2_Silent_p.R674R|PRKCQ_uc009xim.2_Silent_p.R611R|PRKCQ_uc009xin.2_Silent_p.R638R|PRKCQ_uc010qax.2_Silent_p.R549R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	674					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AATGACAGCCGGGGCTTCTCG	0.448000													7	332					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295518	184295518	+	Missense_Mutation	SNP	C	C	A	rs144538024	byFrequency	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:184295518C>A	uc003foz.3	+	6	1989	c.1552C>A	c.(1552-1554)Cgc>Agc	p.R518S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	518	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A517T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCTGACGCCCGCTATGTGGT	0.642000													5	132					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305964	204305964	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:204305964G>T	uc002vad.3	-	13	2174	c.1949C>A	c.(1948-1950)cCc>cAc	p.P650H		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	650					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGACTGGCTGgggagtggggg	0.622000													5	24					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129231238	129231238	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:129231238C>A	uc003eml.3	+	24	3329	c.3123C>A	c.(3121-3123)ccC>ccA	p.P1041P	IFT122_uc003emm.3_Silent_p.P990P|IFT122_uc003emn.3_Silent_p.P931P|IFT122_uc003emo.3_Silent_p.P880P|IFT122_uc003emp.3_Silent_p.P840P|IFT122_uc010htc.3_Silent_p.P983P|IFT122_uc011bky.2_Silent_p.P781P|IFT122_uc011bla.2_Silent_p.P764P|IFT122_uc003emr.3_Silent_p.P743P|IFT122_uc010hte.3_Silent_p.P316P|IFT122_uc003ems.3_Silent_p.P372P|IFT122_uc011bkx.1_Silent_p.P831P	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	990					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGGACACCCCCTCGGGCATCT	0.517000													8	308					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521411	99521411	+	Silent	SNP	C	C	A	rs149138912		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:99521411C>A	uc004awn.1	-	5	1890	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	ZNF510_uc004awo.1_Silent_p.T567T	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T567T(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTCTCTCCCGTGTGAGTTT	0.413000													4	104					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16848062	16848062	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:16848062C>A	uc010rcu.1	-	9	963	c.948G>T	c.(946-948)gtG>gtT	p.V316V	PLEKHA7_uc001mmo.3_Silent_p.V316V|PLEKHA7_uc001mmn.3_Silent_p.V24V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	316					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCGGGTCCCACCCGGCCAC	0.582000													6	115					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34855094	34855094	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr18:34855094G>T	uc002lae.2	-	3	957	c.561C>A	c.(559-561)ccC>ccA	p.P187P	CELF4_uc021uix.1_Silent_p.P186P|CELF4_uc021uiy.1_Silent_p.P187P|CELF4_uc002lag.2_Silent_p.P177P|CELF4_uc002laf.2_Silent_p.P182P|CELF4_uc002lai.2_Silent_p.P172P|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_5'Flank	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	187	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTTGCCGTCGGGCCCGCGCA	0.692000													4	87					0	0	1	0	0
CBWD5	220869	broad.mit.edu	37	9	70182286	70182286	+	RNA	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:70182286T>G	uc004afw.3	-	2		c.1826A>C						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATTTCAATTATTTGTGAATTA	0.229000													4	8					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27623544	27623544	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:27623544C>A	uc009vst.2	+	10	1490	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	WDTC1_uc001bno.3_Missense_Mutation_p.Q318K|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'UTR	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	319							protein binding	p.Q318Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCCAGAAGTCCAGAATGGCAA	0.547000											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	90					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219505430	219505430	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:219505430G>C	uc002vin.3	-	8	4987	c.4551C>G	c.(4549-4551)tgC>tgG	p.C1517W	ZNF142_uc002vil.3_Missense_Mutation_p.C1478W|ZNF142_uc010fvt.3_Missense_Mutation_p.C1354W|ZNF142_uc002vim.3_Missense_Mutation_p.C1354W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACCCACTTGCACTTGTAGC	0.493000													16	29					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447767	55447767	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:55447767C>A	uc002qih.4	-	5	2238	c.2162G>T	c.(2161-2163)cGg>cTg	p.R721L	NLRP7_uc010esk.3_Missense_Mutation_p.R721L|NLRP7_uc002qig.4_Missense_Mutation_p.R693L|NLRP7_uc002qii.4_Missense_Mutation_p.R721L|NLRP7_uc010esl.3_Missense_Mutation_p.R749L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	721			R -> W (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGAAGTCCCGGTACGCGGT	0.502000													5	96					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56619250	56619250	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:56619250C>A	uc002iwq.2	-	1	1825	c.1639G>T	c.(1639-1641)Ggg>Tgg	p.G547W	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	547										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAAGCTCCCACAGTGGGCC	0.488000													5	135					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27263230	27263230	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:27263230C>A	uc002ria.4	+	15	1919	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	TMEM214_uc002rib.4_Silent_p.P558P	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	603						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCCAGCTCCCCGATTCCGTGA	0.572000													5	161					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773148	40773148	+	Silent	SNP	C	C	A	rs138201999		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:40773148C>A	uc004abs.2	-	4	2279	c.2127G>T	c.(2125-2127)acG>acT	p.T709T	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Silent_p.T709T	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTCTCCCCCGTGTGAATTC	0.403000													7	444					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26903883	26903883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:26903883C>A	uc003jgs.1	-	5	1031	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CDH9_uc010iug.3_Nonsense_Mutation_p.G288*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L287F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTATCCTTCCAAGATGAGTT	0.383000													5	99					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708396	51708396	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:51708396G>T	uc021wyu.1	+	1	168	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	TEX264_uc021wyt.1_Missense_Mutation_p.G26W|TEX264_uc010hls.3_Missense_Mutation_p.G26W|TEX264_uc003dbk.4_Missense_Mutation_p.G26W|TEX264_uc010hlt.3_Intron|TEX264_uc003dbm.4_Missense_Mutation_p.G26W	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	26						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGCCTTTGCCGGGTACTCAGG	0.607000													4	96					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69548430	69548430	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:69548430G>T	uc002ary.1	+	2	513	c.285G>T	c.(283-285)gtG>gtT	p.V95V		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	95					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATAGCAATGTGGGAAGTAAGG	0.448000													5	83					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49159613	49159613	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:49159613C>A	uc003cwe.3	-	27	5063	c.4764G>T	c.(4762-4764)caG>caT	p.Q1588H	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1588	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCGTGCATCCTGCAGTAGCT	0.617000													6	92					0	0	1	0	0
BC073927	0	broad.mit.edu	37	11	71513918	71513918	+	RNA	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:71513918A>G	uc001oqx.1	-	2		c.682T>C								Homo sapiens cDNA clone IMAGE:5297769.																		TGAAGTTCACAGCACACGCAG	0.572000													4	37					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89059006	89059006	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr8:89059006C>A	uc003yeb.4	-	8	1662	c.1380G>T	c.(1378-1380)tgG>tgT	p.W460C		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	460	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CACTATATCTCCAATATCTAC	0.373000													5	81					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942215	26942215	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:26942215C>A	uc002hbu.3	-	38	6678	c.6575G>T	c.(6574-6576)cGg>cTg	p.R2192L	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2192						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGCTTTCCCCGGACCTCAGA	0.483000													4	115					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217759	134217759	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:134217759G>T	uc003vrr.3	+	3	675	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	119					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.G119V(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TTCACAGTCTGGGGATGACCT	0.453000													5	138					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976964	72976964	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr14:72976964C>A	uc001xna.4	+	13	1591	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S	RGS6_uc021rvv.1_Silent_p.S321S|RGS6_uc010ttn.2_Silent_p.S356S|RGS6_uc021rvw.1_Silent_p.S356S|RGS6_uc021rvx.1_Silent_p.S356S|RGS6_uc021rvy.1_Silent_p.S319S|RGS6_uc021rvz.1_Silent_p.S319S|RGS6_uc001xmy.4_Silent_p.S356S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S356S|RGS6_uc021rwa.1_Silent_p.S319S|RGS6_uc021rwb.1_Silent_p.S319S|RGS6_uc010ttp.1_Silent_p.S287S|RGS6_uc021rwc.1_Silent_p.S217S	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	356	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCCTGGAGTCCGAATTCAGTT	0.468000													5	178					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7592425	7592425	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:7592425C>A	uc002mgo.3	+	4	732	c.591C>A	c.(589-591)ccC>ccA	p.P197P	MCOLN1_uc002mgp.3_Missense_Mutation_p.P84H	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	197					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.P197L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGTGGATCCCCCCGAGCGGC	0.637000													7	248					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98527768	98527768	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:98527768G>T	uc003upp.3	+	23	3541	c.3332G>T	c.(3331-3333)gGg>gTg	p.G1111V	TRRAP_uc011kis.2_Missense_Mutation_p.G1111V|TRRAP_uc003upr.3_Missense_Mutation_p.G803V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1111					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAAAATCGGGGAGGTGGCC	0.453000													5	113					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167075	6167075	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:6167075C>A	uc001qnn.1	-	13	1919	c.1669G>T	c.(1669-1671)Ggg>Tgg	p.G557W	VWF_uc010set.1_Missense_Mutation_p.G557W	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	557	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTCCCCGTGCAGCTTC	0.647000													4	128					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158443616	158443616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:158443616G>A	uc011kwe.1	-	23	3128	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.Q995*|NCAPG2_uc003wnv.1_Nonsense_Mutation_p.Q995*|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.Q438*	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	995					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAGACTGAACAGCAGTA	0.463000													12	98					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45994026	45994026	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:45994026G>T	uc002imk.3	+	2	726	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	SP2_uc002iml.3_Missense_Mutation_p.G190W|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	197					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CGTGCAGAGCGGGGCCAATGT	0.627000													4	57					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857502	29857502	+	Missense_Mutation	SNP	A	A	C	rs116463939	by1000genomes	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:29857502A>C	uc021ytx.1	+	1	296	c.278A>C	c.(277-279)aAc>aCc	p.N93T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		TCCCAGCCCAACGTCCCCATC	0.577000													3	32					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362215	362215	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:362215G>T	uc002lol.3	-	7	1168	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	THEG_uc002lom.3_Silent_p.P351P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	375					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P375P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGGCCTGGGTTGATCAC	0.562000													5	119					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641082	29641082	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:29641082C>A	uc011dlw.2	-	3	957	c.806G>T	c.(805-807)cGg>cTg	p.R269L		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	185					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AGACTGGTCCCGGAAGCTCTT	0.552000													5	141					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000													3	7					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47381535	47381535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:47381535C>A	uc001nfb.1	-	2	425	c.202G>T	c.(202-204)Gag>Tag	p.E68*	SPI1_uc001nfc.1_Nonsense_Mutation_p.E67*|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Nonsense_Mutation_p.E61*	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	67					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E61K(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AAGTTGTTCTCGGCGAAGCTC	0.627000													3	25					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578592	1578592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:1578592C>A	uc002fte.3	-	19	3028	c.2914G>T	c.(2914-2916)Gag>Tag	p.E972*		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	972						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.E972K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACATTGCACTCGCCTTCACTC	0.527000													4	77					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748753	43748753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:43748753T>A	uc001zrs.3	-	11	2186	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	TP53BP1_uc010udp.2_Nonsense_Mutation_p.K680*|TP53BP1_uc001zrq.4_Nonsense_Mutation_p.K685*|TP53BP1_uc001zrr.4_Nonsense_Mutation_p.K685*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.K685*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	680					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCTTCTTTGAGTTCCTCT	0.443000								Other conserved DNA damage response genes					10	127					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24261454	24261454	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:24261454C>G	uc002rep.2	-	1	1042	c.911G>C	c.(910-912)aGa>aCa	p.R304T	C2orf44_uc010eya.2_Missense_Mutation_p.R304T	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	304							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTTTTTCTTAGACAAAT	0.373000			T	ALK	NSCLC								13	54					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73838576	73838576	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:73838576C>G	uc002jpp.3	-	5	887	c.507G>C	c.(505-507)gaG>gaC	p.E169D	UNC13D_uc010wsk.1_Missense_Mutation_p.E169D|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	169	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGGTGGGTCTCCTCCTCGG	0.667000									Familial Hemophagocytic Lymphohistiocytosis				12	69					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461871	73461871	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:73461871G>T	uc001jrx.4	+	21	2874	c.2484G>T	c.(2482-2484)acG>acT	p.T828T	CDH23_uc001jry.3_Silent_p.T828T|CDH23_uc001jrz.3_Silent_p.T828T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	830	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.T835T(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAGCACCACGGGCAAGATCC	0.612000													6	124					0	0	1	0	0
PFN2	5217	broad.mit.edu	37	3	149686303	149686303	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:149686303C>A	uc003ext.1	-	1	265	c.167G>T	c.(166-168)cGg>cTg	p.R56L	PFN2_uc003exu.1_Missense_Mutation_p.R56L|PFN2_uc011bnu.1_Missense_Mutation_p.R56L|LOC646903_uc021xfo.1_5'Flank	NM_053024	NP_444252	P35080	PROF2_HUMAN	Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA.	56					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.R56L(3)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAAACCTTCCCGGTCTTTTCC	0.418000													6	257					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034051	30034051	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:30034051C>A	uc021qfi.1	-	0	175	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	KCNA4_uc001msk.3_Missense_Mutation_p.G59W	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	59						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGGGAGCCCCCACCAGAACCC	0.687000													5	103					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034036	11034036	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:11034036G>T	uc002mqc.3	-	8	1009	c.882C>A	c.(880-882)ccC>ccA	p.P294P	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Silent_p.P294P	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	294						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						ATGTGATTTGGGGTGGAGGAG	0.632000													6	116					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88451695	88451695	+	Silent	SNP	C	C	A	rs144509718	byFrequency	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:88451695C>A	uc001kdv.3	+	4	755	c.732C>A	c.(730-732)ccC>ccA	p.P244P	LDB3_uc010qml.1_Silent_p.P244P|LDB3_uc010qmm.2_Silent_p.P312P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Silent_p.P197P|LDB3_uc001kdr.3_Silent_p.P197P|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P312P|LDB3_uc001kds.3_Silent_p.P244P	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	244						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCGCCTCTCCCGTCTACCAGG	0.607000													5	148					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201464370	201464370	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:201464370C>A	uc002uvx.3	+	4	438	c.337C>A	c.(337-339)Cag>Aag	p.Q113K		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	113					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGGCACCCAGTGTGGCTT	0.532000													5	90					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24133995	24133995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:24133995C>A	uc002zyd.3	+	1	353	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SMARCB1_uc002zyg.2_Nonsense_Mutation_p.S49*|SMARCB1_uc011ajb.1_Nonsense_Mutation_p.S49*|SMARCB1_uc002zya.3_Nonsense_Mutation_p.S49*|SMARCB1_uc002zyb.3_Nonsense_Mutation_p.S49*|SMARCB1_uc002zyc.3_Nonsense_Mutation_p.S49*|SMARCB1_uc002zye.1_Nonsense_Mutation_p.S12*|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Non-coding_Transcript	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	49					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.S49*(2)|p.?(2)|p.?fs(1)|p.P48S(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGATACCCCTCACTCTGGAGG	0.473000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							7	130					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480440	228480440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:228480440C>A	uc009xez.1	+	39	10864	c.10820C>A	c.(10819-10821)tCg>tAg	p.S3607*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.S3607*|OBSCN_uc001hsq.1_Nonsense_Mutation_p.S863*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3607	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGAGTACTCGTGCGTGTGC	0.582000													5	155					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346596	23346596	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr14:23346596C>A	uc001whd.3	+	6	2555	c.2002C>A	c.(2002-2004)Ccc>Acc	p.P668T	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	668	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGCCTGGGGCCCCCAGGACC	0.682000													5	87					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016753	73016753	+	Silent	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:73016753C>T	uc003dpg.3	+	5	1032	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	344					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.Y344Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACTGCATGTACGGAAGCAACT	0.498000													5	19					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597230	75597230	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:75597230G>T	uc003kei.1	+	11	1994	c.1860G>T	c.(1858-1860)tcG>tcT	p.S620S		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	620					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGTGCTTTCGGGGATCAGCT	0.488000													4	118					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503849	70503849	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:70503849G>T	uc001dep.3	+	18	2258	c.2228G>T	c.(2227-2229)cGg>cTg	p.R743L	LRRC7_uc009wbg.3_Missense_Mutation_p.R27L|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	743						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCAGCCAGCGGGAGGCTGTT	0.502000													6	245					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689967	10689967	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:10689967G>T	uc001arn.3	+	8	1078	c.1057G>T	c.(1057-1059)Ggg>Tgg	p.G353W	PEX14_uc009vmv.3_Missense_Mutation_p.G289W|PEX14_uc010oam.2_Missense_Mutation_p.G289W|PEX14_uc010oan.2_Missense_Mutation_p.G310W|PEX14_uc009vmw.3_Missense_Mutation_p.G289W	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	353					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCGGGGCGGGGATGGGCA	0.677000													4	41					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661020	44661020	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:44661020G>T	uc002oym.3	+	5	1158	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ZNF234_uc002oyl.4_Missense_Mutation_p.G284V	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTCATACTGGGGAGAAACCA	0.413000													6	171					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428293	64428293	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:64428293C>A	uc021qkw.1	-	9	2579	c.2117G>T	c.(2116-2118)cGa>cTa	p.R706L	NRXN2_uc021qkx.1_Missense_Mutation_p.R675L|NRXN2_uc001oas.3_Missense_Mutation_p.R675L|NRXN2_uc001oaq.3_Missense_Mutation_p.R373L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	706	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGCCTTCTCGACAGACGCC	0.632000													5	83					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57293983	57293983	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:57293983C>A	uc003dio.3	+	16	1741	c.1594C>A	c.(1594-1596)Cgg>Agg	p.R532R	APPL1_uc010hnb.3_Silent_p.R532R|APPL1_uc011bey.1_Silent_p.R515R	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	532	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTTAGCTGCCCGGGCCATCCA	0.378000													4	44					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101523819	101523819	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:101523819C>A	uc002bwr.3	+	3	667	c.348C>A	c.(346-348)acC>acA	p.T116T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.T116T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	116					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGCCCACCGAGCCCACGG	0.572000													4	102					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568943	102568943	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:102568943C>A	uc001krk.4	+	7	1488	c.938C>A	c.(937-939)cCt>cAt	p.P313H	PAX2_uc001krm.4_Missense_Mutation_p.P313H|PAX2_uc001krn.4_Missense_Mutation_p.P290H|PAX2_uc001kro.4_Missense_Mutation_p.P290H|PAX2_uc010qps.2_Missense_Mutation_p.P289H|PAX2_uc001krl.4_Missense_Mutation_p.P290H|PAX2_uc001krp.1_Missense_Mutation_p.P286H	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	313					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCACCAACCCTGAGCTGGGC	0.592000													5	113					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79258949	79258949	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:79258949C>A	uc003hlb.2	+	19	2840	c.2400C>A	c.(2398-2400)ctC>ctA	p.L800L	FRAS1_uc003hkw.3_Silent_p.L800L|FRAS1_uc003hkz.3_Silent_p.L504L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	800					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAGTTCCTCAACCTCGTGG	0.557000													5	84					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36876702	36876702	+	Silent	SNP	G	G	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:36876702G>T	uc003apk.1	-	1	260	c.183C>A	c.(181-183)acC>acA	p.T61T	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	61	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GGATATTAAAGGTTGTCAAGG	0.532000													5	99					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115357763	115357763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:115357763C>A	uc001lal.3	-	35	4461	c.4297G>T	c.(4297-4299)Gag>Tag	p.E1433*	NRAP_uc009xyb.3_Nonsense_Mutation_p.E222*|NRAP_uc001laj.3_Nonsense_Mutation_p.E1433*|NRAP_uc001lak.3_Nonsense_Mutation_p.E1398*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1433						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)		TTTGCACTCTCCATCTGTGGG	0.512000													6	120					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218758	8218758	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:8218758C>A	uc003gkv.4	+	6	804	c.703C>A	c.(703-705)Cag>Aag	p.Q235K	SH3TC1_uc003gkw.4_Missense_Mutation_p.Q159K|SH3TC1_uc003gkx.4_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	235							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAATGGCCCCCAGGCCCTCAG	0.647000													5	77					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247406	71247406	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:71247406C>A	uc003dol.3	-	1	450	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	FOXP1_uc003dom.3_Missense_Mutation_p.A43S|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.A43S|FOXP1_uc003doo.3_Missense_Mutation_p.A43S|FOXP1_uc003dop.3_Missense_Mutation_p.A43S|FOXP1_uc021xao.1_Missense_Mutation_p.A43S|FOXP1_uc003doq.1_Missense_Mutation_p.A43S|FOXP1_uc003dos.3_Missense_Mutation_p.A43S	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	43					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGTCCACGGCCGGCGTCTCT	0.627000			T	PAX5	ALL								5	141					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47350634	47350634	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:47350634C>T	uc001ner.1	+	35	5068	c.4877C>T	c.(4876-4878)tCg>tTg	p.S1626L	MADD_uc001neq.2_Missense_Mutation_p.S1567L|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.S1544L|MADD_uc001net.1_Missense_Mutation_p.S1587L|MADD_uc009yln.1_Missense_Mutation_p.S1520L|MADD_uc001neu.1_Missense_Mutation_p.S1524L|MADD_uc001nez.2_Missense_Mutation_p.S1523L|MADD_uc001new.2_Missense_Mutation_p.S1566L|MADD_uc001nex.2_3'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1626					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGTCTCTTCTCGTACGTGGCT	0.557000													80	121					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141114046	141114046	+	Splice_Site	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:141114046C>A	uc002tvj.1	-	75	12368	c.11396_splice	c.e75-1	p.A3799_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3799					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)		TCAGTAGGAGCTGGGATTTAA	0.313000										TSP Lung(27;0.18)			4	45					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823855	146823855	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:146823855T>G	uc003ikn.3	-	1	604	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	ZNF827_uc003ikm.3_Missense_Mutation_p.S186R|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AAACGGTTACTTGGAGTGTAT	0.517000													6	83					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36839	36839	+	RNA	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chrGL000241.1:36839C>T	uc011mgv.2	-	0		c.37G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GTATGTGACCCGGAGCAGCAC	0.577000													4	7					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805442	46805442	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:46805442A>C	uc002ioa.3	-	0	670	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	172					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGAGAGCCCAAGACTGGTAA	0.567000													30	41					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17240890	17240890	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:17240890C>A	uc002wpm.3	+	1	537	c.183C>A	c.(181-183)ccC>ccA	p.P61P	PCSK2_uc002wpl.3_Silent_p.P42P|PCSK2_uc010zrm.2_Intron	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	61					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACAGCTTCCCTTTGCTGAAG	0.557000													6	145					0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78433885	78433885	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:78433885C>A	uc001ozl.4	-	23	4091	c.3628G>T	c.(3628-3630)Ggg>Tgg	p.G1210W		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1210					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTCCGGCGCCCATTGCCCATG	0.597000													4	44					0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49239657	49239657	+	Splice_Site	SNP	C	C	G	rs139696778	by1000genomes	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:49239657C>G	uc001jgd.3	-	1	1	c.-158_splice	c.e1-1							Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TGCCTCTGCTCACAGCTTTGG	0.637000													6	51					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437904	52437904	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:52437904C>A	uc003ddx.3	-	12	1372	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	BAP1_uc003ddw.3_Non-coding_Transcript|BAP1_uc010hmg.3_Non-coding_Transcript|BAP1_uc010hmh.3_Non-coding_Transcript	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	419					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K419fs*11(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTCCCTTCCCCTTATACCTGT	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							7	94					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636615	152636615	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:152636615delC	uc021ozb.1	+	0	34	c.34delC	c.(34-36)cccfs	p.P12fs	LCE2D_uc001fag.3_Frame_Shift_Del_p.P12fs	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	12	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCCTCCCAA	0.493													15	145	---	---	---	---					
CHDH	55349	broad.mit.edu	37	3	53857978	53857992	+	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	-	-	rs61746180	by1000genomes	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	uc003dgz.3	-	2	485_499	c.44_58delCACGGGGAGCCCTGG	c.(43-60)gcacggggagccctgggg>ggg	p.ARGAL15del		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	15					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCTGCCCCAGGGCTCCCCGTGCCAGGGCTCC	0.665													3	4	---	---	---	---					
SRSF1	6426	broad.mit.edu	37	17	56083248	56083249	+	Frame_Shift_Ins	INS	-	A	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:56083248_56083249insA	uc002ivi.3	-	2	674_675	c.465_466insT	c.(463-468)gatggcfs	p.D155fs	SRSF1_uc002ivj.3_Frame_Shift_Ins_p.D155fs	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.	155	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding|nucleotide binding	p.R154L(1)|p.G156G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCAGTGCCATCTCGGTAAA	0.426													22	50	---	---	---	---					
