Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGEF10	9639	broad.mit.edu	37	8	1872040	1872040	+	Splice_Site	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:1872040G>A	ENST00000518288.1	+	22	2723	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	ARHGEF10_ENST00000398564.1_Splice_Site_p.E855K|ARHGEF10_ENST00000520359.1_Splice_Site_p.E792K|ARHGEF10_ENST00000349830.3_Splice_Site_p.E830K|ARHGEF10_ENST00000262112.6_Splice_Site_p.E855K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	855					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCTCGCCCTAGGTAAGGCCTG	0.557000													38	35					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48685346	48685346	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:48685346G>C	ENST00000352832.5	+	24	4974	c.4602G>C	c.(4600-4602)gaG>gaC	p.E1534D	CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1523D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1557D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1534D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1534D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1534D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1500D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1557D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1534D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1557D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1534D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1534D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1557D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1557					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCGGGAGGAGAAGCGCCTAC	0.567000													3	21					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81390451	81390451	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:81390451G>A	ENST00000568107.2	+	4	857	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin		BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGTTATTTACGGGAACAGATG	0.493000													50	51					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649187	34649187	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:34649187C>T	ENST00000537011.1	+	8	3360	c.2978C>T	c.(2977-2979)tCt>tTt	p.S993F	NUTM1_ENST00000438749.3_Missense_Mutation_p.S983F|NUTM1_ENST00000333756.4_Missense_Mutation_p.S965F	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		AAAGCAACATCTTCTCACCAG	0.493000													21	29					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174278	78174278	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:78174278G>T	ENST00000216489.3	-	1	85	c.70C>A	c.(70-72)Cgg>Agg	p.R24R		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	24					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAAGTTTCCGAAAGGCGTCC	0.667000													29	36					7.01153e-11	7.34123e-11	1	1	0
WDR17	116966	broad.mit.edu	37	4	177093648	177093648	+	Missense_Mutation	SNP	T	T	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:177093648T>G	ENST00000393643.2	+	25	3522	c.3270T>G	c.(3268-3270)atT>atG	p.I1090M	WDR17_ENST00000508596.1_Missense_Mutation_p.I1075M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1089M|WDR17_ENST00000280190.4_Missense_Mutation_p.I1114M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1114										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CCCTTCCTATTGGTATTAGCT	0.303000													40	43					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25978949	25978949	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:25978949G>C	ENST00000435504.4	-	10	1267	c.974C>G	c.(973-975)tCa>tGa	p.S325*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S297*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S65*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S65*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTAAGGGCTGAGCCATTTAA	0.438000													4	48					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740227	176740227	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:176740227C>G	ENST00000367662.3	+	17	5790	c.4626C>G	c.(4624-4626)ctC>ctG	p.L1542L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1542	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCACTGCCTCCAGGACAACC	0.488000													14	83					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	rs149723440		TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:114438528G>A	ENST00000369569.1	-	9	1923	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AP4B1_ENST00000256658.4_Missense_Mutation_p.P548L|AP4B1_ENST00000369567.1_Missense_Mutation_p.P380L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	548					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498000													25	36					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100308621	100308621	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:100308621G>C	ENST00000259365.4	+	3	488	c.275G>C	c.(274-276)cGa>cCa	p.R92P	TMOD1_ENST00000395211.2_Missense_Mutation_p.R92P	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1		Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGGGAAAAACGAGGTACTGAA	0.507000													26	2					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1633731	1633731	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:1633731C>G	ENST00000409644.1	+	2	3725	c.3725C>G	c.(3724-3726)tCt>tGt	p.S1242C	WDR81_ENST00000309182.5_Missense_Mutation_p.S191C|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.S15C|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.S39C	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	15										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACAGTGGCCTCTCGCCACGTG	0.637000													10	23					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380813	65380813	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:65380813C>T	ENST00000309100.3	-	1	900	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	139	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACCAGCTCACCTCGCCAG	0.672000													32	30					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907624	60907624	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr20:60907624G>A	ENST00000252999.3	-	27	3498	c.3432C>T	c.(3430-3432)ccC>ccT	p.P1144P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1144	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACAGGCAGGGGTGCAGGG	0.716000													11	9					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006054	8006054	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:8006054G>A	ENST00000344293.5	+	3	787	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	194					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCATGAAGCGGCCTCGGCTA	0.453000													36	42					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205555251	205555251	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:205555251C>G	ENST00000367147.4	+	6	1158	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	MFSD4_ENST00000539267.1_Missense_Mutation_p.F355L|MFSD4_ENST00000536357.1_Missense_Mutation_p.F268L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	355					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCAGCCTCTTCTGGGGCTTCA	0.562000													81	4					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235439	57235439	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:57235439T>C	ENST00000335099.3	+	2	706	c.389T>C	c.(388-390)cTg>cCg	p.L130P	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.L130P|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L130P	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	130					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTCCAGGGCCTGGAGCGGCTG	0.652000													13	56					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10236713	10236713	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:10236713C>T	ENST00000511437.1	-	3	333	c.321G>A	c.(319-321)gcG>gcA	p.A107A	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Silent_p.A107A	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	107						integral to membrane		p.A107A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTTTCTTCGCAGCCGCTA	0.413000													26	33					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	by1000genomes	TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1																						CAGCTTCTTCCGCAGGAGGTC	0.647000													7	19					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2578006	2578006	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr18:2578006G>C	ENST00000261597.4	+	5	524	c.342G>C	c.(340-342)atG>atC	p.M114I		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	114	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATGTGTCCATGAAATCTCTAC	0.353000													48	59					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49281838	49281838	+	Splice_Site	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:49281838G>C	ENST00000438782.1	+	5	633	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	CCDC36_ENST00000366429.2_Intron|CCDC36_ENST00000451634.2_Intron|CCDC36_ENST00000296449.5_Splice_Site_p.E133Q|CCDC36_ENST00000452691.2_Splice_Site_p.E133Q			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	133										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTATTCTAGTGAGACTCTATA	0.299000													4	53					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223158459	223158459	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:223158459C>T	ENST00000258387.5	-	5	853	c.604G>A	c.(604-606)Gga>Aga	p.G202R	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000409828.3_3'UTR	NM_013942.4	NP_039230.1	P23760	PAX3_HUMAN	paired box 3	0					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGAAACTCCGGAGACCAGG	0.493000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						116	5					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151425	50151425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:50151425C>T	ENST00000347869.3	+	19	1835	c.1660C>T	c.(1660-1662)Cag>Tag	p.Q554*		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	554	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGAATAAGCAGAAAGAAAA	0.398000													24	24					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55283097	55283097	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr18:55283097C>G	ENST00000256854.5	-	3	659	c.204G>C	c.(202-204)aaG>aaC	p.K68N	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	68					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TATGCCACATCTTTTTAATGT	0.388000													60	87					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55282956	55282956	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr18:55282956C>G	ENST00000256854.5	-	4	714	c.259G>C	c.(259-261)Gat>Cat	p.D87H	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	87					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CGTAAACTATCTTCTGCCTAA	0.373000													44	60					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387805	30387805	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:30387805C>G	ENST00000322861.7	+	4	315	c.234C>G	c.(232-234)atC>atG	p.I78M		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	78					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			GCGGTCCCATCAACTTCACCG	0.602000													27	32					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247453	164247453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:164247453G>C	ENST00000296533.2	-	2	785	c.254C>G	c.(253-255)tCa>tGa	p.S85*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	85					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGCAAGTCTGAGAAGGAAAG	0.413000													3	62					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8206643	8206643	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:8206643G>C	ENST00000600128.1	-	8	1237	c.823C>G	c.(823-825)Cca>Gca	p.P275A	FBN3_ENST00000601739.1_Missense_Mutation_p.P275A|FBN3_ENST00000270509.2_Missense_Mutation_p.P275A			Q75N90	FBN3_HUMAN	fibrillin 3	275	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTCCAACTGGACAGCGGCAA	0.627000													23	32					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380753	65380753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:65380753C>A	ENST00000309100.3	-	1	960	c.475G>T	c.(475-477)Gag>Tag	p.E159*		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	159	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGAACGCTCTCGGCTGTCACA	0.637000													26	36					2.48779e-11	2.61297e-11	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212948	26212948	+	Silent	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chrX:26212948C>A	ENST00000379034.1	+	2	1134	c.985C>A	c.(985-987)Cgg>Agg	p.R329R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	329	MAGE.							p.R329W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGGGATGCTCGGAAGATCAT	0.502000													76	2					4.05997e-52	4.46063e-52	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004061	75004061	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chrX:75004061C>T	ENST00000373359.2	-	1	1018	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	276	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGGTTCTTCATCATGGGCA	0.493000													46	0					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113314064	113314064	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:113314064G>T	ENST00000297405.5	-	53	8642	c.8398C>A	c.(8398-8400)Ctt>Att	p.L2800I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2730I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2631I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2760I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2800	Sushi 17.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGAGGAAAGGCATTCCCTT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	34					7.41945e-09	7.67213e-09	1	1	0
SMG7	9887	broad.mit.edu	37	1	183520300	183520300	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:183520300C>G	ENST00000367537.3	+	23	3569	c.3374C>G	c.(3373-3375)tCt>tGt	p.S1125C	SMG7_ENST00000456731.2_Missense_Mutation_p.S1004C|SMG7_ENST00000508461.1_Missense_Mutation_p.S1100C|SMG7_ENST00000515829.2_Missense_Mutation_p.S1046C|SMG7_ENST00000347615.2_Missense_Mutation_p.S1092C|SMG7_ENST00000507469.1_Missense_Mutation_p.S1096C			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1092					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAGGATTCCTCTGCTGTCCTC	0.488000													25	63					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152612	58152612	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:58152612G>A	ENST00000544273.1	+	5	1121	c.794G>A	c.(793-795)aGa>aAa	p.R265K	ZNF211_ENST00000541801.1_Missense_Mutation_p.R244K|ZNF211_ENST00000347302.3_Missense_Mutation_p.R253K|ZNF211_ENST00000254182.7_Missense_Mutation_p.R244K|ZNF211_ENST00000391703.3_Missense_Mutation_p.R192K|ZNF211_ENST00000420680.1_Missense_Mutation_p.R257K|ZNF211_ENST00000299871.5_Missense_Mutation_p.R318K|ZNF211_ENST00000240731.4_Missense_Mutation_p.R266K			Q13398	ZN211_HUMAN	zinc finger protein 211	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCTCACTAGAGAAGGACTT	0.438000													9	163					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15303698	15303698	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:15303698C>T	ENST00000383791.3	-	5	814	c.594G>A	c.(592-594)gaG>gaA	p.E198E	SH3BP5_ENST00000426925.1_Silent_p.E41E|SH3BP5_ENST00000253688.5_Silent_p.E41E|SH3BP5_ENST00000408919.3_Silent_p.E41E|SH3BP5-AS1_ENST00000420195.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	198					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGAGTTTCTTCTCCAGCTGTC	0.582000													27	37					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46605606	46605606	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:46605606C>G	ENST00000275016.2	-	4	801	c.598G>C	c.(598-600)Gat>Cat	p.D200H		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	200					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TACTCAAAATCTTCATCATAA	0.338000													33	27					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73239148	73239148	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:73239148G>C	ENST00000245541.6	-	6	740	c.524C>G	c.(523-525)tCc>tGc	p.S175C	GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.S103C|GGA3_ENST00000582717.1_Missense_Mutation_p.S103C|GGA3_ENST00000538886.1_Missense_Mutation_p.S53C|GGA3_ENST00000351904.7_Missense_Mutation_p.S142C|GGA3_ENST00000578348.1_Missense_Mutation_p.S53C	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	175	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CTTTACCTTGGACTTCTCCTC	0.552000													38	54					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49701286	49701286	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:49701286C>G	ENST00000296452.4	+	8	11689	c.11575C>G	c.(11575-11577)Cag>Gag	p.Q3859E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3859					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGGGCTCCTCAGGCCCAGCC	0.582000													18	25					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43126678	43126678	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:43126678C>G	ENST00000230419.4	+	18	3066	c.2845C>G	c.(2845-2847)Ctg>Gtg	p.L949V	PTK7_ENST00000352931.2_Missense_Mutation_p.L893V|PTK7_ENST00000481273.1_Missense_Mutation_p.L957V|PTK7_ENST00000345201.2_Missense_Mutation_p.L909V|PTK7_ENST00000349241.2_Missense_Mutation_p.L819V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	949	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTGTCTGCCCTGGGCCTCAG	0.577000													13	15					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267169	43267169	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:43267169G>A	ENST00000372585.5	+	3	536	c.441G>A	c.(439-441)gcG>gcA	p.A147A	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A145A|SLC22A7_ENST00000372574.3_Silent_p.A145A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	147						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACAGAGCTGCGTCCACTTTCT	0.582000													35	40					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61818207	61818207	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:61818207G>C	ENST00000403491.3	+	5	1270	c.786G>C	c.(784-786)atG>atC	p.M262I	NFIA_ENST00000371187.3_Missense_Mutation_p.M262I|NFIA_ENST00000371191.1_Missense_Mutation_p.M285I|NFIA_ENST00000371189.4_Missense_Mutation_p.M307I|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Missense_Mutation_p.M240I|NFIA_ENST00000485903.2_Missense_Mutation_p.M262I|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.M254I	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	262					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CAGGAGCAATGAGGAGGTCTT	0.418000													35	51					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913153	29913153	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:29913153C>G	ENST00000308748.5	+	1	1113	c.861C>G	c.(859-861)ttC>ttG	p.F287L	ASPHD1_ENST00000483405.1_Missense_Mutation_p.F6L	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	287					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCAACACCTTCGGCAATGCCG	0.657000													18	30					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387975	30387975	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:30387975C>A	ENST00000322861.7	+	5	393	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	104	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CCGGAGCCTTCAAGGTCTTGG	0.617000													23	20					7.92952e-12	8.35476e-12	1	1	0
AIP	9049	broad.mit.edu	37	11	67250649	67250649	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:67250649G>C	ENST00000279146.3	+	1	138	c.20G>C	c.(19-21)aGa>aCa	p.R7T		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	7					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCATCGCAAGACTCCGGGAG	0.582000									Familial Isolated Pituitary Adenoma				14	24					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89806408	89806408	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:89806408C>T	ENST00000389301.3	-	39	3958	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1310K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1310					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTACCACTCTCTGTCAACTGA	0.512000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				74	100					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121587072	121587072	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:121587072C>T	ENST00000361976.2	+	20	3345	c.3179C>T	c.(3178-3180)tCa>tTa	p.S1060L	INPP5F_ENST00000369080.3_Missense_Mutation_p.S450L	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1060							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CCTTCTCCTTCAGAGAGCAGT	0.498000													52	52					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49211740	49211740	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:49211740G>A	ENST00000332780.2	+	3	654	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	149						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGTGTGTATGAGCCCCGTCG	0.577000													48	51					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	32					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41119318	41119318	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:41119318G>A	ENST00000308370.7	+	20	2641	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	LTBP4_ENST00000396819.3_Missense_Mutation_p.E814K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E844K|LTBP4_ENST00000545697.1_Missense_Mutation_p.E334K|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	881	Cys-rich.|EGF-like 10; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACGTGAACGAGTGCCTGGA	0.657000													12	7					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176295922	176295922	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:176295922C>T	ENST00000329542.4	+	5	952	c.678C>T	c.(676-678)atC>atT	p.I226I	UNC5A_ENST00000261961.3_Silent_p.I186I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	226	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGAACATCGTGGCACGTC	0.672000													24	26					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067947	3067947	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:3067947G>C	ENST00000397461.1	+	14	2032	c.1648G>C	c.(1648-1650)Gaa>Caa	p.E550Q	CNTN4_ENST00000397459.2_Missense_Mutation_p.E222Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E550Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E331Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E222Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E550Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	550	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGACCACTTTGAAAGAGTTGG	0.363000													46	33					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602000													3	36					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37915040	37915040	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr22:37915040G>T	ENST00000403299.1	-	2	384	c.168C>A	c.(166-168)gtC>gtA	p.V56V	CARD10_ENST00000251973.5_Silent_p.V56V			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	56	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTCGTCGATGACCCGGCACT	0.706000													6	13					3.59834e-05	3.67536e-05	1	1	0
KCNJ13	3769	broad.mit.edu	37	2	233633050	233633050	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:233633050G>C	ENST00000233826.3	-	3	1073	c.934C>G	c.(934-936)Caa>Gaa	p.Q312E	GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.Q312E|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	312						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		ATCTTGATTTGATATTCACCT	0.428000													92	12					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149907591	149907591	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:149907591G>C	ENST00000261797.6	+	3	1241	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	NDST1_ENST00000523767.1_Missense_Mutation_p.E247Q	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	247	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGCTCGTCTGAGTCCATCCC	0.647000													14	18					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191861850	191861850	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:191861850G>C	ENST00000445105.2	-	6	739	c.494C>G	c.(493-495)tCt>tGt	p.S165C	FGF12_ENST00000430714.1_Missense_Mutation_p.S128C|FGF12_ENST00000454309.2_Missense_Mutation_p.S227C|FGF12_ENST00000264730.3_Missense_Mutation_p.S165C|FGF12_ENST00000450716.1_Missense_Mutation_p.S165C	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGGTGTTCCAGAACTTTTCCT	0.418000													82	87					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250983	140250983	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:140250983G>A	ENST00000398640.2	+	1	2295	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCACCTAAGACGGACCTCA	0.632000													16	15					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27944540	27944540	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:27944540C>T	ENST00000345068.5	-	6	944	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	CORO6_ENST00000456796.3_Intron|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R244Q|CORO6_ENST00000445145.2_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	244					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GCCCAGCTCTCGCTGGCTCAT	0.692000													5	24					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964575	15964575	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:15964575G>A	ENST00000259989.6	-	1	284	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	60						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGTCGACACGAAGCCAGACT	0.577000													21	4					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6680264	6680264	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:6680264G>C	ENST00000245907.6	-	36	4453	c.4361C>G	c.(4360-4362)tCt>tGt	p.S1454C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1454	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCATCCTCAGAGTGTGAGAC	0.517000													32	42					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50346848	50346848	+	Silent	SNP	C	C	T	rs143161770		TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:50346848C>T	ENST00000394697.2	+	22	2992	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	ADCY7_ENST00000254235.3_Silent_p.S884S			P51828	ADCY7_HUMAN	adenylate cyclase 7	884	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGTTTGCCTCCGTGCCGGACT	0.532000													28	35					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744189	54744189	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:54744189G>T	ENST00000419410.2	-	6	1220	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.L407M|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.L407M|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGAAAGACAGCAGGTGGGGG	0.617000													6	150					0.0438628	0.0438628	1	1	0
CACNB2	783	broad.mit.edu	37	10	18828234	18828234	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:18828234G>A	ENST00000396576.2	+	13	1900	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	CACNB2_ENST00000377315.4_Missense_Mutation_p.V474M|CACNB2_ENST00000377331.2_Missense_Mutation_p.V470M|CACNB2_ENST00000377319.3_Missense_Mutation_p.V429M|CACNB2_ENST00000377329.4_Missense_Mutation_p.V468M|CACNB2_ENST00000377328.1_Missense_Mutation_p.V272M|CACNB2_ENST00000352115.6_Missense_Mutation_p.V498M|CACNB2_ENST00000324631.7_Missense_Mutation_p.V522M|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.V494M	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	522					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAACCTAGTGTGGAACCAGT	0.567000													28	23					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311544	86311544	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:86311544C>G	ENST00000337975.5	-	2	1772	c.1498G>C	c.(1498-1500)Gac>Cac	p.D500H	KLHL25_ENST00000536947.1_Missense_Mutation_p.D500H|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	500						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						AATTCCGTGTCACCTCCCATG	0.627000													14	99					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444501	49444501	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:49444501A>T	ENST00000301067.7	-	11	2869	c.2870T>A	c.(2869-2871)tTa>tAa	p.L957*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGTACTCTAACTCCCCCAA	0.587000													11	12					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5352147	5352147	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:5352147C>G	ENST00000225296.3	-	11	1997	c.1797G>C	c.(1795-1797)ctG>ctC	p.L599L	DHX33_ENST00000433302.3_Silent_p.L375L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	599						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGATGTCCCTCAGCTGTGCTC	0.423000													19	23					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245704078	245704078	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:245704078G>T	ENST00000366518.4	+	2	137	c.33G>T	c.(31-33)caG>caT	p.Q11H	KIF26B_ENST00000407071.2_Missense_Mutation_p.Q392H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	392					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTGCCCAGAAGTTAAATC	0.458000													93	60					7.62712e-44	8.32502e-44	1	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179290559	179290559	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:179290559C>T	ENST00000356834.3	-	22	3679	c.3642G>A	c.(3640-3642)gtG>gtA	p.V1214V	TBC1D9B_ENST00000355235.3_Silent_p.V1197V|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Silent_p.V373V|TBC1D9B_ENST00000444477.2_Silent_p.V355V	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1214						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGAAGTTCACCAGCACGG	0.577000													21	33					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197368	8197368	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:8197368G>T	ENST00000162391.3	+	6	1776	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.V211L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	211					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CACAGGATCTGTGGATGGTGG	0.522000													42	47					5.20837e-25	5.66643e-25	1	1	0
POLQ	10721	broad.mit.edu	37	3	121206680	121206680	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:121206680C>G	ENST00000264233.5	-	16	5226	c.5098G>C	c.(5098-5100)Gaa>Caa	p.E1700Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1700					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTTTTACTTCATTATTAGAA	0.313000								DNA polymerases (catalytic subunits)					42	43					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781266	5781266	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:5781266C>G	ENST00000425013.2	-	4	435	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E128Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	71					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTCATCCTCAGAATCATCC	0.453000													70	71					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402203	89402203	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:89402203G>C	ENST00000439576.2	+	12	6761	c.6387G>C	c.(6385-6387)ctG>ctC	p.L2129L	ACAN_ENST00000352105.7_Silent_p.L2129L|ACAN_ENST00000559004.1_Silent_p.L2129L|ACAN_ENST00000561243.1_Silent_p.L2129L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2129					cell adhesion		hyaluronic acid binding|sugar binding			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)			CCCCTGATCTGAGTGAAACCA	0.572000													39	35					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842932	72842932	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:72842932G>A	ENST00000293190.5	-	10	2275	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S710L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	710					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTCCTCCACCGAGCGCTGGTT	0.627000													16	34					0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8029462	8029462	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:8029462G>A	ENST00000493678.1	+	4	317	c.250G>A	c.(250-252)Gag>Aag	p.E84K	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000377491.1_Missense_Mutation_p.E84K|PARK7_ENST00000377488.1_Missense_Mutation_p.E84K|PARK7_ENST00000338639.5_Missense_Mutation_p.E84K			Q99497	PARK7_HUMAN	parkinson protein 7	84					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTATCTGAGGTAAAAAA	0.343000													22	29					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76349136	76349136	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:76349136C>G	ENST00000298832.9	+	30	3836	c.3631C>G	c.(3631-3633)Ctg>Gtg	p.L1211V	TTLL5_ENST00000556893.1_Missense_Mutation_p.L762V|TTLL5_ENST00000554510.1_Missense_Mutation_p.L720V|TTLL5_ENST00000557636.1_Missense_Mutation_p.L1226V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1211					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCCAACCACTCTGCCACAAAA	0.512000													17	66					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37376628	37376628	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:37376628G>A	ENST00000361924.2	+	17	6651	c.6277G>A	c.(6277-6279)Gag>Aag	p.E2093K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2115K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2093	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCAAAAGCTAGAGCAGGAGGA	0.418000													5	4					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122152657	122152657	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:122152657G>C	ENST00000379516.2	+	9	954	c.846G>C	c.(844-846)ttG>ttC	p.L282F	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.L165F	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	282					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		CAGGAATATTGAGGATGGTGA	0.433000													22	22					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78334155	78334155	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:78334155C>G	ENST00000397909.2	+	2	473	c.300C>G	c.(298-300)atC>atG	p.I100M	NAV3_ENST00000228327.6_Missense_Mutation_p.I100M|NAV3_ENST00000536525.2_Missense_Mutation_p.I100M|NAV3_ENST00000266692.7_Missense_Mutation_p.I100M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	100	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCGGCTGATCAAGGACTTGC	0.453000										HNSCC(70;0.22)			75	101					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37329339	37329339	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:37329339G>A	ENST00000231498.3	-	16	1969	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L	NUP155_ENST00000381843.2_Missense_Mutation_p.P530L|NUP155_ENST00000513532.1_Missense_Mutation_p.P589L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	589	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTGGAGGCGGAAGAGTGGT	0.378000													25	23					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210012395	210012395	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:210012395G>A	ENST00000491415.2	+	7	1261	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	402					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGATCCCGAGGAGAGACCACC	0.453000													35	39					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122737	41122737	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:41122737C>T	ENST00000220772.3	-	3	1231	c.894G>A	c.(892-894)atG>atA	p.M298I	SFRP1_ENST00000379845.3_Missense_Mutation_p.M162I	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	298	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCATTTTCTTCATGAAGTTTT	0.547000													23	21					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594246	140594246	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:140594246G>A	ENST00000341948.4	+	1	738	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTCACCCGCAAACGCAGT	0.488000													35	39					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74696844	74696844	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr18:74696844C>T	ENST00000355994.2	-	8	1020	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	MBP_ENST00000527041.1_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.E253K|MBP_ENST00000526111.1_Missense_Mutation_p.E98K|MBP_ENST00000397869.3_Missense_Mutation_p.E185K|MBP_ENST00000397866.4_Missense_Mutation_p.E120K|MBP_ENST00000359645.3_Missense_Mutation_p.E135K|MBP_ENST00000397865.5_Missense_Mutation_p.E109K|MBP_ENST00000382582.3_Missense_Mutation_p.E146K|MBP_ENST00000397875.3_Missense_Mutation_p.E130K|MBP_ENST00000578193.1_Missense_Mutation_p.E120K|MBP_ENST00000579129.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	253	Induces experimental autoimmune encephalomyelitis (EAE) 2.				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTCTGGCCTTCGGCCCCCTGC	0.637000													27	38					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63996989	63996989	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:63996989G>C	ENST00000279206.3	+	5	873	c.717G>C	c.(715-717)ctG>ctC	p.L239L	NUDT22_ENST00000441250.2_Silent_p.L206L|RP11-783K16.14_ENST00000534988.1_RNA	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	239	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						AGCACTACCTGAGTGGGGGAC	0.597000													54	64					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261528	25261528	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:25261528G>C	ENST00000395990.2	-	17	2242	c.1985C>G	c.(1984-1986)tCt>tGt	p.S662C	CASC1_ENST00000320267.9_Missense_Mutation_p.S702C|CASC1_ENST00000545133.1_Missense_Mutation_p.S643C|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.S708C|CASC1_ENST00000537577.1_3'UTR	NM_001204102.1	NP_001191031	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	702										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGCACACAGAGTTGACAAA	0.418000													26	20					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698843	66698843	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:66698843G>A	ENST00000247815.4	+	2	579	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	174					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CAAGGAAACTGGAAGGAAAGA	0.358000													3	68					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073146	74073146	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:74073146C>T	ENST00000329003.3	+	2	888	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	266					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGTTCCCGCTCACGCGCGCCA	0.627000													15	26					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83810490	83810490	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:83810490C>A	ENST00000349129.2	+	4	465	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q69K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q69K|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q69K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	69					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACGCCTAGCTCAATGTCTACA	0.378000													92	113					4.00701e-44	4.38801e-44	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75869116	75869116	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:75869116C>G	ENST00000377636.3	-	18	3536	c.3190G>C	c.(3190-3192)Gac>Cac	p.D1064H	TBC1D4_ENST00000425511.1_Missense_Mutation_p.D228H|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1056H|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1001H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1064	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGTGATAGTCATGAAGGAGC	0.393000													37	54					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322565	55322565	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:55322565C>T	ENST00000314644.2	+	1	783	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTATCTGCATCATAAACTTCT	0.473000										HNSCC(20;0.049)			29	30					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110908959	110908959	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:110908959G>C	ENST00000265171.5	+	17	2996	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	EGF_ENST00000503392.1_Missense_Mutation_p.E851Q|EGF_ENST00000509793.1_Missense_Mutation_p.E809Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	851	EGF-like 6.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCAGAGGGAGAGGATGCCAC	0.428000													40	68					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593204	55593204	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:55593204G>C	ENST00000201647.6	+	9	894	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E153Q|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E262Q|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E216Q	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	280						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAAGTCGGCGGAGGCGGCCAG	0.692000													32	18					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305209	114305209	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:114305209G>A	ENST00000309235.5	+	6	2152	c.1994G>A	c.(1993-1995)tGt>tAt	p.C665Y	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	665					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CCTTATAAATGTAAAGAATGT	0.408000													17	3					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048536	6048536	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:6048536G>C	ENST00000316650.5	-	1	435	c.399C>G	c.(397-399)atC>atG	p.I133M		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGTGGCAGATGGCCACAT	0.512000													10	19					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132490704	132490704	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:132490704C>G	ENST00000333577.4	+	15	3200	c.3091C>G	c.(3091-3093)Ctc>Gtc	p.L1031V	EP400_ENST00000332482.4_Missense_Mutation_p.L958V|EP400_ENST00000389562.2_Missense_Mutation_p.L994V|EP400_ENST00000389561.2_Missense_Mutation_p.L995V|EP400_ENST00000330386.6_Missense_Mutation_p.L995V			Q96L91	EP400_HUMAN	E1A binding protein p400	1031	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACTTGGTTCTCATCGACTC	0.502000													4	48					0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885672	9885672	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:9885672G>A	ENST00000327839.3	-	1	223	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	63						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						ATGTCCCACTGAAGGGACAAT	0.438000													27	32					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41271007	41271007	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:41271007G>A	ENST00000243563.3	+	6	1334	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	262	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGCAGCTCGCGATGCCCTGCA	0.572000													9	46					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917064	25917064	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:25917064G>A	ENST00000377850.3	-	8	1303	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SLC17A2_ENST00000360488.3_Missense_Mutation_p.P260L|SLC17A2_ENST00000265425.3_Missense_Mutation_p.P260L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	260					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGCTCGTCCAGGAGAACTGGG	0.502000													24	32					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509639	125509639	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:125509639C>T	ENST00000341446.8	+	3	510	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	140						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGTTCTTGTCCCTGACCCTG	0.627000													43	45					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2645003	2645003	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:2645003C>G	ENST00000382100.3	+	9	1589	c.1233C>G	c.(1231-1233)atC>atG	p.I411M	VLDLR_ENST00000382099.2_Missense_Mutation_p.I411M	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AAATTTGTATCAACTTAAAAG	0.413000													57	7					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95517911	95517911	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:95517911G>C	ENST00000371418.4	+	1	270	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000371413.3_Missense_Mutation_p.E4Q|LGI1_ENST00000542308.1_Missense_Mutation_p.E4Q	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	4					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CATGGAATCAGAAAGAAGCAA	0.443000													13	19					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094857	91094857	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:91094857G>C	ENST00000265431.3	-	1	250	c.69C>G	c.(67-69)ttC>ttG	p.F23L		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	23	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CGTCAGCGTCGAAATGGAGCC	0.493000													37	38					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966956	64966956	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:64966956G>C	ENST00000326648.3	+	4	2031	c.1903G>C	c.(1903-1905)Gaa>Caa	p.E635Q	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	635						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATGGAAAAAGAAAAATGTAA	0.438000													30	33					0	0	1	0	0
PRSS33	260429	broad.mit.edu	37	16	2835930	2835930	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:2835930C>T	ENST00000576886.1	-	3	405	c.112G>A	c.(112-114)Gtt>Att	p.V38I	PRSS33_ENST00000293851.5_Missense_Mutation_p.V38I|PRSS33_ENST00000570702.1_Missense_Mutation_p.V38I			Q8NF86	PRS33_HUMAN	protease, serine, 33	38	Peptidase S1.				proteolysis		serine-type endopeptidase activity			prostate(1)	1						CGGCCCCCAACGATCCGACTG	0.706000													16	9					0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4332029	4332029	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:4332029G>A	ENST00000600324.1	-	4	411	c.344C>T	c.(343-345)aCg>aTg	p.T115M	STAP2_ENST00000594605.1_Missense_Mutation_p.T115M	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	115	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACCACCGTTAAGATGAA	0.448000													30	30					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43645851	43645851	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr21:43645851C>T	ENST00000398457.2	+	3	379	c.119C>T	c.(118-120)tCc>tTc	p.S40F	ABCG1_ENST00000343687.3_Missense_Mutation_p.S49F|ABCG1_ENST00000347800.2_Missense_Mutation_p.S35F|ABCG1_ENST00000361802.2_Missense_Mutation_p.S38F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.S38F	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	38					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGGTGGTGTCCAGCAACATG	0.527000													34	42					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554483	28554483	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:28554483G>C	ENST00000452236.2	-	1	629	c.12C>G	c.(10-12)gtC>gtG	p.V4V	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	4					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGACCCTAGAGACTGCTTCCA	0.483000													11	19					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383673	33383673	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:33383673C>T	ENST00000374516.3	+	15	1773	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	501					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCCTCAGTTTCATCCCCATCC	0.582000													60	75					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084626	10084626	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:10084626G>T	ENST00000264828.3	-	48	3612	c.3527C>A	c.(3526-3528)cCt>cAt	p.P1176H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1176	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGACCCCGAGGACCTGGAGC	0.582000													39	35					3.62531e-18	3.86854e-18	1	1	0
FUT5	2527	broad.mit.edu	37	19	5866949	5866949	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:5866949G>C	ENST00000252675.5	-	5	1350	c.788C>G	c.(787-789)tCc>tGc	p.S263C	FUT5_ENST00000588525.1_Missense_Mutation_p.S263C			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	263					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGGGTGCAAGGAGTTCTCGAA	0.627000													33	30					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809830	31809830	+	Missense_Mutation	SNP	G	G	C	rs35708848		TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:31809830G>C	ENST00000446923.2	+	7	1910	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	ZEB1_ENST00000542815.3_Missense_Mutation_p.E456Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E524Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.E503Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.E523Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAAAAGCTTTGAAGGGGGGGT	0.373000													11	70					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35230481	35230481	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:35230481G>C	ENST00000392232.3	+	5	484	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	ZNF181_ENST00000459757.2_Missense_Mutation_p.E61Q|ZNF181_ENST00000492450.1_Missense_Mutation_p.E62Q			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGATGGAAAAGAGCCCTGGAT	0.408000													27	34					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24875309	24875309	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:24875309C>G	ENST00000504487.1	-	3	264	c.258G>C	c.(256-258)agG>agC	p.R86S	CCDC149_ENST00000502801.1_Missense_Mutation_p.R86S|CCDC149_ENST00000389609.4_Missense_Mutation_p.R86S|CCDC149_ENST00000428116.2_Missense_Mutation_p.R31S	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	86										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTACCTGTTTCCTTTTTTCAG	0.338000													12	4					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74619100	74619100	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:74619100C>T	ENST00000536019.1	+	3	684	c.239C>T	c.(238-240)tCa>tTa	p.S80L	MCU_ENST00000357157.6_Missense_Mutation_p.S129L|MCU_ENST00000373053.3_Missense_Mutation_p.S129L	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	129					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GCTATCTATTCACCAGGTATA	0.423000													48	44					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132472265	132472265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:132472265C>T	ENST00000333577.4	+	8	2456	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q710*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q746*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q747*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q747*			Q96L91	EP400_HUMAN	E1A binding protein p400	783					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGTGCATCAGCGCATTGC	0.577000													18	19					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69518060	69518060	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:69518060C>G	ENST00000294312.3	-	2	1070	c.305G>C	c.(304-306)tGc>tCc	p.C102S		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	102					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GGCGCCCATGCAGAGGTACCG	0.697000													20	502					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138262239	138262239	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:138262239G>A	ENST00000343526.4	+	14	2377	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	TRIM24_ENST00000415680.2_Missense_Mutation_p.R687Q			O15164	TIF1A_HUMAN	tripartite motif containing 24	721					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAGCCAATTCGAATAAAACAA	0.418000													33	38					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70719909	70719909	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:70719909G>A	ENST00000354185.4	+	2	533	c.435G>A	c.(433-435)gaG>gaA	p.E145E		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	145						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAACTAGAGAGAAAAGCCCCA	0.423000													33	22					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120637269	120637269	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:120637269G>A	ENST00000551150.1	-	2	389	c.74C>T	c.(73-75)cCg>cTg	p.P25L	RPLP0_ENST00000392514.4_Missense_Mutation_p.P25L|RPLP0_ENST00000313104.5_Missense_Mutation_p.P25L|RPLP0_ENST00000228306.4_Missense_Mutation_p.P25L|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Missense_Mutation_p.P25L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	25					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAACATTTCGGATAATCATC	0.478000													12	19					0	0	1	0	0
CREM	1390	broad.mit.edu	37	10	35467886	35467886	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:35467886G>C	ENST00000333809.8	+	4	439	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	CREM_ENST00000374734.3_Missense_Mutation_p.E80Q|CREM_ENST00000348787.2_Missense_Mutation_p.E64Q|CREM_ENST00000374728.3_Missense_Mutation_p.E64Q|CREM_ENST00000337656.4_Missense_Mutation_p.E80Q|CREM_ENST00000463314.1_Intron|CREM_ENST00000395895.2_Missense_Mutation_p.E129Q|CREM_ENST00000474362.1_Intron|CREM_ENST00000361599.4_Missense_Mutation_p.E50Q|CREM_ENST00000489321.1_Missense_Mutation_p.E64Q|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.E129Q|CREM_ENST00000374726.3_Missense_Mutation_p.E64Q|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000429130.3_Missense_Mutation_p.E113Q|CREM_ENST00000342105.3_Missense_Mutation_p.E25Q|CREM_ENST00000354759.3_Missense_Mutation_p.E80Q|CREM_ENST00000479070.1_Missense_Mutation_p.E80Q|CREM_ENST00000484283.1_Missense_Mutation_p.E50Q|CREM_ENST00000463960.1_Missense_Mutation_p.E25Q|CREM_ENST00000395887.3_Missense_Mutation_p.E50Q|CREM_ENST00000374721.3_Missense_Mutation_p.E113Q|CREM_ENST00000345491.3_Missense_Mutation_p.E80Q	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	129	KID.				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TAAACGTAGAGAAATCCTTTC	0.318000													17	26					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269033	16269033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:16269033G>A	ENST00000375733.2	-	14	2267	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	ZBTB17_ENST00000375743.4_Nonsense_Mutation_p.Q677*|ZBTB17_ENST00000537142.1_Nonsense_Mutation_p.Q595*			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	677	Interaction with HCFC1.|Interaction with MYC.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTGAGCTGAGTGACGGCT	0.647000													23	30					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228111900	228111900	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:228111900C>T	ENST00000272164.5	-	3	564	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	185					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCTTGACCGTCTGCCCAGGAA	0.622000													84	7					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918503	51918503	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:51918503C>G	ENST00000353836.5	-	7	1483	c.1262G>C	c.(1261-1263)gGa>gCa	p.G421A	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G363A|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G373A|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G273A|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G338A|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G363A|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G331A|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G421A|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G421A	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	421	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGTGAACTCTCCTTCGTGCTC	0.667000													18	102					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96117846	96117846	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:96117846G>A	ENST00000371361.3	-	3	444	c.344C>T	c.(343-345)tCt>tTt	p.S115F	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.S115F	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	115						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTACCTAGAAGAAAGATCTCT	0.333000													53	75					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215296	68215296	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:68215296C>G	ENST00000347230.4	-	42	7615	c.7477G>C	c.(7477-7479)Gaa>Caa	p.E2493Q		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2493					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGTGAGTGTTCTTGCTTCACA	0.557000													28	43					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698550	75698550	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:75698550G>C	ENST00000393284.3	-	8	728	c.127C>G	c.(127-129)Cta>Gta	p.L43V	CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.L275V|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.L225V			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	275							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTTCATGTAGTGTTCTTTTT	0.323000													6	38					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89382244	89382244	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:89382244G>T	ENST00000439576.2	+	3	795	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	ACAN_ENST00000352105.7_Missense_Mutation_p.D141Y|ACAN_ENST00000559004.1_Missense_Mutation_p.D141Y|ACAN_ENST00000558207.1_Missense_Mutation_p.D141Y|ACAN_ENST00000561243.1_Missense_Mutation_p.D141Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	141					cell adhesion		hyaluronic acid binding|sugar binding			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)			TGGCATCGAGGACAGCGAGGC	0.607000													4	86					0.00909568	0.00915047	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37571393	37571393	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr21:37571393C>G	ENST00000399151.3	+	3	249	c.164C>G	c.(163-165)tCc>tGc	p.S55C	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	55					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGAGGTACTCCTTGTTGCCA	0.478000													35	39					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108202678	108202678	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:108202678A>G	ENST00000278616.4	+	52	8087	c.7702A>G	c.(7702-7704)Aga>Gga	p.R2568G	ATM_ENST00000452508.2_Missense_Mutation_p.R2568G|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2568					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAATGCAAACAGAGATGAATT	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			51	40					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53337976	53337976	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:53337976C>G	ENST00000566029.1	+	31	6267	c.6058C>G	c.(6058-6060)Caa>Gaa	p.Q2020E	CHD9_ENST00000398510.3_Missense_Mutation_p.Q2020E|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2020E|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2020E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2020					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCAATATCAAGTAGCACT	0.408000													25	65					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843356	4843356	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:4843356G>A	ENST00000322110.5	+	1	806	c.741G>A	c.(739-741)gaG>gaA	p.E247E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAGAAGAGAGGCGGAAAG	0.493000													31	2					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373076	24373076	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:24373076C>G	ENST00000005284.3	+	4	2042	c.840C>G	c.(838-840)ctC>ctG	p.L280L		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	280					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGACCCTCCTCAACTCCGACC	0.552000													30	43					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102348558	102348558	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:102348558G>A	ENST00000422945.2	+	5	544	c.448G>A	c.(448-450)Gac>Aac	p.D150N	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.D174N|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.D119N|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.D119N|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.D119N|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.D119N	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	119					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCGGAATTTGACCCGGAGGA	0.468000													8	24					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597369	136597369	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:136597369C>G	ENST00000531224.1	-	5	1546	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430Q|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	432					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413000													21	199					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139734253	139734253	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:139734253G>A	ENST00000371675.3	+	13	2406	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	RABL6_ENST00000311502.7_Silent_p.K622K|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.K623K					RAB, member RAS oncogene family-like 6																		TCAGACTGAAGAATGACTCGG	0.672000													13	1					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665127	180665127	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:180665127G>C	ENST00000512805.1	-	6	1157	c.749C>G	c.(748-750)gCt>gGt	p.A250G	GNB2L1_ENST00000514455.1_Missense_Mutation_p.A34G|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.A206G|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000511900.1_Missense_Mutation_p.A202G	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	250					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCTGTGGCAGCACACAGCCA	0.512000													47	48					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162304	90162304	+	RNA	SNP	A	A	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:90162304A>G	ENST00000564451.1	+	0	1657				TUBB8P7_ENST00000567960.1_RNA																							CTGGCTCCCCAACAACGTAAA	0.502000													4	234					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383232	39383232	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:39383232C>G	ENST00000320816.6	-	10	1296	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	DAB2_ENST00000545653.1_Missense_Mutation_p.E256Q|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.E256Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	277					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGGCATTTTCAGGCAAGAAG	0.468000													37	50					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67250680	67250680	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:67250680G>A	ENST00000279146.3	+	1	169	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	17					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAAAACGTGTGATACAGGAAG	0.607000									Familial Isolated Pituitary Adenoma				16	22					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62708610	62708610	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:62708610G>A	ENST00000280377.5	+	4	446	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.E130K|USP15_ENST00000312635.6_Missense_Mutation_p.E130K|USP15_ENST00000393654.3_Missense_Mutation_p.E130K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	130					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGCAAAGTAGAAGTATATCT	0.323000													98	128					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879263	228879263	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:228879263G>A	ENST00000366691.3	+	3	1219	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	185					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCCAGTGCCTGAAGAGGCGGC	0.498000													44	61					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850653	58850653	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:58850653G>C	ENST00000329665.4	+	3	1584	c.1437G>C	c.(1435-1437)ctG>ctC	p.L479L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTCAGCCCTGATGGTTCACT	0.582000													31	61					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49360196	49360196	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:49360196G>A	ENST00000301061.4	-	5	1200	c.852C>T	c.(850-852)ttC>ttT	p.F284F	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	284					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GGGTATCAATGAAGATGGCCC	0.627000													30	38					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273332	26273332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:26273332C>T	ENST00000381655.2	+	25	2375	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.Q705*|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	705					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATTACTCAGCACTGCAC	0.438000													31	32					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108151820	108151820	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:108151820C>T	ENST00000278616.4	+	24	3886	c.3501C>T	c.(3499-3501)atC>atT	p.I1167I	ATM_ENST00000452508.2_Silent_p.I1167I	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1167					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAGCCCTATCTGCGAAAAAC	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			56	48					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75189514	75189514	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:75189514C>T	ENST00000352410.4	+	7	1074	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	MPI_ENST00000323744.6_Missense_Mutation_p.S275L|MPI_ENST00000566377.1_Intron|MPI_ENST00000535694.1_Missense_Mutation_p.S286L|MPI_ENST00000563786.1_Missense_Mutation_p.S316L			P34949	MPI_HUMAN	mannose phosphate isomerase	336					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTACCTCTCAATCTATGAC	0.517000													40	110					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35470789	35470789	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:35470789G>C	ENST00000357182.4	-	13	2125	c.1898C>G	c.(1897-1899)tCa>tGa	p.S633*	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.S633*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.S633*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	633					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTTGCCAATGACATCACACT	0.368000													39	54					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	19					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118647477	118647477	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:118647477G>T	ENST00000354673.2	-	5	680	c.300C>A	c.(298-300)acC>acA	p.T100T	IGSF11_ENST00000489689.1_Silent_p.T101T|IGSF11_ENST00000393775.2_Silent_p.T101T|IGSF11_ENST00000425327.2_Silent_p.T100T|IGSF11_ENST00000491903.1_Silent_p.T101T|IGSF11_ENST00000441144.2_Silent_p.T100T|IGSF11_ENST00000459718.1_5'UTR	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	101	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGAGACATTGGTAGCTGGCA	0.507000													32	31					4.02929e-09	4.17945e-09	1	1	0
MAP2K3	5606	broad.mit.edu	37	17	21208407	21208407	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:21208407C>G	ENST00000342679.4	+	9	990	c.741C>G	c.(739-741)gtC>gtG	p.V247V	MAP2K3_ENST00000361818.5_Silent_p.V218V|MAP2K3_ENST00000316920.6_Silent_p.V218V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	247	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTACAATGTCAAGTCCGACG	0.647000													35	132					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927747	75927747	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:75927747C>T	ENST00000274364.6	+	15	1973	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.S112F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S118F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S112F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	559					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GATATTTTGTCTGTATTGAAG	0.363000													31	32					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	409226	409226	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:409226G>T	ENST00000280886.6	-	21	2590	c.2503C>A	c.(2503-2505)Ctg>Atg	p.L835M	DIP2C_ENST00000540204.1_Missense_Mutation_p.L156M|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	835						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTCGTGCAGCACGGTCACC	0.652000													17	31					5.35267e-07	5.48402e-07	1	1	0
FBN2	2201	broad.mit.edu	37	5	127624927	127624927	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:127624927C>G	ENST00000508053.1	-	58	7503	c.6529G>C	c.(6529-6531)Gag>Cag	p.E2177Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2177Q			P35556	FBN2_HUMAN	fibrillin 2	2177	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTGGGCTCTCAAGACACTCA	0.438000													48	61					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139345835	139345835	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:139345835G>A	ENST00000313050.7	-	21	6258	c.6185C>T	c.(6184-6186)tCg>tTg	p.S2062L	SEC16A_ENST00000371706.3_Missense_Mutation_p.S1884L|SEC16A_ENST00000290037.6_Missense_Mutation_p.S1884L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1884L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1884	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGGGCCTCCGAGTCTGGCAC	0.642000													13	0					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45797818	45797818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr20:45797818C>G	ENST00000327619.5	+	11	1384	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	EYA2_ENST00000317304.6_Nonsense_Mutation_p.S307*|EYA2_ENST00000357410.3_Nonsense_Mutation_p.S337*	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	337					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GATGACGTCTCATCAGATGAC	0.413000													40	66					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88983152	88983152	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:88983152G>A	ENST00000237596.2	+	10	2180	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	PKD2_ENST00000508588.1_Missense_Mutation_p.R123K|PKD2_ENST00000502363.1_Missense_Mutation_p.R123K|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	705	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GATCTTATCAGAAAGGTAGGA	0.338000													16	35					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29355041	29355041	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:29355041G>C	ENST00000320081.5	+	4	552	c.297G>C	c.(295-297)gtG>gtC	p.V99V	CLIP4_ENST00000401605.1_Silent_p.V99V|CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000404424.1_Silent_p.V99V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	99										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GTTGCAATGTGAATGATAGAG	0.383000													40	4					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65691751	65691751	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:65691751G>A	ENST00000395334.2	+	6	921	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	AK4_ENST00000546702.1_Missense_Mutation_p.R136Q|AK4_ENST00000545314.1_Missense_Mutation_p.R188Q|AK4_ENST00000327299.7_Missense_Mutation_p.R188Q	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	188						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TTCAGGAGCCGAGGAGTGCTC	0.413000													10	12					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338677	72338677	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:72338677G>A	ENST00000356056.5	-	2	700	c.228C>T	c.(226-228)ctC>ctT	p.L76L	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.L76L|MYO9A_ENST00000444904.1_Silent_p.L76L|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Silent_p.L76L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	76	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGTTGGATTGAGAATCCATT	0.428000													37	37					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050374	110050374	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:110050374G>A	ENST00000369864.4	-	2	1510	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	AMIGO1_ENST00000369862.1_Silent_p.V387V			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	387					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTATATGAGGACCAGGACCA	0.527000													28	33					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:43032078C>T	ENST00000428554.2	+	13	1930	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263								p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408000													37	39					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30733138	30733138	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr22:30733138G>T	ENST00000215793.8	-	13	2137	c.1983C>A	c.(1981-1983)gtC>gtA	p.V661V	SF3A1_ENST00000439242.1_Silent_p.V596V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGGAGCTGGGACAGGTGCCA	0.592000													31	24					4.15321e-07	4.26822e-07	1	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20240702	20240702	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:20240702G>A	ENST00000361479.5	+	10	2225	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MPHOSPH8_ENST00000414242.2_Silent_p.L719L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	719					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACGACTTGCTGAAGAACCATT	0.403000													42	60					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65335121	65335121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:65335121G>A	ENST00000342505.4	-	6	768	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	174	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTGGGGTCTCGAATAGGAGCC	0.498000			Mis		ALL								36	4					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416281	178416281	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:178416281C>G	ENST00000408939.3	-	1	1461	c.1211G>C	c.(1210-1212)aGa>aCa	p.R404T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTCATCATCTCTATTGTGTCT	0.428000													166	15					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65381077	65381077	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:65381077C>G	ENST00000309100.3	-	1	636	c.151G>C	c.(151-153)Gac>Cac	p.D51H		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	51	Gly-rich.|SH3.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCTCGTAGTCGAACAGGGCT	0.682000													25	37					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196695	8196695	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:8196695G>A	ENST00000600128.1	-	15	2147	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M	FBN3_ENST00000601739.1_Missense_Mutation_p.T578M|FBN3_ENST00000270509.2_Missense_Mutation_p.T578M			Q75N90	FBN3_HUMAN	fibrillin 3	578	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATGCCGGGCGTCTGGCACTC	0.657000													10	5					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850799	35850799	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:35850799G>A	ENST00000327809.4	+	2	1208	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	FFAR3_ENST00000594310.1_Missense_Mutation_p.G336E	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	336						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAGGGCTGTGGAACTGGTGGC	0.617000													3	8					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54965166	54965166	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:54965166C>T	ENST00000394636.4	+	1	393	c.56C>T	c.(55-57)tCg>tTg	p.S19L	IRX5_ENST00000560154.1_Missense_Mutation_p.S19L|IRX5_ENST00000320990.5_Missense_Mutation_p.S19L			P78411	IRX5_HUMAN	iroquois homeobox 5	19					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCTCTACTCGTGCCCGGCG	0.701000													11	24					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													6	13					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042605	242042605	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:242042605C>G	ENST00000366548.3	+	13	2662	c.2069C>G	c.(2068-2070)tCa>tGa	p.S690*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.S690*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.S690*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	690	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCAAATGCATCAAAGCTTTCT	0.408000								Editing and processing nucleases					40	18					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608404	4608404	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:4608404C>G	ENST00000312614.4	+	1	384	c.362C>G	c.(361-363)tCa>tGa	p.S121*		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGACAGCTCAATCAGCTTT	0.502000													4	58					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55529049	55529049	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:55529049G>A	ENST00000436346.1	-	27	5472	c.4631C>T	c.(4630-4632)tCt>tTt	p.S1544F	CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1543F|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1543F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1516F	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1544					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCCTGCAGAAGAGTTGACAGT	0.388000													69	12					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117077007	117077007	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:117077007C>G	ENST00000320934.3	-	17	2694	c.2064G>C	c.(2062-2064)ttG>ttC	p.L688F	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	688			L -> V (in dbSNP:rs608620).		peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCTCTGGCTCAAATATACTT	0.547000			T	IGH@	MLCLS								18	16					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178417480	178417480	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:178417480C>G	ENST00000408939.3	-	1	262	c.12G>C	c.(10-12)ctG>ctC	p.L4L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCGCGCCGCTCAGGCCAGCCA	0.627000													4	13					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866272	48866272	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:48866272G>A	ENST00000314191.2	-	7	685	c.629C>T	c.(628-630)tCa>tTa	p.S210L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S210L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	210					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTTACTGCTGATGTCATCTA	0.408000								Non-homologous end-joining					14	14					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208239	14208239	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:14208239G>T	ENST00000308677.4	-	8	895	c.699C>A	c.(697-699)gcC>gcA	p.A233A	PRKACA_ENST00000589994.1_Silent_p.A225A|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	233	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTAGCCAGCGGCCATTTCAT	0.612000													24	31					1.22574e-08	1.26357e-08	1	1	0
GTF2H4	2968	broad.mit.edu	37	6	30880886	30880886	+	Splice_Site	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:30880886G>C	ENST00000259895.4	+	12	1312		c.e12-1		GTF2H4_ENST00000376316.2_Splice_Site	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTTTTCCTAGATAATCCATT	0.473000								Nucleotide excision repair (NER)					45	39					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21969985	21969985	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:21969985C>T	ENST00000298717.4	-	4	935	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	262					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CGAAATTTTTCAACAATGGAT	0.453000													23	55					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874788	4874788	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:4874788G>A	ENST00000399583.3	-	4	1053	c.866C>T	c.(865-867)tCa>tTa	p.S289L	RADIL_ENST00000538469.1_Missense_Mutation_p.S49L|RADIL_ENST00000536091.1_Missense_Mutation_p.S289L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	289					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTCGGGGGCTGAGAGGCTGAT	0.697000													7	9					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425575	74425575	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:74425575C>G	ENST00000429990.1	+	7	1025	c.929C>G	c.(928-930)cCt>cGt	p.P310R						nuclear pore complex interacting protein family, member B15																		CCACCCTCTCCTCTTCCACCC	0.493000													26	174					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032540	12032540	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:12032540C>G	ENST00000415385.3	+	10	1062	c.1009C>G	c.(1009-1011)Ccg>Gcg	p.P337A	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P326A	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	326	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGAGATCCTCCGCAGCTGAG	0.428000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								33	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49446775	49446775	+	Silent	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:49446775G>C	ENST00000301067.7	-	8	1034	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCGGTGACAGAGAGAGTAGT	0.607000													60	56					0	0	1	0	0
C10orf55	414236	broad.mit.edu	37	10	75671770	75671770	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:75671770G>A	ENST00000409178.1	-	5	469	c.129C>T	c.(127-129)atC>atT	p.I43I	PLAU_ENST00000446342.1_Intron|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000494287.1_Intron|C10orf55_ENST00000412307.2_Silent_p.I43I	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	43										endometrium(1)	1	Prostate(51;0.0112)					TGGGACCTTTGATGAAGCCTC	0.537000													34	34					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108153497	108153497	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:108153497C>A	ENST00000278616.4	+	25	4022	c.3637C>A	c.(3637-3639)Cat>Aat	p.H1213N	ATM_ENST00000452508.2_Missense_Mutation_p.H1213N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1213					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TATGGCATCTCATTTAGATTA	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			38	55					2.19358e-23	2.37105e-23	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113374159	113374159	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:113374159C>T	ENST00000316407.4	-	7	6780	c.6370G>A	c.(6370-6372)Gat>Aat	p.D2124N	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.D2124N	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2124					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTGAAATATCATTGGACAGT	0.428000													40	66					0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33369967	33369967	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:33369967G>T	ENST00000431156.2	-	2	783	c.165C>A	c.(163-165)ctC>ctA	p.L55L	TTI2_ENST00000520636.1_Silent_p.L55L|TTI2_ENST00000360742.5_Silent_p.L55L	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	55							binding										TTAGATCACCGAGGTCTTTAA	0.532000													32	49					1.836e-18	1.96546e-18	1	1	0
AFF4	27125	broad.mit.edu	37	5	132216777	132216777	+	Missense_Mutation	SNP	G	G	A	rs112871745		TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:132216777G>A	ENST00000265343.5	-	21	3845	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1156					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCATCCTGGCGAAGCCAGTGC	0.448000													33	33					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49927360	49927360	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:49927360G>A	ENST00000296474.3	-	19	3971	c.3944C>T	c.(3943-3945)tCt>tTt	p.S1315F	MST1R_ENST00000344206.4_Missense_Mutation_p.S1266F	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1315	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACTCACAGAGAATCAGGGCA	0.597000													5	25					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90661491	90661491	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:90661491C>G	ENST00000371927.3	+	2	984	c.26C>G	c.(25-27)tCt>tGt	p.S9C	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S9C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S9C			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	9							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ACTGTGAATTCTCTGGTAGGT	0.363000													33	48					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650455	89650455	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:89650455C>T	ENST00000268720.5	+	6	807	c.677C>T	c.(676-678)tCg>tTg	p.S226L	CPNE7_ENST00000319518.8_Missense_Mutation_p.S151L	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	226					lipid metabolic process		transporter activity	p.S226L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGGACATCTCGGGGAACAAC	0.711000													17	25					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11348134	11348134	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:11348134C>T	ENST00000294618.7	-	18	2082	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	DOCK6_ENST00000319867.7_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	691	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCACATACATCGGGTGTGAGC	0.627000													18	20					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275196	35275196	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:35275196G>T	ENST00000356321.4	-	3	784	c.440C>A	c.(439-441)tCt>tAt	p.S147Y		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CATGGGATCAGACTTAGAGCA	0.398000													45	60					9.84934e-19	1.05777e-18	1	1	0
KIAA1033	23325	broad.mit.edu	37	12	105553817	105553817	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:105553817C>T	ENST00000332180.5	+	29	3038	c.2951C>T	c.(2950-2952)tCt>tTt	p.S984F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	984					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ACACGAAATTCTGCCGAAGGC	0.353000													4	94					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128819671	128819671	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:128819671C>G	ENST00000270861.5	+	16	3162	c.2888C>G	c.(2887-2889)tCt>tGt	p.S963C	PLK4_ENST00000514379.1_Missense_Mutation_p.S922C|PLK4_ENST00000507249.1_Missense_Mutation_p.S902C|PLK4_ENST00000513090.1_Missense_Mutation_p.S931C|PLK4_ENST00000515069.1_Missense_Mutation_p.S885C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	963					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						TTGATGTTTTCTAATCCGACT	0.274000													42	61					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988787	154988787	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:154988787G>C	ENST00000368426.3	+	4	1383	c.1246G>C	c.(1246-1248)Gac>Cac	p.D416H	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D416H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D450H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D416H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	416					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCTACGACCTCAAGAA	0.627000													23	63					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589928	140589928	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:140589928C>T	ENST00000239450.2	+	1	1638	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	PCDHB12_ENST00000541609.1_Silent_p.N146N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		483	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCACCAACGCCCAGGTCA	0.647000													73	90					0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65653032	65653032	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:65653032G>A	ENST00000338369.2	-	5	727	c.615C>T	c.(613-615)ctC>ctT	p.L205L	FIBP_ENST00000357519.4_Silent_p.L205L|FIBP_ENST00000533045.1_Silent_p.L202L	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	205					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TTTGGATCATGAGCTCAGCGC	0.552000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	69					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235956879	235956879	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:235956879G>C	ENST00000389794.3	-	11	4214	c.4040C>G	c.(4039-4041)tCt>tGt	p.S1347C	LYST_ENST00000536965.1_Missense_Mutation_p.S1347C|LYST_ENST00000389793.2_Missense_Mutation_p.S1347C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1347					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTCATCAAAGATACCAAAAG	0.318000													58	69					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	24048873	24048873	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:24048873C>T	ENST00000546136.1	-	1	87	c.85G>A	c.(85-87)Gag>Aag	p.E29K	SOX5_ENST00000309359.1_Missense_Mutation_p.E29K|SOX5_ENST00000541536.1_Missense_Mutation_p.E29K|SOX5_ENST00000537393.1_Missense_Mutation_p.E42K|SOX5_ENST00000541847.1_Missense_Mutation_p.E32K|SOX5_ENST00000381381.2_Missense_Mutation_p.E29K|SOX5_ENST00000441133.2_Missense_Mutation_p.E42K|SOX5_ENST00000451604.2_Missense_Mutation_p.E42K|SOX5_ENST00000545921.1_Missense_Mutation_p.E32K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	42					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCACTCTCCTCTTCTTCCACT	0.522000													11	183					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42749375	42749375	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:42749375G>A	ENST00000263805.4	-	1	355	c.29C>T	c.(28-30)tCa>tTa	p.S10L	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		AGAGGGAGATGAGGGACATTC	0.488000													21	28					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993867	106993867	+	RNA	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:106993867G>A	ENST00000390624.2	-	0	376																											TTCATTTGCAGATACAGTGAG	0.493000													8	139					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512294	248512294	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:248512294C>G	ENST00000317861.1	+	1	218	c.218C>G	c.(217-219)tCt>tGt	p.S73C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGCTACATTTCTGTTACAGTC	0.478000													70	45					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2296929	2296929	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:2296929C>T	ENST00000301729.4	-	3	272	c.225G>A	c.(223-225)ctG>ctA	p.L75L	ECI1_ENST00000562238.1_Silent_p.L75L|ECI1_ENST00000570258.1_Silent_p.L16L	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	75					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						CCAGCTCCGTCAGAAACTCCA	0.532000													31	39					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13545983	13545983	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:13545983G>C	ENST00000295757.3	+	10	1027	c.844G>C	c.(844-846)Gat>Cat	p.D282H	HDAC11_ENST00000522202.1_Missense_Mutation_p.D231H|HDAC11_ENST00000402271.1_Missense_Mutation_p.D203H|HDAC11_ENST00000446613.2_Missense_Mutation_p.D90H|HDAC11_ENST00000402259.1_Missense_Mutation_p.D116H|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.D254H|HDAC11_ENST00000404040.1_Missense_Mutation_p.D182H|HDAC11_ENST00000405025.1_3'UTR|HDAC11_ENST00000404548.1_3'UTR	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	282	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CGTGAAGCGGGATGAGCTGGT	0.632000													10	25					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88819989	88819989	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:88819989C>T	ENST00000277865.4	-	9	1303	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GLUD1_ENST00000537649.1_Missense_Mutation_p.E236K|GLUD1_ENST00000544149.1_Missense_Mutation_p.E270K	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	403					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGGCACCTTCAGCAATGATC	0.438000													51	183					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207726	58207726	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:58207726C>T	ENST00000377918.3	+	1	1072	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	349	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACAATGCGCCGTCCATCGGT	0.667000													32	4					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751282	6751282	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:6751282G>T	ENST00000230859.6	+	11	1370	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	414					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACCACTTCCAGAACACTGATC	0.577000													29	44					7.26314e-15	7.70124e-15	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50214050	50214050	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:50214050C>T	ENST00000392518.4	+	16	2174	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M	CPT1C_ENST00000598293.1_Missense_Mutation_p.T601M|CPT1C_ENST00000405931.2_Missense_Mutation_p.T590M|CPT1C_ENST00000323446.5_Missense_Mutation_p.T601M|CPT1C_ENST00000354199.5_Missense_Mutation_p.T601M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	601					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGGACGGAGACGGTGCGGTCT	0.582000													24	62					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530815	140530815	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr5:140530815C>T	ENST00000231136.1	+	1	977	c.977C>T	c.(976-978)tCa>tTa	p.S326L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S190L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCAGGAAAATGC	0.468000													36	46					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64989954	64989954	+	RNA	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:64989954G>C	ENST00000525437.1	+	0	852							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GTGGCTTCCAGAGTCATCCCG	0.552000													15	14					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301715	42301715	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:42301715C>G	ENST00000357396.3	+	2	500	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	CEACAM3_ENST00000344550.4_Missense_Mutation_p.Q87E|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.Q87E	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	87	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATAGGAACTCAACAAGCTAC	0.473000													194	106					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518453	106518453	+	RNA	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:106518453G>A	ENST00000390598.2	-	0	376																											TTCATTTGCAGATACAGTGAG	0.512000													9	327					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286884	84286884	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:84286884G>C	ENST00000324537.5	+	12	1405	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	SH3GL3_ENST00000427482.2_Missense_Mutation_p.E297Q|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E305Q|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	297	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CTATGACTTTGAGCCAGAAAA	0.398000													3	59					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698400	169698400	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:169698400G>C	ENST00000333360.7	-	7	1156	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	SELE_ENST00000367776.1_Missense_Mutation_p.F339L|SELE_ENST00000367779.4_Missense_Mutation_p.F339L|SELE_ENST00000367774.1_Missense_Mutation_p.F339L|SELE_ENST00000367782.4_Missense_Mutation_p.F339L|SELE_ENST00000367777.1_Missense_Mutation_p.F339L|SELE_ENST00000367775.1_Missense_Mutation_p.F277L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F339L|SELE_ENST00000367780.4_Missense_Mutation_p.F277L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	339	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTGCAACATGAAGCCTTCCT	0.527000													23	65					0	0	1	0	0
ULBP1	80329	broad.mit.edu	37	6	150291163	150291163	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:150291163C>G	ENST00000229708.3	+	4	680	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1						antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		ACCACCCTCTCTGGCCCCAGG	0.562000													8	8					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986710	165986710	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:165986710C>G	ENST00000360093.3	-	17	3153	c.2662G>C	c.(2662-2664)Gtg>Ctg	p.V888L	SCN3A_ENST00000409101.3_Missense_Mutation_p.V839L|SCN3A_ENST00000283254.7_Missense_Mutation_p.V888L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	888						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGGCCAACACCAAGGTGAGG	0.443000													15	135					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544995	31544995	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:31544995C>G	ENST00000449264.2	+	4	558	c.383C>G	c.(382-384)tCa>tGa	p.S128*		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	128					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	GTGGTGCCATCAGAGGGCCTG	0.632000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				45	49					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135739089	135739089	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:135739089G>A	ENST00000298545.3	-	4	817	c.296C>T	c.(295-297)aCg>aTg	p.T99M	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	99						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTCGGTGGCCGTATAGGAAAA	0.532000													5	15					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40777878	40777878	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr21:40777878G>C	ENST00000358268.2	-	10	2471	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.S648C|LCA5L_ENST00000380671.2_Missense_Mutation_p.S648C			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	648										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGTTACTTTAGAGTCTCCGAA	0.423000													36	28					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222632	44222632	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:44222632G>A	ENST00000393812.3	-	4	1253	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.I277I|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Silent_p.I237I	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	370					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGGGTCATGATGATGGTGA	0.577000													13	16					0	0	1	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8391338	8391338	+	RNA	SNP	T	T	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:8391338T>C	ENST00000304751.9	+	0	591				FAM86FP_ENST00000427893.2_RNA														p.K53R(1)									CACAGGATGCTTCACAGTCTA	0.527000													3	50					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48485965	48485965	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:48485965C>T	ENST00000273861.4	+	1	606	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	129						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGAACCACTTCGGGGCGCACG	0.706000													4	1					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52585601	52585601	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr12:52585601G>A	ENST00000313234.5	-	1	183	c.86C>T	c.(85-87)tCa>tTa	p.S29L	KRT80_ENST00000394815.2_Missense_Mutation_p.S29L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	29	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GTCCCATCCTGAGGTTCCAGG	0.706000													5	6					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	72					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24759500	24759500	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chrX:24759500C>G	ENST00000379068.3	+	21	2268	c.2225C>G	c.(2224-2226)tCt>tGt	p.S742C	POLA1_ENST00000379059.3_Missense_Mutation_p.S736C			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	736					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AGTGAATCTTCTCAACTGTTA	0.338000													35	0					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26862217	26862217	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr22:26862217C>T	ENST00000398145.2	-	9	1297	c.681G>A	c.(679-681)acG>acA	p.T227T	HPS4_ENST00000336873.5_Silent_p.T227T|HPS4_ENST00000398141.1_Silent_p.T222T|HPS4_ENST00000402105.3_Silent_p.T222T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	227					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATCCTCTCCCGTAGGGAGTC	0.512000									Hermansky-Pudlak syndrome				13	29					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066384	23066384	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr20:23066384G>C	ENST00000246006.4	-	1	593	c.446C>G	c.(445-447)tCc>tGc	p.S149C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	149	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGCGGCTGGGACAGGTCCAG	0.642000													8	16					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88818977	88818977	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:88818977C>T	ENST00000277865.4	-	10	1428	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K	GLUD1_ENST00000537649.1_Silent_p.K277K|GLUD1_ENST00000544149.1_Silent_p.K311K	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	444					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	GATTTAGATTCTTCAGCCACT	0.383000													36	179					0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42854069	42854069	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:42854069C>T	ENST00000493763.1	+	6	911	c.608C>T	c.(607-609)tCa>tTa	p.S203L	RPL7L1_ENST00000304734.5_Missense_Mutation_p.S203L|RPL7L1_ENST00000424341.2_3'UTR|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	203					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			CAGGAGATCTCATGGTTCTTG	0.493000													37	32					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75283496	75283496	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:75283496G>A	ENST00000339859.4	-	16	2307	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S586F|USP54_ENST00000408019.1_Missense_Mutation_p.S736F			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	736					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTTTTAGAAGATATCTCCTC	0.438000													62	90					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58353095	58353095	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:58353095G>C	ENST00000442832.4	+	3	1287	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.E351D|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	351					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										ACACTGGAGAGAGACCTTACA	0.443000													12	17					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45553354	45553354	+	Missense_Mutation	SNP	T	T	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:45553354T>G	ENST00000379161.4	-	5	751	c.705A>C	c.(703-705)gaA>gaC	p.E235D		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	235					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACCGTGCAATTTCCTCTGGAG	0.413000													40	4					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471409	146471409	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:146471409C>A	ENST00000361727.3	+	2	660	c.144C>A	c.(142-144)ttC>ttA	p.F48L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	48	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTTTCAGCAGCTCCT	0.428000										HNSCC(39;0.1)			17	28					0.000422831	0.000426664	1	1	0
SLC17A2	10246	broad.mit.edu	37	6	25916039	25916039	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:25916039C>T	ENST00000377850.3	-	9	1512	c.988G>A	c.(988-990)Ggt>Agt	p.G330S	SLC17A2_ENST00000360488.3_Missense_Mutation_p.G330S|SLC17A2_ENST00000265425.3_Missense_Mutation_p.G330S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	330					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCCAGCTGACCTCCTAAAATT	0.438000													18	25					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11959632	11959632	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:11959632G>C	ENST00000256720.2	+	18	2410	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	LPIN1_ENST00000425416.2_Missense_Mutation_p.E779Q|LPIN1_ENST00000396099.1_Missense_Mutation_p.E815Q|LPIN1_ENST00000396097.1_Missense_Mutation_p.E503Q|LPIN1_ENST00000404113.2_Missense_Mutation_p.E274Q|LPIN1_ENST00000449576.2_Missense_Mutation_p.E858Q	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	773	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAAGAAGCCAGAAAAGTTTAA	0.373000													79	7					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628141	48628141	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:48628141C>A	ENST00000328333.8	-	13	1852	c.1745G>T	c.(1744-1746)cGt>cTt	p.R582L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R582L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	582	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGCCCTCACGGGGACCCAC	0.617000													24	29					1.64293e-13	1.73652e-13	1	1	0
XPR1	9213	broad.mit.edu	37	1	180832932	180832932	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:180832932C>G	ENST00000367590.4	+	12	1788	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	XPR1_ENST00000367589.3_Silent_p.L465L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	530	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTGGGATCTCAAGATGGACT	0.428000													53	138					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38528993	38528993	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr21:38528993G>T	ENST00000399017.2	+	28	5524	c.2777G>T	c.(2776-2778)gGa>gTa	p.G926V	TTC3_ENST00000355666.1_Missense_Mutation_p.G926V|TTC3_ENST00000354749.2_Missense_Mutation_p.G926V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	926					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCTCGTTATGGAGCATCTCTT	0.338000													29	44					0.000184323	0.000187125	1	1	0
ZNF320	162967	broad.mit.edu	37	19	53384382	53384382	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:53384382C>T	ENST00000595635.1	-	8	1498	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E333K|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTGTCGCATTCTTCACATCTG	0.403000													41	139					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70738725	70738725	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:70738725G>A	ENST00000354185.4	+	13	2128	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	677						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTCTCAAAGGAAAGCTGGTA	0.453000													39	61					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410617	103410617	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr14:103410617G>C	ENST00000361246.2	-	30	4307	c.4019C>G	c.(4018-4020)tCt>tGt	p.S1340C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1340	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGGTGCCAGAGTTCCTCTT	0.547000													27	25					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972790	32972790	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:32972790C>G	ENST00000544455.1	+	27	10367	c.10140C>G	c.(10138-10140)ctC>ctG	p.L3380L	BRCA2_ENST00000380152.3_Silent_p.L3380L	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3380					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGATTATCTCAGACTGAAAC	0.408000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	62					0	0	1	0	0
SEPW1	6415	broad.mit.edu	37	19	48282063	48282063	+	Silent	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:48282063C>G	ENST00000601048.1	+	1	235	c.21C>G	c.(19-21)gtC>gtG	p.V7V	SEPW1_ENST00000595615.1_Silent_p.V7V|SEPW1_ENST00000593892.1_Silent_p.V7V|SEPW1_ENST00000509570.2_Silent_p.V7V|SEPW1_ENST00000601419.1_3'UTR	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1	7					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CCGTCCGAGTCGTTTATTGGT	0.721000													12	7					0	0	1	0	0
ZNF580	51157	broad.mit.edu	37	19	56154289	56154289	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:56154289C>G	ENST00000543039.1	+	1	872	c.415C>G	c.(415-417)Cgc>Ggc	p.R139G	ZNF580_ENST00000545125.1_Missense_Mutation_p.R139G|ZNF580_ENST00000325333.5_Missense_Mutation_p.R139G|ZNF581_ENST00000587252.1_Intron	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTCGCGGCATCGCGCCACGCA	0.756000													4	2					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	82					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106168	9106168	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:9106168G>A	ENST00000383836.3	-	5	1011	c.584C>T	c.(583-585)tCa>tTa	p.S195L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S195L|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	195					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGTCTCCTGACTTATTGAA	0.552000			T	RAF1	pilocytic astrocytoma								40	55					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791913	5791913	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:5791913G>C	ENST00000328090.5	+	15	7154	c.6529G>C	c.(6529-6531)Gtg>Ctg	p.V2177L		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2177																	AAGAAGTGTTGTGAAAGAGGC	0.428000													18	15					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75907749	75907749	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:75907749T>C	ENST00000322563.3	-	2	221	c.97A>G	c.(97-99)Aca>Gca	p.T33A		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	33					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCCGATGGTGTCTTGGACAGC	0.627000													5	7					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36470803	36470803	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr20:36470803G>C	ENST00000405275.2	+	14	1536	c.1293G>C	c.(1291-1293)aaG>aaC	p.K431N	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.K271N|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.K206N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.K458N|CTNNBL1_ENST00000473857.1_3'UTR	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	458					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGACAAGAAGATTGAAGGGG	0.478000													19	22					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104497439	104497439	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:104497439C>G	ENST00000369893.5	+	12	1056	c.889C>G	c.(889-891)Ctg>Gtg	p.L297V		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGTTTCCTATCTGGAACCGAA	0.443000													52	40					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120438	21120438	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:21120438G>A	ENST00000377122.4	-	15	1920	c.1524C>T	c.(1522-1524)gtC>gtT	p.V508V	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	508					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAGCTCTCTGGACATCAAGAG	0.413000													16	31					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575736	49575736	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr20:49575736G>A	ENST00000244051.1	+	1	374	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	119					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme 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						TGGTAGAGATGAGCAACCTGG	0.672000													9	74					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509912	71509912	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:71509912C>G	ENST00000396073.3	+	9	3050	c.2769C>G	c.(2767-2769)atC>atG	p.I923M	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	923					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAGATATCATCTCCCCAACAA	0.488000													33	37					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20070301	20070301	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:20070301G>A	ENST00000276390.2	+	9	852	c.812G>A	c.(811-813)cGa>cAa	p.R271Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	271					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGCATTGAGCGAATTATCACT	0.383000													4	169					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072004	34072004	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:34072004C>G	ENST00000254466.6	-	6	2539	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.E822Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	838					cell cycle arrest	cytoplasm|cytoskeleton		p.E838*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		tcctcctcctcctcACCTACT	0.627000													31	19					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165880	3165880	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr8:3165880C>G	ENST00000602557.1	-	25	4335	c.3780G>C	c.(3778-3780)ttG>ttC	p.L1260F	CSMD1_ENST00000537824.1_Missense_Mutation_p.L1259F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1260F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1260F|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1260F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1259F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1259F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1260	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTCCACTCAAACAGGTCA	0.527000													19	28					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194150428	194150428	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:194150428G>A	ENST00000439040.1	-	27	3644	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	ATP13A3_ENST00000256031.4_Silent_p.F951F			Q9H7F0	AT133_HUMAN	ATPase type 13A3	951					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAGTAACACTGAAGTACTGGA	0.378000													30	43					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:89084114G>A	ENST00000393525.3	+	0	576																											TTGCTTTTCAGTGTCTTCTCA	0.313000													3	44					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524512	112524512	+	Silent	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:112524512G>A	ENST00000369697.1	-	1	906	c.837C>T	c.(835-837)aaC>aaT	p.N279N	KCND3_ENST00000315987.2_Silent_p.N279N|KCND3_ENST00000302127.4_Silent_p.N279N			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	279						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACACGTCCTCGTTGTTGGTCA	0.617000													37	45					0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48183423	48183423	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:48183423C>G	ENST00000503176.1	+	4	668	c.507C>G	c.(505-507)atC>atG	p.I169M	PDK2_ENST00000007708.3_Missense_Mutation_p.I105M	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	169	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCATGCTCATCAACCAGCACA	0.667000									Autosomal Dominant Polycystic Kidney Disease				4	5					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930853	153930853	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:153930853C>G	ENST00000368633.1	-	1	248	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	41					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCACCTCCTCGAAGGCCGCC	0.677000													15	6					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318796	6318796	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:6318796G>T	ENST00000264870.3	-	2	367	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	34					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGGCACCACGCCCTGAAGCT	0.617000													51	54					1.51926e-22	1.63688e-22	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94913496	94913496	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:94913496G>C	ENST00000289495.5	+	15	3559	c.3343G>C	c.(3343-3345)Gag>Cag	p.E1115Q	PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E1133Q|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E1133Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E1155Q	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCTTCTCCTGAGACTCTAAT	0.448000										HNSCC(28;0.073)			19	31					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956460	16956460	+	RNA	SNP	A	A	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:16956460A>C	ENST00000412962.1	-	0	294																											tgcctgggcaattttttaaat	0.572000													3	25					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106158	9106158	+	Silent	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:9106158G>T	ENST00000383836.3	-	5	1021	c.594C>A	c.(592-594)ctC>ctA	p.L198L	SRGAP3_ENST00000360413.3_Silent_p.L198L|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	198					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGTTCATGCTGAGGTCTCCTG	0.567000			T	RAF1	pilocytic astrocytoma								38	50					1.30998e-17	1.39342e-17	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236746460	236746460	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:236746460C>G	ENST00000366582.3	-	18	2392	c.2278G>C	c.(2278-2280)Gac>Cac	p.D760H	HEATR1_ENST00000366581.2_Missense_Mutation_p.D760H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	760					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCCCTCTGTCTAACATCAGT	0.433000													181	9					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155429593	155429593	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:155429593G>A	ENST00000368346.3	-	4	5720	c.5081C>T	c.(5080-5082)tCa>tTa	p.S1694L	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1694L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1694	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGCCTGTTGAAGAAGTACT	0.423000													6	13					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697783	10697783	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr18:10697783C>T	ENST00000302079.6	-	41	6450	c.6451G>A	c.(6451-6453)Gaa>Aaa	p.E2151K	PIEZO2_ENST00000285141.4_Missense_Mutation_p.E6K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E108K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2151K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2176K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2151						integral to membrane	ion channel activity										ATTAAATGTTCTTGAAGCTTT	0.378000													50	50					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12639404	12639404	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:12639404C>G	ENST00000376223.2	-	3	759	c.376G>C	c.(376-378)Gtg>Ctg	p.V126L		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	126					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCATGGACCACGGCGGCATTG	0.592000													21	27					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824250	3824250	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr10:3824250C>G	ENST00000497571.1	-	2	519	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	KLF6_ENST00000542957.1_Missense_Mutation_p.E87Q|KLF6_ENST00000469435.1_Missense_Mutation_p.E87Q	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	87					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AGAGTGTCCTCTGGAGGACTG	0.473000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	104					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398622	89398622	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:89398622G>A	ENST00000439576.2	+	12	3180	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	ACAN_ENST00000352105.7_Missense_Mutation_p.E936K|ACAN_ENST00000559004.1_Missense_Mutation_p.E936K|ACAN_ENST00000561243.1_Missense_Mutation_p.E936K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	936					cell adhesion		hyaluronic acid binding|sugar binding			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)			TACGGTTGGTGAACTGCCCTC	0.562000													48	42					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383614	33383614	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr6:33383614C>T	ENST00000374512.3	+	14	1608	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	PHF1_ENST00000374516.3_Silent_p.F481F	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	0					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACATTGGTTTCCCCACAGACA	0.507000													64	74					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487095	125487095	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr9:125487095C>A	ENST00000259466.1	+	1	827	c.827C>A	c.(826-828)aCa>aAa	p.T276K		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CGGGTAGCCACAGTTATGTAC	0.458000													38	3					2.32173e-10	2.42331e-10	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39735575	39735575	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:39735575C>T	ENST00000413851.2	-	1	71	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L11fs*3(1)									CTGCGGCCATCAGCACCAGCA	0.642000													27	104					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402324	89402324	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr15:89402324G>C	ENST00000439576.2	+	12	6882	c.6508G>C	c.(6508-6510)Gaa>Caa	p.E2170Q	ACAN_ENST00000352105.7_Missense_Mutation_p.E2170Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2170Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E2170Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2170					cell adhesion		hyaluronic acid binding|sugar binding	p.E2056K(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)			AGTGAGTGGAGAATCCACCAC	0.582000													38	47					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833209	43833209	+	Missense_Mutation	SNP	C	C	T	rs150564154	byFrequency	TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr21:43833209C>T	ENST00000319294.6	+	4	462	c.431C>T	c.(430-432)aCg>aTg	p.T144M	UBASH3A_ENST00000291535.6_Missense_Mutation_p.T144M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.T144M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	144						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCCTTCCCCACGGCCGTGCCT	0.617000													57	48					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80724146	80724146	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:80724146C>G	ENST00000355528.4	+	4	467	c.337C>G	c.(337-339)Cga>Gga	p.R113G	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.R113G	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	113					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGATAGGTTCGAGGCTATAA	0.368000													9	8					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46313980	46313980	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:46313980C>G	ENST00000221538.3	-	2	911	c.769G>C	c.(769-771)Gac>Cac	p.D257H	RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D257H	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	257						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGCAGCGTGTCCAGCTTGGGG	0.622000													60	29					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652185	1652185	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:1652185C>T	ENST00000252804.4	-	17	3417	c.3367G>A	c.(3367-3369)Ggg>Agg	p.G1123R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1123					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGCCACCCCGAACAGCCCC	0.617000													32	0					0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52707874	52707874	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr13:52707874C>T	ENST00000400357.2	-	13	2629	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	NEK3_ENST00000452082.2_Missense_Mutation_p.V467I|NEK3_ENST00000378101.2_Missense_Mutation_p.V463I|NEK3_ENST00000339406.3_Missense_Mutation_p.V463I			P51956	NEK3_HUMAN	NIMA-related kinase 3	463					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCAAAATGACAGAATCGTGA	0.488000													5	0					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85687988	85687988	+	Silent	SNP	C	C	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:85687988C>T	ENST00000253458.7	+	4	707	c.531C>T	c.(529-531)ctC>ctT	p.L177L	GSE1_ENST00000405402.2_Silent_p.L73L|GSE1_ENST00000393243.1_Silent_p.L104L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		CGCACCTGCTCAGCACCCCCT	0.667000													31	19					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19314761	19314761	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:19314761C>G	ENST00000461366.1	+	1	255	c.40C>G	c.(40-42)Cgg>Ggg	p.R14G		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	14							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTTTGTCATCGGCTTGGCAA	0.642000													4	8					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11728910	11728910	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr2:11728910G>T	ENST00000381486.2	+	10	1498	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	GREB1_ENST00000234142.5_Missense_Mutation_p.D400Y|GREB1_ENST00000381483.2_Missense_Mutation_p.D400Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	400						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAACCTGAATGACGTCGTGGT	0.577000													59	2					1.00798e-23	1.09307e-23	1	1	0
CHERP	10523	broad.mit.edu	37	19	16633941	16633941	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr19:16633941G>C	ENST00000546361.2	-	11	2053	c.1902C>G	c.(1900-1902)atC>atG	p.I634M	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.I645M|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	634	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CATCGTGGTTGATGTGGGGTG	0.672000													41	52					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054166	160054166	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:160054166G>A	ENST00000368088.3	+	2	588	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	116					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCATCGAGACCGAGAC	0.677000													39	28					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283274	152283275	+	In_Frame_Ins	INS	-	-	GGA			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr1:152283274_152283275insGGA	ENST00000368799.1	-	3	4122_4123	c.4087_4088insTCC	c.(4087-4089)cag>cTCCag	p.1362_1363insL	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1362	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGCGG	0.545									Ichthyosis				8	928	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													7	214	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187554879	187554880	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr4:187554879_187554880insGA	ENST00000441802.2	-	7	4490_4491	c.4281_4282insTC	c.(4279-4284)ctcacafs	p.T1428fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1428	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTCGACTGTGAGGTTGTAGT	0.455										HNSCC(5;0.00058)			85	125	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													4	7	---	---	---	---					
SRPR	6734	broad.mit.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438													7	351	---	---	---	---					
VKORC1	79001	broad.mit.edu	37	16	31106727	31106728	+	Frame_Shift_Ins	INS	-	-	GTAA			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr16:31106727_31106728insGTAA	ENST00000498155.1	-	1	573_574	c.252_253insTTAC	c.(250-255)tacaacfs	p.N85fs				Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CAAGTCCTGTTGTAAGAATTGC	0.460													5	7	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65907303	65907304	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr17:65907303_65907304delTC	ENST00000321892.4	+	13	3742_3743	c.3681_3682delTC	c.(3679-3684)aatctcfs	p.L1228fs	BPTF_ENST00000306378.6_Frame_Shift_Del_p.L1102fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.L1228fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.L1089fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1228					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCAAAAAATCTCTCTGAATC	0.381													9	36	---	---	---	---					
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S5-AA26-01A-11D-A38G-08	TCGA-S5-AA26-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0edef79b-466e-4362-af00-3961ea0d904c	ae0ccd07-e2c8-42b5-b900-2ecfda4104d2	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cccttcfs	p.F263fs	BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.F77fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.F263fs			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	263						extracellular region	lipopolysaccharide binding|phospholipid binding										ACTGGTGAGAAGGGGGGGTCGG	0.460													28	38	---	---	---	---					
