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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC5A9	200010	broad.mit.edu	37	1	48713171	48713171	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:48713171C>T	uc001crn.2	+	14	2129	c.2077C>T	c.(2077-2079)Ctt>Ttt	p.L693F	SLC5A9_uc001cro.2_Missense_Mutation_p.L668F|SLC5A9_uc010omt.1_Missense_Mutation_p.L682F|SLC5A9_uc001crp.2_Missense_Mutation_p.L335F|SLC5A9_uc010omu.1_Missense_Mutation_p.L335F|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	668						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAATGCTGTCCTTTTGCTGGC	0.527000														72			31		0	0	0.013726	0	0
TFPI	7035	broad.mit.edu	37	2	188368497	188368497	+	Splice_Site	SNP	T	A	A	rs8176415	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:188368497T>A	uc002upy.3	-	2	294	c.-1_splice	c.e2-1		TFPI_uc002uqa.2_Splice_Site|TFPI_uc002uqb.2_Splice_Site	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.						blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTAAATCATCTCTGAAATACA	0.363000														48			24		0	0	0.002780	0	0
KIF13B	23303	broad.mit.edu	37	8	28991695	28991695	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:28991695C>G	uc003xhh.4	-	21	2705	c.2646G>C	c.(2644-2646)caG>caC	p.Q882H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	882					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGGACAGATGCTGTGGCAACC	0.488000														65			34		0	0	0.006999	0	0
HRC	3270	broad.mit.edu	37	19	49658077	49658077	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:49658077C>G	uc002pmv.3	-	0	605	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	140	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCGTGTCTTCACTCCCGTGG	0.597000														70			30		0	0	0.009535	0	0
FAM182B	728882	broad.mit.edu	37	20	25848643	25848643	+	RNA	SNP	C	T	T	rs6107089		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr20:25848643C>T	uc002wvd.1	-	0		c.144G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ctgcttcccccggactccgcc	0.667000														9			3		0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103159949	103159949	+	Silent	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:103159949T>C	uc022ajr.1	-	48	7843	c.7683A>G	c.(7681-7683)ttA>ttG	p.L2561L	RELN_uc022ajq.1_Silent_p.L2561L|RELN_uc010liz.3_Silent_p.L2561L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2561					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGTGACTAATAATCGACTAC	0.328000														87			5		0	0	0.000602	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927082	31927082	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:31927082C>A	uc003nyn.1	+	1	420	c.31C>A	c.(31-33)Cct>Act	p.P11T	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	11						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTGCTACCCCCTCCAGATCC	0.602000														259			115		1.14936e-50	1.39923e-50	0.014410	1	0
VN1R2	317701	broad.mit.edu	37	19	53762787	53762787	+	Nonsense_Mutation	SNP	C	T	T	rs150108993		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:53762787C>T	uc002qbi.2	+	0	1243	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	387					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AAGAAATAGACGATTCTTTCA	0.433000														91			30		0	0	0.008361	0	0
FHDC1	85462	broad.mit.edu	37	4	153896859	153896859	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:153896859G>A	uc003inf.2	+	10	2491	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	806					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAAGGGGATGGCTCCATGTC	0.652000														77			47		0	0	0.014410	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	T	T	rs114234640	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:32725567C>T	uc003obz.2	-	3	823	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000														32			6		0	0	0.003080	0	0
NCOA4	8031	broad.mit.edu	37	10	51585156	51585156	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:51585156G>T	uc001jis.4	+	7	1458	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.D435Y|NCOA4_uc010qhd.2_Missense_Mutation_p.D435Y|NCOA4_uc010qhe.2_Missense_Mutation_p.D319Y|NCOA4_uc010qhf.2_Missense_Mutation_p.D253Y|NCOA4_uc001jit.3_Missense_Mutation_p.D419Y|NCOA4_uc009xoo.3_Missense_Mutation_p.D419Y	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	419					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTGTGTGTGTGATGAGAATTG	0.483000			T	RET	papillary thyroid									33			63		9.53978e-28	1.13666e-27	0.014410	1	0
OR52K1	390036	broad.mit.edu	37	11	4510932	4510932	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:4510932C>T	uc001lza.2	+	0	824	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R268S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCGTGTAGCCCGCCATGCTGC	0.507000														136			59		0	0	0.014410	0	0
NFATC2	4773	broad.mit.edu	37	20	50092014	50092014	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr20:50092014T>G	uc002xwd.3	-	3	1736	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	NFATC2_uc002xwc.3_Missense_Mutation_p.K506Q|NFATC2_uc010zyv.2_Missense_Mutation_p.K287Q|NFATC2_uc010zyw.2_Missense_Mutation_p.K287Q|NFATC2_uc002xwe.3_Missense_Mutation_p.K486Q|NFATC2_uc010zyx.2_Missense_Mutation_p.K486Q|NFATC2_uc010zyy.2_Missense_Mutation_p.K287Q|NFATC2_uc010zyz.2_Missense_Mutation_p.K287Q	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	506	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K506Q(2)|p.P505P(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGTTGTTTTTGGGCTCCAAG	0.577000														209			3		0	0	0.004672	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687708	27687708	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:27687708A>G	uc001itu.2	-	3	1937	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	607					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACATATATAAAGACTACAAAA	0.383000														29			57		0	0	0.014410	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86033	86033	+	RNA	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrGL000211.1:86033T>C	uc003bnz.1	+	5		c.781T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CCATAGGGAGTTTATAGCTTC	0.403000														7			2		0	0	0.004672	0	0
DOCK4	9732	broad.mit.edu	37	7	111555869	111555869	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:111555869G>A	uc003vfy.3	-	12	1426	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	DOCK4_uc003vfx.3_Missense_Mutation_p.T386I|DOCK4_uc003vga.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	386					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAGCTTCCTTGTTATGGATAC	0.368000														29			11		0	0	0.010729	0	0
RHCG	51458	broad.mit.edu	37	15	90026327	90026327	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:90026327T>C	uc002bnz.2	-	2	517	c.493A>G	c.(493-495)Aat>Gat	p.N165D	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.N49D	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	165					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ATGAACTCATTCACAGCGAAG	0.537000														40			26		0	0	0.005443	0	0
DDB1	1642	broad.mit.edu	37	11	61081866	61081866	+	Silent	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:61081866G>A	uc001nrc.4	-	12	1729	c.1503C>T	c.(1501-1503)gcC>gcT	p.A501A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A501A|DDB1_uc010rlg.1_Non-coding_Transcript	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	501	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TATTGCAGGAGGCCACACTGA	0.532000								Nucleotide excision repair (NER)						202			4		0	0	0.009096	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144060	65144060	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:65144060T>C	uc001odr.1	-	6	889	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	SLC25A45_uc009yqi.1_Missense_Mutation_p.M167V|SLC25A45_uc001odq.1_Missense_Mutation_p.M205V|SLC25A45_uc001ods.1_Missense_Mutation_p.M187V|SLC25A45_uc001odt.1_Missense_Mutation_p.M187V	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	229					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCCATCTGCATCCGGGACTTG	0.617000														78			29		0	0	0.009535	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007683	110007683	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:110007683T>C	uc010rwc.2	+	1	320	c.320T>C	c.(319-321)aTt>aCt	p.I107T	ZC3H12C_uc009yxw.3_Missense_Mutation_p.I106T|ZC3H12C_uc010rwd.2_Missense_Mutation_p.I107T|ZC3H12C_uc001pkr.4_Missense_Mutation_p.I75T|ZC3H12C_uc001pkq.2_Missense_Mutation_p.I75T	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	106							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTGGGTAGCATTTCAGTAGAG	0.448000														12			14		0	0	0.001855	0	0
TLN1	7094	broad.mit.edu	37	9	35699405	35699405	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:35699405C>A	uc003zxt.2	-	50	7176	c.6822G>T	c.(6820-6822)aaG>aaT	p.K2274N		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2274					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCCACACGCTTTGAATGTC	0.562000														55			25		2.25844e-05	2.52945e-05	0.007291	1	0
USP24	23358	broad.mit.edu	37	1	55612677	55612677	+	Silent	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:55612677A>G	uc021onw.1	-	18	2428	c.2175T>C	c.(2173-2175)taT>taC	p.Y725Y	USP24_uc001cyg.4_Silent_p.Y559Y	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	725					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCCAGCCCAGATACAGAGTAG	0.393000														29			18		0	0	0.007413	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrGL000205.1:118572G>A	uc002kgk.4	+	0		c.1950G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTTTAGCTGATTCCGG	0.398000														30			7		0	0	0.001984	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24381695	24381695	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrX:24381695G>A	uc011mjx.2	+	0	818	c.818G>A	c.(817-819)aGa>aAa	p.R273K		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						AAAGAAGAAAGAAAAGTAGGT	0.512000														74			4		0	0	0.009096	0	0
EFNA1	1942	broad.mit.edu	37	1	155104075	155104075	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:155104075A>G	uc001fhh.3	+	1	458	c.353A>G	c.(352-354)aAg>aGg	p.K118R	EFNA1_uc001fhi.3_Missense_Mutation_p.K118R|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Homo sapiens ephrin-A1 (EFNA1), transcript variant 1, mRNA.	118					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCCTGGGCAAGGAGTTCAAA	0.527000														30			9		0	0	0.006214	0	0
SLC29A3	55315	broad.mit.edu	37	10	73111339	73111339	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:73111339T>A	uc001jrr.4	+	3	461	c.404T>A	c.(403-405)gTc>gAc	p.V135D	SLC29A3_uc001jrs.4_Missense_Mutation_p.V135D|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	135					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CACATCCGTGTCCTGGCCTCA	0.602000														71			4		0	0	0.009096	0	0
SSH2	85464	broad.mit.edu	37	17	27975326	27975326	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:27975326C>A	uc002heo.1	-	12	1182	c.1182G>T	c.(1180-1182)atG>atT	p.M394I	SSH2_uc010wbh.1_Missense_Mutation_p.M421I|SSH2_uc002hep.1_Missense_Mutation_p.M394I	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	394	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACCCCCATTTTGCAGT	0.443000														33			41		1.47197e-15	1.7173e-15	0.007835	1	0
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	C	C	rs104894331		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr12:50344816A>C	uc001rvn.3	+	0	293	c.203A>C	c.(202-204)aAc>aCc	p.N68T		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	68			N -> S (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	p.N68T(4)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662000														39			8		0	0	0.003163	0	0
PKHD1	5314	broad.mit.edu	37	6	51930865	51930865	+	Silent	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:51930865A>G	uc003pah.1	-	11	1065	c.789T>C	c.(787-789)tcT>tcC	p.S263S	PKHD1_uc003pai.3_Silent_p.S263S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	263	IPT/TIG 3.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGAAACACAGATAATATTT	0.328000														31			15		0	0	0.002450	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319584	21319584	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:21319584C>T	uc021tss.1	+	2	1300	c.930C>T	c.(928-930)acC>acT	p.T310T	KCNJ18_uc002gyv.1_Silent_p.T310T|KCNJ18_uc021tst.1_Silent_p.T310T	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	310						integral to membrane	inward rectifier potassium channel activity										CCATGACCACCCAGGCCCGCA	0.607000														195			9		0	0	0.006214	0	0
ZXDC	79364	broad.mit.edu	37	3	126194470	126194470	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:126194470T>C	uc003eiv.3	-	0	293	c.239A>G	c.(238-240)gAa>gGa	p.E80G	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.E80G	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	80					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTGCGGCACTTCCAGCAGCAC	0.766000														5			7		0	0	0.008291	0	0
MOCS3	27304	broad.mit.edu	37	20	49576203	49576203	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr20:49576203T>G	uc002xvy.1	+	0	841	c.824T>G	c.(823-825)tTg>tGg	p.L275W	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	275					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AGTGGCAGCTTGTTGCTCTTT	0.632000														54			61		0	0	0.014410	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287171	53287171	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:53287171A>G	uc001cuj.3	+	13	2300	c.2105A>G	c.(2104-2106)aAa>aGa	p.K702R	ZYG11B_uc010onj.2_Missense_Mutation_p.K623R|ZYG11B_uc009vzh.3_Missense_Mutation_p.K124R	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	702							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAACATCAAAGATCATGAA	0.418000														52			16		0	0	0.004990	0	0
PARK2	5071	broad.mit.edu	37	6	162864432	162864432	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:162864432C>T	uc021zhu.1	-	2	313	c.222G>A	c.(220-222)aaG>aaA	p.K74K	PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Silent_p.K27K|PARK2_uc021zhs.1_Silent_p.K27K|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.K27K|PARK2_uc003qtz.4_Silent_p.K27K|PARK2_uc021zhv.1_5'UTR|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.K27K|PARK2_uc010kke.1_Silent_p.K27K	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	27	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAACCACCTCCTTGAGCTGGA	0.542000														96			41		0	0	0.010771	0	0
DRD2	1813	broad.mit.edu	37	11	113295344	113295344	+	Silent	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:113295344A>G	uc001pnz.3	-	0	351	c.30T>C	c.(28-30)gaT>gaC	p.D10D	DRD2_uc010rwv.2_Silent_p.D10D|DRD2_uc001poa.4_Silent_p.D10D|DRD2_uc001pob.4_Silent_p.D10D|DRD2_uc009yyr.1_Silent_p.D10D	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	10					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCAGATCATCATCATACCAGG	0.587000														65			26		0	0	0.003954	0	0
RERE	473	broad.mit.edu	37	1	8674682	8674682	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:8674682A>T	uc001ape.3	-	4	1270	c.460T>A	c.(460-462)Tct>Act	p.S154T	RERE_uc001apf.3_Missense_Mutation_p.S154T|RERE_uc001aph.1_Missense_Mutation_p.S154T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	154	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACCGGCAGAGAGCATGCTGGG	0.498000														106			50		0	0	0.014410	0	0
F12	2161	broad.mit.edu	37	5	176831350	176831350	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:176831350A>G	uc003mgo.4	-	8	914	c.865T>C	c.(865-867)Tac>Cac	p.Y289H		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	289	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCGCAGTACTCCCAGCTC	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			10		0	0	0.013537	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500785	102500785	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr14:102500785A>G	uc001yks.2	+	55	10914	c.10750A>G	c.(10750-10752)Aat>Gat	p.N3584D		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3584	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAACGATTCAATAGGTATGA	0.473000														76			34		0	0	0.003755	0	0
C8orf46	254778	broad.mit.edu	37	8	67405943	67405943	+	Silent	SNP	T	A	A	rs139160272	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:67405943T>A	uc003xwg.3	+	0	453	c.60T>A	c.(58-60)atT>atA	p.I20I	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_Silent_p.I20I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	20										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACCGTGATTCCTTCCAAGG	0.502000														47			20		0	0	0.010504	0	0
ACAN	176	broad.mit.edu	37	15	89398462	89398462	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:89398462C>T	uc010upo.1	+	11	3020	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	ACAN_uc010upp.1_Silent_p.F882F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	882					cell adhesion		hyaluronic acid binding|sugar binding	p.D881E(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACCTTGACTTCAGTGGGCAGC	0.597000														45			18		0	0	0.007413	0	0
INADL	10207	broad.mit.edu	37	1	62365295	62365295	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:62365295C>T	uc001dab.3	+	22	3286	c.3172C>T	c.(3172-3174)Cca>Tca	p.P1058S	INADL_uc009waf.1_Missense_Mutation_p.P1058S|INADL_uc001daa.2_Missense_Mutation_p.P1058S|INADL_uc001dad.3_Missense_Mutation_p.P755S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1058					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAAGAAACTCCAAATTTTAG	0.398000														134			64		0	0	0.014410	0	0
TMEM120B	144404	broad.mit.edu	37	12	122190050	122190050	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr12:122190050G>A	uc001ubc.4	+	4	526	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	TMEM120B_uc009zxh.3_Missense_Mutation_p.E128K	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	128						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTACAAGGACGAATATGAGAA	0.577000														64			35		0	0	0.004878	0	0
PAPSS2	9060	broad.mit.edu	37	10	89503313	89503313	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:89503313C>T	uc001kex.3	+	9	1654	c.1391C>T	c.(1390-1392)gCt>gTt	p.A464V	PAPSS2_uc001kew.3_Missense_Mutation_p.A469V	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	464					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAGCACGCGGCTGTGCTCGAG	0.587000														36			43		0	0	0.010771	0	0
ZNF516	9658	broad.mit.edu	37	18	74154041	74154041	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr18:74154041C>T	uc021ulp.1	-	2	1288	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATCACCTCCTCCTGGACCACG	0.602000														50			19		0	0	0.012319	0	0
RELA	5970	broad.mit.edu	37	11	65423175	65423175	+	Silent	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:65423175A>G	uc010ron.2	-	9	1190	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A	RELA_uc001off.3_Silent_p.A339A|RELA_uc001ofh.3_Silent_p.A336A|RELA_uc001ofg.3_Silent_p.A339A|RELA_uc021qlq.1_Silent_p.A339A|RELA_uc009yqr.3_Silent_p.A286A|RELA_uc001ofe.2_Silent_p.A339A|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	339					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGGGACAGAAGCTGAGCTGC	0.607000														43			13		0	0	0.003163	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570007	53570007	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:53570007C>T	uc003xre.4	-	14	2940	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	RB1CC1_uc003xrf.4_Silent_p.L794L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	794					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTGGACATTCAGAGAAGTAT	0.378000														99			51		0	0	0.014410	0	0
ABP1	26	broad.mit.edu	37	7	150553627	150553627	+	Silent	SNP	G	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:150553627G>C	uc003why.1	+	2	4287	c.69G>C	c.(67-69)ccG>ccC	p.P23P	ABP1_uc003whz.1_Silent_p.P23P|ABP1_uc003wia.1_Silent_p.P23P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	23					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCTCCCCGGGGACTCTGC	0.632000														40			32		0	0	0.010818	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000														17			5		0	0	0.001168	0	0
CCBL1	883	broad.mit.edu	37	9	131607633	131607633	+	Splice_Site	SNP	A	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:131607633A>T	uc004bwh.3	-	2	238	c.53_splice	c.e2+1	p.W18_splice	CCBL1_uc004bwg.3_Splice_Site|CCBL1_uc010myn.3_Splice_Site_p.W18_splice|CCBL1_uc004bwj.3_Splice_Site_p.W18_splice|CCBL1_uc004bwi.3_Splice_Site|CCBL1_uc011mbl.2_Splice_Site_p.W112_splice	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	18					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CTGGCTCACCAGGGGTTGTAG	0.602000														33			7		0	0	0.001984	0	0
ARVCF	421	broad.mit.edu	37	22	19965495	19965495	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr22:19965495C>G	uc002zqz.3	-	7	1954	c.1684G>C	c.(1684-1686)Gac>Cac	p.D562H	ARVCF_uc002zqy.3_Missense_Mutation_p.D84H	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	562					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)					TTGTCAGTGTCCTTCCGGCCC	0.652000														38			14		0	0	0.002450	0	0
NBEAL1	65065	broad.mit.edu	37	2	204039877	204039877	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:204039877A>T	uc002uzt.3	+	40	6577	c.6244A>T	c.(6244-6246)Aat>Tat	p.N2082Y	NBEAL1_uc021vvj.1_Missense_Mutation_p.N785Y	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2082	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGATATGAAAATTTTGAGGA	0.333000														45			21		0	0	0.003330	0	0
LRPPRC	10128	broad.mit.edu	37	2	44139638	44139638	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:44139638A>G	uc002rtr.2	-	29	3266	c.3208T>C	c.(3208-3210)Tac>Cac	p.Y1070H	LRPPRC_uc010yob.1_Missense_Mutation_p.Y970H	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1070					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATTGCTGTAGGTTTCAGCA	0.313000														48			31		0	0	0.007291	0	0
PSMD14	10213	broad.mit.edu	37	2	162227815	162227815	+	Silent	SNP	T	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:162227815T>C	uc002ubu.2	+	6	911	c.444T>C	c.(442-444)atT>atC	p.I148I		NM_005805	NP_005796	O00487	PSDE_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 (PSMD14), mRNA.	148					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	p.P147H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TGGATCCCATTCAGAGTGTAA	0.408000														15			3		0	0	0.009096	0	0
CALML4	91860	broad.mit.edu	37	15	68489823	68489823	+	Missense_Mutation	SNP	G	A	A	rs149339094	by1000genomes	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:68489823G>A	uc002arb.3	-	3	1182	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	CALML4_uc002arc.3_Missense_Mutation_p.R103W|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	150	EF-hand 3.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						AGTTTTGACCGCAGGTCGGAC	0.507000														79			38		0	0	0.007835	0	0
ANO1	55107	broad.mit.edu	37	11	69951883	69951883	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:69951883C>T	uc001opj.3	+	4	1041	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.R218W|ANO1_uc010rqk.2_5'Flank	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	246					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAGCAAAACCCGGAGCACGAT	0.488000														27			14		0	0	0.002450	0	0
IL1RN	3557	broad.mit.edu	37	2	113885204	113885204	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:113885204G>A	uc002tjb.3	+	0	67	c.3G>A	c.(1-3)atG>atA	p.M1I	IL1RN_uc002tix.1_Intron|IL1RN_uc002tiz.3_Intron|IL1RN_uc002tiy.3_Intron|IL1RN_uc002tja.3_Intron	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	1					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	GTCACAGAATGGAAATCTGCA	0.532000									Lichen Sclerosis et Atrophicus, Familial Clustering of					36			12		0	0	0.010729	0	0
FAM113B	91523	broad.mit.edu	37	12	47628909	47628909	+	Silent	SNP	G	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr12:47628909G>T	uc001rpq.3	+	1	588	c.63G>T	c.(61-63)ctG>ctT	p.L21L	FAM113B_uc001rpn.3_Silent_p.L21L|FAM113B_uc021qxi.1_Silent_p.L21L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	21							hydrolase activity	p.I20I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGGTCATCCTGGGGGACTCTG	0.602000														41			21		1.28384e-07	1.46724e-07	0.012319	1	0
CCR3	1232	broad.mit.edu	37	3	46307340	46307340	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:46307340A>G	uc003cpl.2	+	2	1821	c.790A>G	c.(790-792)Agt>Ggt	p.S264G	CCR3_uc003cpg.2_Missense_Mutation_p.S231G|CCR3_uc003cpk.2_Missense_Mutation_p.S252G|CCR3_uc003cpi.2_Missense_Mutation_p.S231G|CCR3_uc010hjb.2_Missense_Mutation_p.S249G|CCR3_uc003cpj.2_Missense_Mutation_p.S231G|CCR3_uc021wwz.1_Missense_Mutation_p.S231G	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	231					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GAGGTGCCCCAGTAAAAAAAA	0.463000														32			26		0	0	0.003330	0	0
CD209	30835	broad.mit.edu	37	19	7810714	7810714	+	Silent	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:7810714G>A	uc002mht.2	-	3	505	c.438C>T	c.(436-438)atC>atT	p.I146I	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.I122I|CD209_uc002mhr.2_Silent_p.I122I|CD209_uc002mhs.2_Silent_p.I122I|CD209_uc002mhu.2_Silent_p.I146I|CD209_uc010dvq.2_Silent_p.I146I|CD209_uc002mhq.2_Silent_p.I146I|CD209_uc002mhv.2_Silent_p.I122I|CD209_uc002mhx.2_Silent_p.I102I|CD209_uc002mhw.2_Silent_p.I102I|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	146	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTCCTGGTAGATCTCCTGCA	0.547000														139			63		0	0	0.014410	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849533	102849533	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:102849533C>T	uc002tbs.3	+	9	1372	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	IL1RL2_uc002tbt.3_Nonsense_Mutation_p.Q298*	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	416	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GTTGGAGAGACAATGTGGATA	0.453000														87			31		0	0	0.013726	0	0
TCHH	7062	broad.mit.edu	37	1	152082279	152082279	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:152082279C>T	uc009wne.1	-	2	3686	c.3414G>A	c.(3412-3414)agG>agA	p.R1138R	TCHH_uc001ezp.2_Silent_p.R1138R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1138	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccgatattgcctctccagct	0.612000														85			35		0	0	0.004289	0	0
PRSS22	64063	broad.mit.edu	37	16	2905589	2905589	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:2905589C>T	uc002cry.1	-	3	611	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						ATCTTGGATGCTCCCCCAGCC	0.592000														46			50		0	0	0.014410	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074691	1074691	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:1074691T>G	uc003jbu.3	-	15	2129	c.2063A>C	c.(2062-2064)aAg>aCg	p.K688T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	688					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTCCAGTTCTTGGTGTGGGG	0.657000														52			21		0	0	0.006320	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883759	74883759	+	Missense_Mutation	SNP	C	G	G	rs140925977		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:74883759C>G	uc002sna.1	+	1	355	c.244C>G	c.(244-246)Cgg>Ggg	p.R82G	SEMA4F_uc010ysb.1_Missense_Mutation_p.R82G|SEMA4F_uc021vjn.1_Missense_Mutation_p.R82G|SEMA4F_uc010ffq.1_Missense_Mutation_p.R82G|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.R82G	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	82	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.R82R(2)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGTTGGCGCCCGGGACACCAT	0.562000														83			35		0	0	0.003755	0	0
NTRK3	4916	broad.mit.edu	37	15	88679229	88679229	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:88679229G>C	uc002bme.2	-	8	1114	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	NTRK3_uc002bmh.2_Missense_Mutation_p.L270V|NTRK3_uc002bmf.2_Missense_Mutation_p.L270V|NTRK3_uc021sua.1_Missense_Mutation_p.L270V|NTRK3_uc010upl.1_Missense_Mutation_p.L172V|NTRK3_uc010bnh.1_Missense_Mutation_p.L270V|NTRK3_uc002bmg.3_Missense_Mutation_p.L270V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	270	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L270M(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACATTCACCAGCGTCAAGTTG	0.478000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				79			36		0	0	0.005524	0	0
PLK4	10733	broad.mit.edu	37	4	128812805	128812805	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:128812805C>A	uc003ifo.3	+	8	2281	c.2007C>A	c.(2005-2007)aaC>aaA	p.N669K	PLK4_uc011cgs.2_Missense_Mutation_p.N637K|PLK4_uc011cgt.2_Missense_Mutation_p.N628K|U6_uc021xrr.1_5'Flank	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	669					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTACTGACAACATCAGTAGGT	0.318000														91			50		1.17673e-23	1.3873e-23	0.014410	1	0
KCNV2	169522	broad.mit.edu	37	9	2718279	2718279	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:2718279C>T	uc003zho.2	+	0	754	c.540C>T	c.(538-540)cgC>cgT	p.R180R		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCCGCGCCGCTTCCTGGAGG	0.657000														11			6		0	0	0.001168	0	0
C4orf36	132989	broad.mit.edu	37	4	87809274	87809274	+	Splice_Site	SNP	A	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:87809274A>T	uc003hqe.4	-	3	533	c.220_splice	c.e3+1	p.S74_splice		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	Homo sapiens chromosome 4 open reading frame 36 (C4orf36), mRNA.	74										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGGAACTTACATTCTGCAGAA	0.363000														51			23		0	0	0.002780	0	0
FSCN1	6624	broad.mit.edu	37	7	5633277	5633277	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:5633277G>A	uc003sou.3	+	0	842	c.710G>A	c.(709-711)aGc>aAc	p.S237N		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	237					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCGGGGCCCAGCGGCACGCTC	0.716000														19			3		0	0	0.004672	0	0
FAM59A	64762	broad.mit.edu	37	18	29867256	29867256	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr18:29867256A>G	uc002kxl.3	-	3	1360	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	FAM59A_uc002kxk.2_Missense_Mutation_p.F435S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	435								p.L434I(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGCTTCTGGGAAAAGGTAGTC	0.557000														113			57		0	0	0.014410	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32548011	32548011	+	Nonstop_Mutation	SNP	T	G	G	rs28732249	by1000genomes	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:32548011T>G	uc011dqc.1	-	3	700	c.290A>C	c.(289-291)tAa>tCa	p.*97S	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc003obp.4_Intron|HLA-DRB5_uc011dqb.1_Intron	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	0	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AAAAGAGGATTAAAAGGTATT	0.428000														11			2		0	0	0.009096	0	0
FCGBP	8857	broad.mit.edu	37	19	40419757	40419757	+	Silent	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:40419757A>G	uc002omp.4	-	5	3245	c.3237T>C	c.(3235-3237)caT>caC	p.H1079H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1079	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGCTTGCTATGGCACTCCC	0.642000														102			38		0	0	0.006230	0	0
WIPF2	147179	broad.mit.edu	37	17	38416825	38416825	+	Silent	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:38416825G>A	uc002hug.1	+	2	342	c.102G>A	c.(100-102)caG>caA	p.Q34Q	WIPF2_uc010cwv.1_Silent_p.Q34Q|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Silent_p.Q34Q|WIPF2_uc010cwx.1_Silent_p.Q34Q|WIPF2_uc010cwy.1_Silent_p.Q34Q	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	34						cytoplasm|cytoskeleton	actin binding	p.E33D(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GAGATGAGCAGCGGGGTCGAG	0.522000										HNSCC(43;0.11)				109			34		0	0	0.003755	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	T	T	rs113761247	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000														31			6		0	0	0.003080	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572163	127572163	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:127572163C>T	uc004bov.3	+	7	1544	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	OLFML2A_uc004bow.3_Silent_p.Y263Y	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	477	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCGCCTTCTACTACAACCGCG	0.602000														56			28		0	0	0.006320	0	0
AGMAT	79814	broad.mit.edu	37	1	15909721	15909721	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:15909721T>A	uc001awv.2	-	1	585	c.442A>T	c.(442-444)Att>Ttt	p.I148F	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	148					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCTACAATTTTCTCATAG	0.502000														29			19		0	0	0.012319	0	0
WAPAL	23063	broad.mit.edu	37	10	88259986	88259986	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:88259986C>A	uc001kdn.3	-	3	1152	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	WAPAL_uc001kdo.3_Missense_Mutation_p.K338N|WAPAL_uc009xsw.3_Missense_Mutation_p.K338N	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	338	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CACCCCCTTTCTTTGCCTGAT	0.448000														42			101		6.16109e-32	7.41981e-32	0.014410	1	0
BRD4	23476	broad.mit.edu	37	19	15350519	15350519	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:15350519C>T	uc002nar.3	-	15	3618	c.3396G>A	c.(3394-3396)gaG>gaA	p.E1132E		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1132					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTTGGGGGGCTCCGGCCGCA	0.711000			T	C15orf55	lethal midline carcinoma of young people									36			19		0	0	0.003954	0	0
GNAI2	2771	broad.mit.edu	37	3	50294280	50294280	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:50294280A>C	uc003cyq.1	+	5	840	c.719A>C	c.(718-720)gAg>gCg	p.E240A	GNAI2_uc003cyo.1_Missense_Mutation_p.E224A|GNAI2_uc003cyp.1_Missense_Mutation_p.E224A|GNAI2_uc010hlg.1_Missense_Mutation_p.E159A|GNAI2_uc011bdn.2_Missense_Mutation_p.E203A|GNAI2_uc003cyr.1_Missense_Mutation_p.E159A	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	240					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGGACGAGGAGATGGTGAGA	0.577000														47			30		0	0	0.009535	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660917	233660917	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:233660917A>G	uc002vtj.4	+	15	1955	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	GIGYF2_uc010zmj.1_Missense_Mutation_p.Q542R|GIGYF2_uc002vtg.2_Missense_Mutation_p.Q536R|GIGYF2_uc002vti.4_Missense_Mutation_p.Q542R|GIGYF2_uc002vtk.4_Missense_Mutation_p.Q542R|GIGYF2_uc002vth.4_Missense_Mutation_p.Q536R|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.Q373R	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	542	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGATCCTCAGGGAGAAATT	0.378000														86			30		0	0	0.009535	0	0
MTHFD2	10797	broad.mit.edu	37	2	74441208	74441208	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:74441208G>A	uc002skk.3	+	7	971	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	SLC4A5_uc002skl.3_Intron|MTHFD2_uc002skj.3_Missense_Mutation_p.V196I|MTHFD2_uc010yro.2_Missense_Mutation_p.V196I|MTHFD2_uc010yrp.2_Missense_Mutation_p.V134I	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTATGTAGGAGTCAGACAAAA	0.398000														136			58		0	0	0.014410	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858178	149858178	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:149858178C>T	uc001etc.3	-	0	55	c.13G>A	c.(13-15)Gca>Aca	p.A5T	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	5				A -> S (in Ref. 7; AAH98112/AAH98289).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.P4L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGATTTTGCCGGTTCAGGC	0.507000														70			4		0	0	0.009096	0	0
KCNN3	3782	broad.mit.edu	37	1	154841688	154841688	+	Silent	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:154841688G>A	uc021pah.1	-	0	1067	c.753C>T	c.(751-753)agC>agT	p.S251S	KCNN3_uc001ffp.3_Silent_p.S251S|KCNN3_uc009wox.1_Silent_p.S251S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	256						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGGTGGTGCTGCTGGCGGTGG	0.567000														63			35		0	0	0.005524	0	0
PRSS22	64063	broad.mit.edu	37	16	2905588	2905588	+	Silent	SNP	G	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:2905588G>A	uc002cry.1	-	3	612	c.546C>T	c.(544-546)agC>agT	p.S182S		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CATCTTGGATGCTCCCCCAGC	0.587000														46			51		0	0	0.014410	0	0
MBD1	4152	broad.mit.edu	37	18	47800703	47800703	+	Silent	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr18:47800703C>T	uc002lem.4	-	10	1436	c.999G>A	c.(997-999)cgG>cgA	p.R333R	MBD1_uc002lef.3_Intron|MBD1_uc002leg.3_Silent_p.R283R|MBD1_uc010dow.2_Silent_p.R333R|MBD1_uc010xdi.2_Silent_p.R384R|MBD1_uc010xdj.2_Intron|MBD1_uc002lel.4_Silent_p.R310R|MBD1_uc002len.3_Silent_p.R333R|MBD1_uc002leh.4_Intron|MBD1_uc002lei.4_Silent_p.R333R|MBD1_uc002lej.4_Intron|MBD1_uc002lek.4_Silent_p.R284R|MBD1_uc021ukd.1_Silent_p.R358R|MBD1_uc021uke.1_Intron|MBD1_uc010xdk.2_Silent_p.R358R|MBD1_uc010dox.1_Silent_p.R310R|MBD1_uc002leo.2_Silent_p.R333R	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	333					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCGGTTCTGCCGGCGGTTCG	0.642000														45			3		0	0	0.004672	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266986	12266986	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:12266986C>T	uc001att.3	+	9	1384	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	TNFRSF1B_uc001atu.3_Missense_Mutation_p.S237L|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	432					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCCTTTCGGTCACAGCTGGAG	0.622000														70			31		0	0	0.009535	0	0
USP47	55031	broad.mit.edu	37	11	11942036	11942036	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:11942036G>T	uc001mjs.3	+	9	1976	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y	USP47_uc001mjq.1_Missense_Mutation_p.D425Y|USP47_uc001mjr.3_Missense_Mutation_p.D337Y	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	425					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGATGTTGAAGATGAGGTAAA	0.303000														49			21		1.01871e-10	1.17625e-10	0.008871	1	0
COL5A2	1290	broad.mit.edu	37	2	189898818	189898819	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:189898818_189898819insTT	uc002uqk.3	-	53	4752_4753	c.4477_4478insAA	c.(4477-4479)attfs	p.I1493fs	COL5A2_uc010frx.3_Frame_Shift_Ins_p.I1069fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1493	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACTGGCCCAATTTCAACGCCG	0.460													---	50	---	---	15	---					
ANKZF1	55139	broad.mit.edu	37	2	220099806	220099806	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:220099806delC	uc002vkg.3	+	9	1637	c.1463delC	c.(1462-1464)gccfs	p.A488fs	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.3_Frame_Shift_Del_p.A278fs|ANKZF1_uc002vki.3_Frame_Shift_Del_p.A488fs|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	488						intracellular	zinc ion binding	p.K487T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCCAAAGCCCCTGGTCAG	0.587													---	51	---	---	20	---					
MAT2B	27430	broad.mit.edu	37	5	162940576	162940577	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:162940576_162940577insA	uc003lzk.3	+	2	382_383	c.274_275insA	c.(274-276)catfs	p.H92fs	MAT2B_uc003lzj.3_Frame_Shift_Ins_p.H81fs|MAT2B_uc003lzl.1_Frame_Shift_Ins_p.H92fs	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	92					S-adenosylmethionine biosynthetic process|extracellular polysaccharide biosynthetic process|methylation|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTTATAGTACATTGTGCAGCA	0.371													---	68	---	---	37	---					
CLTB	1212	broad.mit.edu	37	5	175843340	175843342	+	In_Frame_Del	DEL	AGA	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:175843340_175843342delAGA	uc003meh.3	-	0	199_201	c.23_25delTCT	c.(22-27)ttctcg>tcg	p.F8del	CLTB_uc003mei.3_In_Frame_Del_p.F8del|CLTB_uc011dfn.2_Non-coding_Transcript	NM_007097	NP_009028	P09497	CLCB_HUMAN	Homo sapiens clathrin, light chain B (CLTB), transcript variant 2, mRNA.	8					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TCCGACGACGAGAAGAAGCCAAA	0.724													---	21	---	---	15	---					
CYP21A2	1589	broad.mit.edu	37	6	32007842	32007846	+	Frame_Shift_Del	DEL	CAGCC	-	-	rs142028935	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:32007842_32007846delCAGCC	uc003nze.2	+	6	906_910	c.799_803delCAGCC	c.(799-804)cagccgfs	p.Q267fs	CYP21A2_uc003nzf.2_Frame_Shift_Del_p.Q237fs	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	266					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGGGGTGGCGCAGCCGAGCATGGAA	0.639													---	233	---	---	33	---					
AGPAT1	10554	broad.mit.edu	37	6	32139261	32139268	+	Frame_Shift_Del	DEL	GCCACAAA	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:32139261_32139268delGCCACAAA	uc003oae.3	-	1	341_348	c.6_13delTTTGTGGC	c.(4-15)gatttgtggccafs	p.D2fs	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_5'UTR|AGPAT1_uc003oag.3_5'UTR|AGPAT1_uc003oah.3_Frame_Shift_Del_p.D2fs|AGPAT1_uc003oai.1_Frame_Shift_Del_p.D2fs|AGPAT1_uc011dpl.2_5'UTR	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	2					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CATGCCCCTGGCCACAAATCCATTCTGG	0.606													---	14	---	---	9	---					
MPP6	51678	broad.mit.edu	37	7	24727063	24727075	+	Frame_Shift_Del	DEL	GACTTGAAGAAAA	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:24727063_24727075delGACTTGAAGAAAA	uc003swx.3	+	12	1752_1764	c.1453_1465delGACTTGAAGAAAA	c.(1453-1467)gacttgaagaaaacafs	p.D485fs	MPP6_uc003swy.3_Frame_Shift_Del_p.D485fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	485	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACAGGACTCTGACTTGAAGAAAACAGTGGATGA	0.324													---	94	---	---	50	---					
ZMIZ2	83637	broad.mit.edu	37	7	44807159	44807159	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:44807159delG	uc003tlr.3	+	18	2823	c.2700delG	c.(2698-2700)ttgfs	p.L900fs	ZMIZ2_uc003tlq.3_Frame_Shift_Del_p.L842fs|ZMIZ2_uc003tls.3_Frame_Shift_Del_p.L874fs|ZMIZ2_uc003tlt.3_Frame_Shift_Del_p.L523fs|ZMIZ2_uc010kyj.3_Frame_Shift_Del_p.L422fs|ZMIZ2_uc003tlu.3_Frame_Shift_Del_p.L181fs|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	900	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTCCTACTTGGGCCCACCCG	0.552													---	99	---	---	24	---					
TRAPPC9	83696	broad.mit.edu	37	8	141449171	141449172	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:141449171_141449172delTT	uc003yvh.2	-	2	1018_1019	c.1003_1004delAA	c.(1003-1005)aatfs	p.N335fs	TRAPPC9_uc003yvj.2_Frame_Shift_Del_p.N237fs|TRAPPC9_uc003yvi.1_Frame_Shift_Del_p.N237fs	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	237					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGAAAGTCATTCACAGAACGC	0.525													---	88	---	---	72	---					
PTEN	5728	broad.mit.edu	37	10	89717645	89717646	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:89717645_89717646delAT	uc001kfb.3	+	6	1702_1703	c.670_671delAT	c.(670-672)atafs	p.I224fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	224	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.I224fs*18(2)|p.K223fs*33(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGTGAAGATATATTCCTCC	0.421		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	65	---	---	84	---					
ABCC2	1244	broad.mit.edu	37	10	101606844	101606844	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:101606844delG	uc001kqf.2	+	29	4412	c.4273delG	c.(4273-4275)gggfs	p.G1425fs		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1425	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1425W(2)|p.G1425G(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTGCAACTTGGGTTATCCCA	0.537													---	50	---	---	101	---					
MMP21	118856	broad.mit.edu	37	10	127455343	127455343	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:127455343delT	uc001liu.3	-	6	1598	c.1598delA	c.(1597-1599)aagfs	p.K533fs		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	533	Hemopexin-like 4.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGTTTGTCCTTGTCATTAAC	0.363													---	57	---	---	63	---					
DENND5A	23258	broad.mit.edu	37	11	9173965	9173965	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:9173965delG	uc001mhl.3	-	12	2718	c.2461delC	c.(2461-2463)ctgfs	p.L821fs	DENND5A_uc001mhk.3_Frame_Shift_Del_p.L164fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.L821fs|DENND5A_uc010rbx.2_Intron	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	821	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAATGTAACAGGTGGGACCAT	0.473													---	130	---	---	58	---					
BAIAP3	8938	broad.mit.edu	37	16	1398015	1398021	+	Splice_Site	DEL	ACTTGTG	-	-	rs112608838		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:1398015_1398021delACTTGTG	uc002clk.2	+	32	3412	c.3254_splice	c.e32+1	p.F1085_splice	BAIAP3_uc010uuz.2_Splice_Site_p.F1050_splice|BAIAP3_uc010uva.2_Splice_Site_p.F1022_splice|BAIAP3_uc021tag.1_Splice_Site_p.F1027_splice|BAIAP3_uc002clj.3_Splice_Site_p.F1067_splice|BAIAP3_uc010uvc.1_Splice_Site_p.F1014_splice	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	1085	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAACTCTTCTACTTGTGAGTGTCCTAa	0.657													---	72	---	---	43	---					
ZNF200	7752	broad.mit.edu	37	16	3274128	3274128	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:3274128delG	uc002cuj.2	-	4	1584	c.952delC	c.(952-954)cgtfs	p.R318fs	ZNF200_uc002cum.3_Frame_Shift_Del_p.R317fs|ZNF200_uc002cuk.2_Frame_Shift_Del_p.R318fs|ZNF200_uc010bti.2_Frame_Shift_Del_p.R317fs|ZNF200_uc002cui.2_Frame_Shift_Del_p.R317fs|ZNF200_uc002cul.3_Frame_Shift_Del_p.R317fs	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GAATTCTGACGGAAGTTTTTT	0.393													---	125	---	---	109	---					
TRAF4	9618	broad.mit.edu	37	17	27074242	27074243	+	Frame_Shift_Ins	INS	-	C	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:27074242_27074243insC	uc002hcs.3	+	1	263_264	c.155_156insC	c.(154-156)ttcfs	p.F52fs	TRAF4_uc002hcq.1_Frame_Shift_Ins_p.F52fs	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	52					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GAAGGAGTCTTCAAGTGCCCTG	0.594													---	77	---	---	82	---					
PKDREJ	10343	broad.mit.edu	37	22	46655720	46655720	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr22:46655720delG	uc003bhh.3	-	0	3500	c.3500delC	c.(3499-3501)cctfs	p.P1167fs		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1167					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACAGGATTAGGGATCACAAT	0.493													---	158	---	---	50	---					
RLIM	51132	broad.mit.edu	37	X	73815805	73815805	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrX:73815805delT	uc004ebu.3	-	2	298	c.8delA	c.(7-9)aacfs	p.N3fs	RLIM_uc004ebw.3_Frame_Shift_Del_p.N3fs	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	3					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAATCTGAGTTTTCCATATT	0.358													---	38	---	---	31	---					
