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
ALMS1	7840	broad.mit.edu	37	2	73675894	73675894	+	Missense_Mutation	SNP	C	C	T	rs140940799		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:73675894C>T	ENST00000264448.6	+	8	2348	c.2237C>T	c.(2236-2238)cCt>cTt	p.P746L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P704L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P746L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	746	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.P746L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGCCACTCCTGGACCAGCT	0.443000													6	153					0	0	0.047766	0	0
RSBN1	54665	broad.mit.edu	37	1	114340452	114340452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:114340452G>A	ENST00000261441.5	-	2	973	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	304						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TCCTTATTAAGTCCTGAAGTG	0.423000													17	106					0	0	0.033300	0	0
LATS1	9113	broad.mit.edu	37	6	150005366	150005366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:150005366G>A	ENST00000543571.1	-	4	1406	c.859C>T	c.(859-861)Cga>Tga	p.R287*	LATS1_ENST00000392273.3_Nonsense_Mutation_p.R287*|LATS1_ENST00000253339.5_Nonsense_Mutation_p.R287*|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	287					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGAGAGATTCGGGAGATTACG	0.527000													7	120					0	0	0.029380	0	0
COG7	91949	broad.mit.edu	37	16	23464251	23464251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:23464251C>T	ENST00000307149.5	-	1	250	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CTD-2270L9.4_ENST00000570080.1_lincRNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	22					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGAGCCGGCCCTGAAGGCCGC	0.617000													6	61					0	0	0.021553	0	0
DCST1	149095	broad.mit.edu	37	1	155007182	155007182	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:155007182A>G	ENST00000295542.1	+	4	337	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	DCST1_ENST00000392480.1_Missense_Mutation_p.M81V|DCST1_ENST00000423025.2_Intron|DCST1_ENST00000368419.2_Missense_Mutation_p.M81V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	81						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAGAAGATTATGTTCTTGTA	0.537000													10	84					0	0	0.119110	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572328	186572328	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:186572328G>A	ENST00000412955.2	+	3	711	c.570G>A	c.(568-570)caG>caA	p.Q190Q	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.Q190Q|ADIPOQ_ENST00000444204.2_Silent_p.Q190Q			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	190	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		ATCAGTACCAGGAAAATAATG	0.512000													12	83					0	0	0.093190	0	0
UGDH	7358	broad.mit.edu	37	4	39507238	39507238	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:39507238C>T	ENST00000316423.6	-	8	1379	c.1037_splice	c.e8+1	p.R346_splice	UGDH_ENST00000507089.1_Splice_Site_p.R249_splice|UGDH_ENST00000506179.1_Splice_Site_p.R346_splice|UGDH_ENST00000501493.2_Splice_Site_p.R279_splice	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	346					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AAACTGATACCTTGTATCACC	0.318000													25	148					0	0	0.144211	0	0
FAM46C	54855	broad.mit.edu	37	1	118166042	118166042	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:118166042C>T	ENST00000369448.3	+	2	799	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	184										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGGACTCTTTCCAAATCATCC	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			15	129					0	0	0.146539	0	0
CIDEA	1149	broad.mit.edu	37	18	12264450	12264450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:12264450C>T	ENST00000320477.9	+	3	393	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	110	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGTGGATGCCGGTAAGCAA	0.463000													4	29					0	0	0.014758	0	0
DEF8	54849	broad.mit.edu	37	16	90023927	90023927	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:90023927C>T	ENST00000563594.1	+	5	1228	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DEF8_ENST00000567874.1_Silent_p.F17F|DEF8_ENST00000418391.2_Silent_p.F77F|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000268676.7_Silent_p.F138F|DEF8_ENST00000569453.1_Silent_p.F77F|DEF8_ENST00000563795.1_Silent_p.F77F	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	138					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGGGTCTGTTCCTGGCCTCTG	0.657000													4	11					0	0	0.014758	0	0
CD93	22918	broad.mit.edu	37	20	23066584	23066584	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:23066584C>T	ENST00000246006.4	-	1	393	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	82	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)					GGGCTGCCTCCCGCCTCAGGA	0.637000													5	12					0	0	0.021553	0	0
F13B	2165	broad.mit.edu	37	1	197019883	197019883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:197019883C>T	ENST00000367412.1	-	10	1725	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	561	Sushi 9.				blood coagulation	extracellular region		p.G561V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTCCCTAGATCCTTCTAGGAA	0.353000													8	42					0	0	0.058154	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6932064	6932064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrY:6932064G>A	ENST00000383032.1	+	8	978	c.331G>A	c.(331-333)Gca>Aca	p.A111T	TBL1Y_ENST00000346432.3_Missense_Mutation_p.A111T|TBL1Y_ENST00000355162.2_Missense_Mutation_p.A111T	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	111					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AGCCAGTGCAGCAGCCACAGA	0.547000													3	25					0	0	0.115264	0	0
PHF21B	112885	broad.mit.edu	37	22	45278978	45278978	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:45278978C>T	ENST00000313237.5	-	13	1734	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	PHF21B_ENST00000403565.1_Silent_p.Q324Q|PHF21B_ENST00000396103.3_Silent_p.Q486Q|PHF21B_ENST00000404079.2_Silent_p.Q474Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	528							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGTTGTGGCCCTGGGGGTGCT	0.617000													19	173					0	0	0.069288	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711304	155711304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:155711304C>T	ENST00000295101.2	+	3	1462	c.985C>T	c.(985-987)Cct>Tct	p.P329S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	329					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGTTTTTTTCCTGTAATTTC	0.388000													4	52					0	0	0.009096	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476016	27476016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:27476016G>A	ENST00000356183.4	-	34	5512	c.5497C>T	c.(5497-5499)Cag>Tag	p.Q1833*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1833*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1833						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCTGGCCTGGGGGTCTTCT	0.682000													3	44					0	0	0.115264	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													10	61					0	0	0.080935	0	0
WDR62	284403	broad.mit.edu	37	19	36594428	36594428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:36594428C>T	ENST00000401500.2	+	30	3733	c.3698C>T	c.(3697-3699)tCc>tTc	p.S1233F	WDR62_ENST00000270301.7_Missense_Mutation_p.S1228F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1228					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCAGCATCTCCCTCGGTGAC	0.667000													8	67					0	0	0.038147	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034661	16034661	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:16034661G>A	ENST00000326742.7	-	6	880	c.879C>T	c.(877-879)tcC>tcT	p.S293S	CYP4F11_ENST00000248041.7_Silent_p.S293S|CYP4F11_ENST00000402119.3_Silent_p.S293S			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	293					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTAAAGTCTTGGACTTTGCCT	0.493000													18	143					0	0	0.062417	0	0
DSTYK	25778	broad.mit.edu	37	1	205130488	205130488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:205130488C>T	ENST00000367162.3	-	7	1876	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	DSTYK_ENST00000367161.3_Missense_Mutation_p.E616K|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	616						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCCGTTTTCTCTAACCGGCCT	0.498000													7	60					0	0	0.038147	0	0
LIG1	3978	broad.mit.edu	37	19	48640919	48640919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:48640919C>T	ENST00000263274.7	-	13	1533	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	LIG1_ENST00000536218.1_Missense_Mutation_p.E304K|LIG1_ENST00000427526.2_Missense_Mutation_p.E341K	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	372					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCGGCTGCCTCAGCCCGGACG	0.687000								Nucleotide excision repair (NER)					4	35					0	0	0.009096	0	0
KIAA0922	23240	broad.mit.edu	37	4	154533475	154533475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:154533475C>T	ENST00000409663.3	+	26	3539	c.3487C>T	c.(3487-3489)Cct>Tct	p.P1163S	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P1164S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1080S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1163						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACACAAAGCCTTCTTCAGA	0.338000													7	42					0	0	0.029380	0	0
HTR3B	9177	broad.mit.edu	37	11	113816831	113816831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:113816831C>T	ENST00000260191.2	+	9	1555	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	HTR3B_ENST00000537778.1_Missense_Mutation_p.S422F	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	433					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACTCTGTGCTCCCTCTGGGCA	0.532000													13	104					0	0	0.119110	0	0
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:12699056G>A	ENST00000262127.2	-	4	667	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373000													13	56					0	0	0.119110	0	0
C6orf10	10665	broad.mit.edu	37	6	32261273	32261273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32261273C>T	ENST00000375015.4	-	26	1374	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	C6orf10_ENST00000533191.1_Missense_Mutation_p.G391R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G391R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G377R|C6orf10_ENST00000447241.2_Missense_Mutation_p.G393R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G384R			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	393						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCCTTTGAGACA	0.488000													14	151					0	0	0.038395	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036946	48036946	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:48036946G>A	ENST00000295461.5	+	5	576	c.510G>A	c.(508-510)ggG>ggA	p.G170G	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	170						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACATTCATGGGAAAATAGGCT	0.353000													6	63					0	0	0.029380	0	0
GRID1	2894	broad.mit.edu	37	10	87482861	87482861	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:87482861G>A	ENST00000327946.7	-	12	1981	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	GRID1_ENST00000536331.1_Silent_p.I203I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	632						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCCCATCACGATGCGCATGG	0.582000										Multiple Myeloma(13;0.14)			5	33					0	0	0.014758	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939188	52939188	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:52939188C>A	ENST00000394752.3	-	21	2947	c.2565G>T	c.(2563-2565)agG>agT	p.R855S	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R855S|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R855S|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R812S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	855	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CAAACTTGATCCTCTCTATGT	0.458000													4	89					0.014758	0.0150112	0.014758	1	0
CSMD2	114784	broad.mit.edu	37	1	34401498	34401498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:34401498C>T	ENST00000373381.4	-	4	751	c.575G>A	c.(574-576)gGt>gAt	p.G192D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	152	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGGTTGAACCCTGCTGGAT	0.602000													20	103					0	0	0.062417	0	0
BTNL2	56244	broad.mit.edu	37	6	32362548	32362548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32362548C>T	ENST00000454136.3	-	6	1337	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	BTNL2_ENST00000374993.1_Missense_Mutation_p.E445K|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000414363.1_Missense_Mutation_p.E235K|BTNL2_ENST00000540315.1_Missense_Mutation_p.E235K|BTNL2_ENST00000544175.1_Missense_Mutation_p.E168K|BTNL2_ENST00000374995.3_Missense_Mutation_p.E351K			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	445						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCGATTTTCTCCTCGCCCAAA	0.458000													6	70					0	0	0.029380	0	0
MYOM3	127294	broad.mit.edu	37	1	24413146	24413146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:24413146G>A	ENST00000330966.7	-	15	1951	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	MYOM3_ENST00000329601.7_Missense_Mutation_p.R596W|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.R596W|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	596										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCGGGCCCCGCAAGGCGATG	0.632000													3	49					0	0	0.009096	0	0
FGFR2	2263	broad.mit.edu	37	10	123310941	123310941	+	Missense_Mutation	SNP	C	C	T	rs67257519		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:123310941C>T	ENST00000358487.5	-	5	759	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FGFR2_ENST00000351936.6_Missense_Mutation_p.E163K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E163K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E48K|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.E163K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E48K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E163K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E163K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E74K|FGFR2_ENST00000359354.2_Missense_Mutation_p.E163K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E163K|FGFR2_ENST00000357555.5_Missense_Mutation_p.E74K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	163	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCGCTTTTCCATCTTTTCT	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				12	54					0	0	0.080935	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454684	114454684	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:114454684C>T	ENST00000369563.3	+	4	1916	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	490					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		GCAAGGGCACCCCTCTTCTAG	0.527000								Other identified genes with known or suspected DNA repair function					11	111					0	0	0.080935	0	0
KIF27	55582	broad.mit.edu	37	9	86474171	86474171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:86474171G>A	ENST00000297814.2	-	14	3193	c.3050C>T	c.(3049-3051)tCa>tTa	p.S1017L	RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.S951L|KIF27_ENST00000334204.2_Missense_Mutation_p.S920L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1017					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AACTTGTTCTGAAATCTTTGT	0.398000													18	103					0	0	0.043863	0	0
DENND4A	10260	broad.mit.edu	37	15	66034088	66034088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:66034088G>A	ENST00000443035.3	-	5	811	c.596C>T	c.(595-597)tCg>tTg	p.S199L	DENND4A_ENST00000431932.2_Missense_Mutation_p.S199L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	199	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTGCCACCGATTTTTTATA	0.308000													15	76					0	0	0.069288	0	0
C6orf118	168090	broad.mit.edu	37	6	165713883	165713883	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:165713883C>T	ENST00000543069.1	-	3	1115	c.534G>A	c.(532-534)ttG>ttA	p.L178L	C6orf118_ENST00000230301.8_Silent_p.L282L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	282										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACCAAATATCAAAGAACTGT	0.403000													11	114					0	0	0.080935	0	0
EDC3	80153	broad.mit.edu	37	15	74963798	74963798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:74963798G>A	ENST00000315127.4	-	3	663	c.482C>T	c.(481-483)tCc>tTc	p.S161F	EDC3_ENST00000568176.1_Missense_Mutation_p.S161F|EDC3_ENST00000426797.3_Missense_Mutation_p.S161F	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	161					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTACTTACAGGAGTTGTGCCG	0.458000													13	78					0	0	0.146539	0	0
HECTD3	79654	broad.mit.edu	37	1	45475073	45475073	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:45475073G>A	ENST00000372172.4	-	6	1028	c.957C>T	c.(955-957)aaC>aaT	p.N319N		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	319	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCTTCTTCAGGTTGTCCCCTT	0.542000													34	249					0	0	0.092188	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239964	5239964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:5239964G>A	ENST00000274181.7	+	16	2587	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	817	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D817N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTACTTTCGACTACAGACG	0.517000													15	110					0	0	0.119110	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671598	84671598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:84671598C>T	ENST00000284136.6	-	8	908	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	289	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTCCTACATCATTCTGACAT	0.373000													19	178					0	0	0.038395	0	0
GFRA3	2676	broad.mit.edu	37	5	137600086	137600086	+	Silent	SNP	C	C	T	rs143061950	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:137600086C>T	ENST00000274721.3	-	2	489	c.243G>A	c.(241-243)tcG>tcA	p.S81S	GFRA3_ENST00000378362.3_Silent_p.S81S	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	81					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGACCGAAGGCTCCT	0.607000													8	53					0	0	0.038147	0	0
ANKRD29	147463	broad.mit.edu	37	18	21181252	21181252	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:21181252G>A	ENST00000592179.1	-	10	998	c.844C>T	c.(844-846)Cta>Tta	p.L282L	ANKRD29_ENST00000322980.9_Silent_p.L249L|ANKRD29_ENST00000284207.7_Silent_p.L249L	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	282										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTTTGGTTAGTTCTGCCGGA	0.433000													8	51					0	0	0.047766	0	0
NRP1	8829	broad.mit.edu	37	10	33469205	33469205	+	Silent	SNP	G	G	A	rs144845322		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:33469205G>A	ENST00000265371.4	-	18	3096	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	NRP1_ENST00000395995.1_Silent_p.I840I|NRP1_ENST00000374867.2_Silent_p.I857I			O14786	NRP1_HUMAN	neuropilin 1	857					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGTGATGAGGATGGGGTCTA	0.532000													14	125					0	0	0.099896	0	0
DNAH10	196385	broad.mit.edu	37	12	124332625	124332625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:124332625G>A	ENST00000409039.3	+	32	5603	c.5578G>A	c.(5578-5580)Gaa>Aaa	p.E1860K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1860	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACTGTGGCGAAGGCATGGA	0.572000													24	89					0	0	0.116897	0	0
CD33	945	broad.mit.edu	37	19	51728677	51728677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:51728677G>A	ENST00000262262.4	+	2	262	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.E81K	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	81	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCTAGATCAAGAAGTACAGGA	0.537000													14	92					0	0	0.119110	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603494	13603494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:13603494G>A	ENST00000040738.5	-	10	5165	c.5030C>T	c.(5029-5031)aCt>aTt	p.T1677I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1677							DNA binding										AAAAGTAATAGTTCCTTCAAC	0.413000													7	230					0	0	0.047766	0	0
LRRN1	57633	broad.mit.edu	37	3	3886713	3886713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:3886713C>T	ENST00000319331.3	+	2	1149	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	130						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAGGAAAATCAGATTACCGA	0.423000													5	66					0	0	0.014758	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640068	9640068	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:9640068C>G	ENST00000302692.6	+	6	749	c.539C>G	c.(538-540)aCc>aGc	p.T180S		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	180					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		GTTTACCAGACCGAAGGCATT	0.413000													6	33					0	0	0.021553	0	0
SCN10A	6336	broad.mit.edu	37	3	38783809	38783809	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:38783809G>A	ENST00000449082.2	-	13	2078	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	693					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCATGGCTTCGAAGGTAGGGC	0.592000													5	59					0	0	0.014758	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257771	208257771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:208257771G>A	ENST00000367033.3	-	10	3009	c.2252C>T	c.(2251-2253)cCc>cTc	p.P751L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	751					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGCAGAGCGGGGACCCGGTG	0.602000													12	85					0	0	0.105934	0	0
VSIG2	23584	broad.mit.edu	37	11	124618311	124618311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:124618311C>T	ENST00000403470.1	-	6	881	c.826G>A	c.(826-828)Gag>Aag	p.E276K	VSIG2_ENST00000326621.5_Missense_Mutation_p.E276K			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	276						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCATATGTCTCCTTGGGCTTC	0.612000													20	116					0	0	0.099896	0	0
IKBKB	3551	broad.mit.edu	37	8	42147786	42147786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:42147786C>T	ENST00000520810.1	+	4	499	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000519735.1_Missense_Mutation_p.R105W|IKBKB_ENST00000520835.1_Missense_Mutation_p.R103W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R46W	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	105	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGAGATCTCCGGAAGGTGAG	0.612000													3	19					0	0	0.009096	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683354	140683354	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140683354C>A	ENST00000239451.4	-	1	258	c.79G>T	c.(79-81)Ggg>Tgg	p.G27W		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	27					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGGGCTGCCCAGTCAGTACA	0.592000													6	72					0.00448238	0.00458174	0.047766	1	0
VPREB1	7441	broad.mit.edu	37	22	22599458	22599458	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:22599458C>T	ENST00000403807.3	+	2	286	c.147C>T	c.(145-147)atC>atT	p.I49I	VPREB1_ENST00000302273.2_Silent_p.I48I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	49	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGACATCGGTGTGTACA	0.617000													19	109					0	0	0.069288	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669516	131669516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:131669516G>A	ENST00000259324.5	+	3	596	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D25N|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D25N	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	25					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCCGTGGTGGGATGTGTTCAC	0.542000													7	53					0	0	0.038147	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589497	55589497	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:55589497G>A	ENST00000201647.6	+	3	114		c.e3+1		EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_Splice_Site	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1							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)		TCTATCTATGGTGAGCGGGGG	0.587000													9	40					0	0	0.069234	0	0
GPR98	84059	broad.mit.edu	37	5	89970018	89970018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:89970018G>A	ENST00000405460.2	+	23	5173	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1693					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAACGACTGATATCACCAT	0.428000													3	19					0	0	0.009096	0	0
EXOC7	23265	broad.mit.edu	37	17	74099765	74099765	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:74099765G>A	ENST00000607838.1	-	1	103	c.9C>T	c.(7-9)ccC>ccT	p.P3P	EXOC7_ENST00000589210.1_Silent_p.P3P|EXOC7_ENST00000335146.7_Silent_p.P3P|EXOC7_ENST00000411744.2_Silent_p.P3P|EXOC7_ENST00000406660.3_Silent_p.P3P|EXOC7_ENST00000332065.5_Silent_p.P3P|EXOC7_ENST00000405575.4_Silent_p.P3P	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	3					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTCCTGTGGGGGAATCATCG	0.682000													5	17					0	0	0.021553	0	0
SIK3	23387	broad.mit.edu	37	11	116729110	116729110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:116729110C>T	ENST00000375300.1	-	20	2932	c.2927G>A	c.(2926-2928)cGg>cAg	p.R976Q	SIK3_ENST00000542607.1_Missense_Mutation_p.R858Q|SIK3_ENST00000446921.2_Missense_Mutation_p.R916Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R757Q|SIK3_ENST00000292055.4_Missense_Mutation_p.R918Q|SIK3_ENST00000375288.1_Missense_Mutation_p.R253Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	918						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGCGAATGCCGGGGAGAAAG	0.597000													8	85					0	0	0.047766	0	0
SMC1B	27127	broad.mit.edu	37	22	45798252	45798252	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:45798252A>C	ENST00000357450.4	-	5	814	c.815T>G	c.(814-816)aTg>aGg	p.M272R	SMC1B_ENST00000404354.3_Missense_Mutation_p.M272R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	272					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTAGTTAGCATTCCATGTTC	0.328000													5	65					0	0	0.014758	0	0
ADAD2	161931	broad.mit.edu	37	16	84229942	84229942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:84229942G>A	ENST00000268624.3	+	9	1831	c.1738G>A	c.(1738-1740)Gtt>Att	p.V580I	RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V498I|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	498	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGCATCGAGGTTGTGGATGT	0.677000													5	48					0	0	0.029380	0	0
DLC1	10395	broad.mit.edu	37	8	12943340	12943340	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:12943340T>C	ENST00000276297.4	-	18	4976	c.4567A>G	c.(4567-4569)Aaa>Gaa	p.K1523E	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.K1120E|DLC1_ENST00000520226.1_Missense_Mutation_p.K1012E|DLC1_ENST00000358919.2_Missense_Mutation_p.K1086E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1523					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGTGTCTTTGGTTTCAGTG	0.453000													17	95					0	0	0.043863	0	0
SEC24A	10802	broad.mit.edu	37	5	133996932	133996932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:133996932C>T	ENST00000398844.2	+	2	509	c.221C>T	c.(220-222)tCt>tTt	p.S74F	SEC24A_ENST00000322887.4_Missense_Mutation_p.S74F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	74					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGACAGTCTAACTATGGT	0.493000													23	173					0	0	0.076483	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998437	46998437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:46998437G>A	ENST00000599531.1	-	1	1318	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.R183Q|PNMAL2_ENST00000377655.2_Missense_Mutation_p.R96C	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	96										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTGCGCACGGTCCTTCCAC	0.677000													25	174					0	0	0.091800	0	0
FAM83H	286077	broad.mit.edu	37	8	144808446	144808446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:144808446G>A	ENST00000388913.3	-	5	3310	c.3185C>T	c.(3184-3186)cCc>cTc	p.P1062L		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1062					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTCGGGCCGGGGCTCGGGGC	0.647000													7	15					0	0	0.047766	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480653	140480653	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140480653G>A	ENST00000231130.2	+	1	420	c.420G>A	c.(418-420)ctG>ctA	p.L140L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGCATCTGAAAATCCTAG	0.403000													16	129					0	0	0.043863	0	0
NFATC3	4775	broad.mit.edu	37	16	68225518	68225518	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:68225518C>T	ENST00000349223.5	+	9	3170	c.2946C>T	c.(2944-2946)ggC>ggT	p.G982G	NFATC3_ENST00000329524.4_Silent_p.G982G|NFATC3_ENST00000575270.1_Silent_p.G982G|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.G982G	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	982					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAAGTACGGGCCAGGGGGGTC	0.502000													12	198					0	0	0.105934	0	0
USH2A	7399	broad.mit.edu	37	1	215847907	215847907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:215847907G>A	ENST00000366943.2	-	63	13732	c.13346C>T	c.(13345-13347)tCt>tTt	p.S4449F	USH2A_ENST00000307340.3_Missense_Mutation_p.S4449F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4449	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATGTTGGAGAGTCCATGTT	0.473000										HNSCC(13;0.011)			7	56					0	0	0.038147	0	0
UQCC1	55245	broad.mit.edu	37	20	33961986	33961986	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:33961986C>T	ENST00000397554.1	-	5	417		c.e5+1		UQCC_ENST00000491125.1_Splice_Site|UQCC_ENST00000542501.1_Intron|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Splice_Site|UQCC_ENST00000374385.5_Splice_Site|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Splice_Site|UQCC_ENST00000374384.2_Splice_Site|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000349714.5_Intron			Q9NVA1	UQCC_HUMAN								cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAATAACTTACTTAGAAAGAA	0.343000													4	84					0	0	0.009096	0	0
SORCS3	22986	broad.mit.edu	37	10	106849577	106849577	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:106849577A>C	ENST00000369701.3	+	6	1300	c.1073A>C	c.(1072-1074)gAg>gCg	p.E358A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCACATGGAGGTGCGGACC	0.557000													10	47					0	0	0.119110	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647683	92647683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:92647683G>A	ENST00000318445.6	+	4	1134	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R307K|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	307					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCTCCGAAAGAGAATACGAG	0.587000													5	37					0	0	0.014758	0	0
ALMS1	7840	broad.mit.edu	37	2	73675893	73675893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:73675893C>T	ENST00000264448.6	+	8	2347	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P704S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P746S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	746	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCAGCCACTCCTGGACCAGC	0.438000													6	153					0	0	0.047766	0	0
LATS2	26524	broad.mit.edu	37	13	21562053	21562053	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:21562053G>A	ENST00000382592.4	-	4	2271	c.1866C>T	c.(1864-1866)aaC>aaT	p.N622N	LATS2_ENST00000542899.1_Silent_p.N622N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	622					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCAGCCTCCGGTTAACCTTCT	0.478000													24	128					0	0	0.099896	0	0
MUT	4594	broad.mit.edu	37	6	49399535	49399535	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:49399535T>C	ENST00000274813.3	-	13	2286	c.2159A>G	c.(2158-2160)aAt>aGt	p.N720S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	720	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAAATACATTGGAAACACC	0.363000													4	238					0	0	0.029380	0	0
UBA3	9039	broad.mit.edu	37	3	69127023	69127023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:69127023G>A	ENST00000361055.4	-	3	163	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	UBA3_ENST00000415609.2_Missense_Mutation_p.R23C|UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000349511.4_Missense_Mutation_p.R23C	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	37					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TGGTTCCAGCGACCTTCCCAG	0.458000													39	195					0	0	0.131918	0	0
ALAS2	212	broad.mit.edu	37	X	55051223	55051223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:55051223G>A	ENST00000330807.5	-	3	369	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	ALAS2_ENST00000335854.4_Nonsense_Mutation_p.Q78*|ALAS2_ENST00000396198.3_Nonsense_Mutation_p.Q102*	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	78					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TTCCCATCCTGGAGTTCCGAC	0.488000													10	51					0	0	0.080935	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000													21	246					0	0	0.083992	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682940	53682940	+	Missense_Mutation	SNP	C	C	T	rs142349647	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:53682940C>T	ENST00000262135.4	-	16	2333	c.2240G>A	c.(2239-2241)cGa>cAa	p.R747Q	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R747Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R747Q|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R747Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	747					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGCCCTTTCTCGATAAAGTCG	0.408000													13	138					0	0	0.132662	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43924387	43924387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:43924387G>A	ENST00000282406.4	+	7	690	c.580G>A	c.(580-582)Ggg>Agg	p.G194R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	194						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTGACCTTTGGGTGCTTTTT	0.418000													6	86					0	0	0.029380	0	0
KCNH4	23415	broad.mit.edu	37	17	40328133	40328133	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:40328133G>A	ENST00000264661.3	-	5	1100	c.768C>T	c.(766-768)acC>acT	p.T256T	KCNH4_ENST00000607371.1_Silent_p.T256T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	256					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGTGATGGGGGTGTCATCGT	0.592000													22	130					0	0	0.076483	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121970	90121970	+	RNA	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:90121970G>A	ENST00000483379.1	+	0	369																											CAGAAACCAGGGAAAGTCCCT	0.512000													10	126					0	0	0.069234	0	0
RFX7	64864	broad.mit.edu	37	15	56390316	56390316	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:56390316A>G	ENST00000423270.1	-	8	1069	c.1070T>C	c.(1069-1071)aTt>aCt	p.I357T	RFX7_ENST00000317318.6_Missense_Mutation_p.I357T|RFX7_ENST00000422057.1_Missense_Mutation_p.I260T|RFX7_ENST00000559447.2_Missense_Mutation_p.I260T	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	260					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AACGATACCAATAGGTTGAGG	0.398000													3	53					0	0	0.115264	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814757	54814757	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:54814757C>T	ENST00000585477.1	+	1	465	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		TTACCAAAACCTGAGCCAGAA	0.542000													3	19					0	0	0.115264	0	0
CENPF	1063	broad.mit.edu	37	1	214815371	214815371	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:214815371G>A	ENST00000366955.3	+	12	3858	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1306					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGAGAAGGAGAAGGAGTGCC	0.368000													7	49					0	0	0.047766	0	0
DNAH8	1769	broad.mit.edu	37	6	38980272	38980272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:38980272C>T	ENST00000359357.3	+	89	13176	c.12922C>T	c.(12922-12924)Ctc>Ttc	p.L4308F	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4272F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATACCTCAGCTCTGGAAAAG	0.408000													18	77					0	0	0.049695	0	0
NPHP1	4867	broad.mit.edu	37	2	110936067	110936067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:110936067G>A	ENST00000316534.4	-	4	335	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	NPHP1_ENST00000393272.3_Missense_Mutation_p.L88F|NPHP1_ENST00000418527.1_Missense_Mutation_p.L88F|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Missense_Mutation_p.L88F|NPHP1_ENST00000445609.2_Missense_Mutation_p.L88F			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	88					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGTCCAAAAGAGTATGCTCC	0.358000													6	62					0	0	0.029380	0	0
PRDM15	63977	broad.mit.edu	37	21	43291606	43291606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr21:43291606G>A	ENST00000269844.3	-	4	648	c.538C>T	c.(538-540)Cct>Tct	p.P180S	PRDM15_ENST00000538201.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCCCACCAGGAGGTAGGGCA	0.582000													8	82					0	0	0.047766	0	0
RP1	6101	broad.mit.edu	37	8	55538745	55538745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:55538745C>T	ENST00000220676.1	+	4	2451	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	768					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S768F(1)|p.S768C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCAAAATTCCAAGGTTCAA	0.289000													5	24					0	0	0.029380	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067810	60067810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:60067810G>A	ENST00000505959.1	-	6	662	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	ELOVL7_ENST00000508821.1_Missense_Mutation_p.R59C|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R59C|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R59C			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	59					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGGGCTTGCGATTTTCCATG	0.413000													4	39					0	0	0.009096	0	0
EXOC7	23265	broad.mit.edu	37	17	74099764	74099764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:74099764G>A	ENST00000607838.1	-	1	104	c.10C>T	c.(10-12)Cca>Tca	p.P4S	EXOC7_ENST00000589210.1_Missense_Mutation_p.P4S|EXOC7_ENST00000335146.7_Missense_Mutation_p.P4S|EXOC7_ENST00000411744.2_Missense_Mutation_p.P4S|EXOC7_ENST00000406660.3_Missense_Mutation_p.P4S|EXOC7_ENST00000332065.5_Missense_Mutation_p.P4S|EXOC7_ENST00000405575.4_Missense_Mutation_p.P4S	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	4					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCCTCCTGTGGGGGAATCATC	0.682000													5	19					0	0	0.021553	0	0
SLC18A1	6570	broad.mit.edu	37	8	20005148	20005148	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:20005148G>A	ENST00000440926.1	-	15	1766	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC18A1_ENST00000381608.4_Silent_p.I432I|SLC18A1_ENST00000519026.1_Silent_p.I400I|SLC18A1_ENST00000265808.7_Silent_p.I400I|SLC18A1_ENST00000276373.5_Silent_p.I432I|SLC18A1_ENST00000437980.1_Silent_p.I432I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	432					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CCACATCAGCGATGGCGTAGA	0.547000													3	41					0	0	0.115264	0	0
GYPC	2995	broad.mit.edu	37	2	127453655	127453655	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:127453655C>T	ENST00000259254.4	+	4	655	c.324C>T	c.(322-324)gcC>gcT	p.A108A	GYPC_ENST00000409836.3_Silent_p.A89A|GYPC_ENST00000356887.7_Silent_p.A87A|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	108						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGATGCAGCCCTGCAGGGAG	0.562000													7	60					0	0	0.029380	0	0
RHAG	6005	broad.mit.edu	37	6	49604464	49604464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:49604464C>T	ENST00000371175.4	-	1	88	c.62G>A	c.(61-63)gGa>gAa	p.G21E	RHAG_ENST00000229810.7_Missense_Mutation_p.G21E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	21					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AACAAATAATCCAAATAAAAC	0.438000													18	132					0	0	0.049695	0	0
ARID2	196528	broad.mit.edu	37	12	46231200	46231200	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46231200G>C	ENST00000334344.6	+	9	1292	c.1120_splice	c.e9+1	p.G374_splice	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Splice_Site_p.G225_splice|ARID2_ENST00000444670.1_Splice_Site_p.G3_splice	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	374					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGATGAGAGGTGAGTTTTC	0.308000			"""N, S, F"""		hepatocellular carcinoma								8	57					0	0	0.038147	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733194	2733194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:2733194G>A	ENST00000269740.4	-	3	829	c.500C>T	c.(499-501)cCc>cTc	p.P167L	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.P167L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	167						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCGCACGGGGCTGGCGCG	0.741000													8	28					0	0	0.038147	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552480	140552480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140552480G>A	ENST00000231137.3	+	1	238	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTATTTCTGGGAATGTCTTG	0.483000													9	95					0	0	0.080935	0	0
CSMD2	114784	broad.mit.edu	37	1	34102012	34102012	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:34102012G>A	ENST00000373381.4	-	30	5093	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CSMD2_ENST00000373380.1_Silent_p.I512I|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1599	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGCCCCAGGATGCAGCTCA	0.652000													5	24					0	0	0.014758	0	0
SERPINA3	12	broad.mit.edu	37	14	95088720	95088720	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:95088720G>A	ENST00000553947.1	+	7	1923	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000467132.1_Silent_p.R320R|SERPINA3_ENST00000482740.1_Silent_p.R102R|SERPINA3_ENST00000393078.3_Silent_p.R320R|SERPINA3_ENST00000393080.4_Silent_p.R320R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	320					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCATCTCGAGGGACTATAACC	0.498000													14	73					0	0	0.132662	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416519	58416519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:58416519G>A	ENST00000371015.1	+	11	1983	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PHACTR3_ENST00000395639.4_Missense_Mutation_p.E395K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E395K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E503K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E465K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E465K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E465K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	506	Required for PP1CA binding and inhibition of PP1 activity.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGATTACGTGGAAGTAGCAAA	0.438000													13	46					0	0	0.132662	0	0
SETDB2	83852	broad.mit.edu	37	13	50055134	50055134	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:50055134C>T	ENST00000354234.4	+	8	1944	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	SETDB2_ENST00000317257.8_Silent_p.N358N|SETDB2_ENST00000258672.5_Silent_p.N346N	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	358	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGTCAAAACCGAGTTGTCC	0.413000													10	104					0	0	0.093190	0	0
USP20	10868	broad.mit.edu	37	9	132630713	132630713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:132630713C>T	ENST00000315480.4	+	11	1278	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	USP20_ENST00000372429.3_Missense_Mutation_p.P374S|USP20_ENST00000358355.1_Missense_Mutation_p.P374S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	374					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GTCCTCCAGCCCCTGCCGGAC	0.692000													5	30					0	0	0.014758	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239686	160239686	+	Splice_Site	SNP	C	C	T	rs142457687	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:160239686C>T	ENST00000275275.5	+	16	1395	c.1224_splice	c.e16+1	p.I408_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.I419_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	408						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCCAAAGATCGTGAGTAGAT	0.582000													4	50					0	0	0.009096	0	0
CCNB3	85417	broad.mit.edu	37	X	50052937	50052937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:50052937G>A	ENST00000376042.1	+	6	2066	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	CCNB3_ENST00000276014.7_Missense_Mutation_p.E590K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	590					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCTTTACAGGAAAAGAAAAT	0.413000													3	9					0	0	0.115264	0	0
PROKR1	10887	broad.mit.edu	37	2	68882300	68882300	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:68882300G>A	ENST00000303786.3	+	3	1194	c.774G>A	c.(772-774)gaG>gaA	p.E258E	PROKR1_ENST00000394342.2_Silent_p.E258E			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	258						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCCGGGAGCTCTGGTTCA	0.577000													4	43					0	0	0.014758	0	0
SYT15	83849	broad.mit.edu	37	10	46960014	46960014	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:46960014C>T	ENST00000374325.3	-	8	1280	c.1128G>A	c.(1126-1128)caG>caA	p.Q376Q	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000449358.2_5'UTR|SYT15_ENST00000503753.1_Silent_p.Q376Q	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	0	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGTAGTAGCCTGCTCTATAA	0.453000													4	39					0	0	0.009096	0	0
MTMR3	8897	broad.mit.edu	37	22	30403950	30403950	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:30403950T>G	ENST00000333027.3	+	11	1266	c.938T>G	c.(937-939)tTg>tGg	p.L313W	MTMR3_ENST00000351488.3_Missense_Mutation_p.L313W|MTMR3_ENST00000323630.5_Missense_Mutation_p.L177W|MTMR3_ENST00000406629.1_Missense_Mutation_p.L313W|MTMR3_ENST00000401950.2_Missense_Mutation_p.L313W	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	313	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGAAGCTTTTGATCTTGGAT	0.517000													5	37					0	0	0.021553	0	0
C1orf65	164127	broad.mit.edu	37	1	223568659	223568659	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:223568659C>T	ENST00000366875.3	+	1	1945	c.1842C>T	c.(1840-1842)ctC>ctT	p.L614L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	614										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGCTCCGTGCCTGTC	0.552000													3	25					0	0	0.014758	0	0
VARS	7407	broad.mit.edu	37	6	31760888	31760888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:31760888C>T	ENST00000375663.3	-	3	837	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	133	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCCAGGGCCCCCAGCACAGCC	0.662000													5	38					0	0	0.029380	0	0
NTF3	4908	broad.mit.edu	37	12	5603796	5603796	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:5603796A>G	ENST00000423158.3	+	2	667	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.Y139C	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGAAACGGTACGCGGAGCAT	0.602000													21	102					0	0	0.083992	0	0
RELN	5649	broad.mit.edu	37	7	103141356	103141356	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:103141356T>C	ENST00000424685.2	-	53	8662	c.8503A>G	c.(8503-8505)Agg>Ggg	p.R2835G	RELN_ENST00000428762.1_Missense_Mutation_p.R2835G|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2835G			P78509	RELN_HUMAN	reelin	2835					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGATAGAACCTAAACCTTACC	0.433000													17	129					0	0	0.043863	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188248	72188248	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:72188248G>A	ENST00000537465.1	-	4	434	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Silent_p.V92V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	92										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTGTTGAAGGACCAGCAATT	0.468000													12	109					0	0	0.119110	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225417	149225417	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:149225417T>A	ENST00000309241.5	+	11	2943	c.2911T>A	c.(2911-2913)Tcc>Acc	p.S971T	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S907T|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S971T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S932T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	971	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAACGAGCCCTCCTTCCAGCT	0.597000													5	64					0	0	0.014758	0	0
OTC	5009	broad.mit.edu	37	X	38271195	38271195	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:38271195T>A	ENST00000039007.4	+	9	1100	c.948T>A	c.(946-948)ttT>ttA	p.F316L	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	316					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATGAAGTCTTTTATTCTCCTC	0.428000													30	71					0	0	0.125774	0	0
ITGA5	3678	broad.mit.edu	37	12	54797093	54797093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:54797093G>A	ENST00000293379.4	-	18	2053	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	598					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTTGTCTCGAAATTCTGAC	0.572000													22	158					0	0	0.076483	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309541	1309541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:1309541C>T	ENST00000338370.3	-	2	737	c.337G>A	c.(337-339)Gag>Aag	p.E113K	AURKAIP1_ENST00000378853.3_Missense_Mutation_p.E113K|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.E113K|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.E113K			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	113					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCCCCTGCTCGGCCCCTTCC	0.627000													15	114					0	0	0.033300	0	0
C2orf53	339779	broad.mit.edu	37	2	27360598	27360598	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:27360598C>T	ENST00000335524.3	-	3	1125	c.600G>A	c.(598-600)aaG>aaA	p.K200K		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	200										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCAGGATCCTTCTCGCTTG	0.647000													4	36					0	0	0.009096	0	0
SFTA2	389376	broad.mit.edu	37	6	30899541	30899541	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:30899541C>G	ENST00000359086.3	-	2	171	c.93G>C	c.(91-93)aaG>aaC	p.K31N		NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	31						extracellular region				lung(2)	2						GAAAAGACTCCTTCAGCTTCA	0.502000													15	80					0	0	0.038395	0	0
DDX11	1663	broad.mit.edu	37	12	31249577	31249577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:31249577G>A	ENST00000407793.2	+	16	1779	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	DDX11_ENST00000350437.4_Missense_Mutation_p.G510R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.G484R|DDX11_ENST00000545668.1_Missense_Mutation_p.G510R|DDX11_ENST00000542838.1_Missense_Mutation_p.G510R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	510					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGCTCTTTGGATTCACTGA	0.592000										Multiple Myeloma(12;0.14)			9	57					0	0	0.058154	0	0
NBPF3	84224	broad.mit.edu	37	1	21807433	21807433	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:21807433G>A	ENST00000318220.6	+	15	2272	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	NBPF3_ENST00000342104.5_Silent_p.K452K|NBPF3_ENST00000318249.5_Silent_p.K464K|NBPF3_ENST00000454000.2_Silent_p.K394K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	464	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATGAAAAAGGACCAAGAAG	0.473000													11	189					0	0	0.132662	0	0
RHOC	389	broad.mit.edu	37	1	113246331	113246331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:113246331G>A	ENST00000285735.2	-	3	1300	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	RHOC_ENST00000369642.3_Missense_Mutation_p.P31S|RHOC_ENST00000339083.7_Missense_Mutation_p.P31S|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369637.1_Missense_Mutation_p.P31S|RHOC_ENST00000369633.2_Missense_Mutation_p.P31S|RHOC_ENST00000369636.2_Missense_Mutation_p.P31S|RHOC_ENST00000369632.2_Missense_Mutation_p.P31S|RHOC_ENST00000369638.2_Missense_Mutation_p.P31S|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.S194F			P08134	RHOC_HUMAN	ras homolog family member C	31					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGACCTCCGGAAACTGATCC	0.557000													5	26					0	0	0.014758	0	0
PRDM2	7799	broad.mit.edu	37	1	14106220	14106220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:14106220C>T	ENST00000235372.7	+	8	2786	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	PRDM2_ENST00000413440.1_Missense_Mutation_p.P443S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P443S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P644S|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	644						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AACTGCGAGCCCACCTGCACT	0.483000													7	25					0	0	0.029380	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013704	149013704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:149013704C>T	ENST00000535454.1	+	4	1207	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	MAGEA8_ENST00000542674.1_Missense_Mutation_p.P220S|MAGEA8_ENST00000286482.1_Missense_Mutation_p.P220S	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	220	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCGCGCCCCGGAGGAGGC	0.572000													16	41					0	0	0.038395	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120292521	120292521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:120292521C>T	ENST00000397843.2	+	6	474	c.308C>T	c.(307-309)gCc>gTc	p.A103V	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A84V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	103	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGGAGCAGCCATGCGGGCT	0.358000			T	MLL	AML								13	98					0	0	0.105934	0	0
GAS2	2620	broad.mit.edu	37	11	22777399	22777399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:22777399G>A	ENST00000454584.2	+	7	928	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GAS2_ENST00000433790.1_Missense_Mutation_p.R208Q|GAS2_ENST00000278187.3_Missense_Mutation_p.R208Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	208	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.R208Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CAGGTGAAACGAATTTCTGAA	0.448000													5	31					0	0	0.021553	0	0
LENEP	55891	broad.mit.edu	37	1	154966129	154966129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:154966129C>T	ENST00000392487.1	+	1	66	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	16					multicellular organismal development		DNA binding			lung(2)	2	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)			ACCCTTCTTCCTCGGAGGGGC	0.612000													9	84					0	0	0.069234	0	0
CCDC41	51134	broad.mit.edu	37	12	94806245	94806245	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:94806245C>G	ENST00000397809.5	-	3	571	c.22G>C	c.(22-24)Gat>Cat	p.D8H	CCDC41_ENST00000547575.1_Missense_Mutation_p.D8H|CCDC41_ENST00000397807.2_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.D8H	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	0										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						GTGTCCATATCGGTAAATGTG	0.393000													9	79					0	0	0.058154	0	0
DEFB125	245938	broad.mit.edu	37	20	76694	76694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:76694G>A	ENST00000382410.2	+	2	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	36					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GGACATTGCAGAAGACGATGT	0.348000													13	108					0	0	0.119110	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258025	9258025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:9258025C>T	ENST00000383440.2	+	8	4948	c.4691C>T	c.(4690-4692)tCa>tTa	p.S1564L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1564L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1587L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1587						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTGTTACCATCAGAAAAGGAC	0.393000													16	75					0	0	0.038395	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232248	32232248	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:32232248G>A	ENST00000346541.3	+	12	2148	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	CBFA2T2_ENST00000375279.2_Silent_p.E537E|CBFA2T2_ENST00000342704.5_Silent_p.E528E|CBFA2T2_ENST00000543126.1_Silent_p.E85E|CBFA2T2_ENST00000359606.3_Silent_p.E547E|CBFA2T2_ENST00000397800.1_Silent_p.E508E	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	537						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGGACTGGGAGCGGCACCACC	0.647000													19	85					0	0	0.062417	0	0
SLC46A1	113235	broad.mit.edu	37	17	26727669	26727669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:26727669G>A	ENST00000440501.1	-	5	1374	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.L398F|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	427					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTCCCAGGAGGAAGGGGAAC	0.552000													6	22					0	0	0.021553	0	0
C6orf10	10665	broad.mit.edu	37	6	32261003	32261003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32261003C>T	ENST00000375015.4	-	26	1644	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R	C6orf10_ENST00000533191.1_Missense_Mutation_p.G481R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G481R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G467R|C6orf10_ENST00000447241.2_Missense_Mutation_p.G483R|C6orf10_ENST00000442822.2_Intron			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	483	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCTTTTAGTACA	0.383000													20	160					0	0	0.069288	0	0
GPR98	84059	broad.mit.edu	37	5	89924464	89924464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:89924464C>T	ENST00000405460.2	+	8	1420	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	442					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCACTGATCCCTCACCAGT	0.438000													11	83					0	0	0.093190	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S148F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								15	88					0	0	0.038395	0	0
OR10A3	26496	broad.mit.edu	37	11	7960551	7960551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:7960551C>T	ENST00000360759.3	-	1	590	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTAATTTCATTGGGGCCA	0.413000													7	74					0	0	0.058154	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687610	151687610	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:151687610G>A	ENST00000325144.4	-	3	731	c.591C>T	c.(589-591)ccC>ccT	p.P197P		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGGTCTGCAGGGGGTCTGAGG	0.582000													6	56					0	0	0.038147	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117232	46117232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr21:46117232C>T	ENST00000400365.3	+	1	146	c.116C>T	c.(115-117)cCc>cTc	p.P39L	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	39	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGCTGTGAGCCCCCCTGCTGC	0.682000													18	119					0	0	0.076483	0	0
NARF	26502	broad.mit.edu	37	17	80445854	80445854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:80445854C>T	ENST00000390006.4	+	11	1489	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	NARF_ENST00000345415.7_Missense_Mutation_p.R350W|NARF_ENST00000457415.3_Missense_Mutation_p.R444W|NARF_ENST00000309794.10_Missense_Mutation_p.R398W	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	398						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCCCTGCTGCGGCAGATGGA	0.567000													4	94					0	0	0.009096	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642062	127642062	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:127642062G>T	ENST00000405109.1	+	2	625	c.158G>T	c.(157-159)aGc>aTc	p.S53I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.S53I|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	53	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GCTGCATTTAGCCCTTATTTC	0.393000													3	49					0.00909568	0.00927446	0.009096	1	0
CACHD1	57685	broad.mit.edu	37	1	65142646	65142646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:65142646C>T	ENST00000371073.2	+	22	3044	c.3044C>T	c.(3043-3045)gCt>gTt	p.A1015V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A964V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1015					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGCAAGATGCTCTTCACCAG	0.493000													16	86					0	0	0.038395	0	0
RBM12	10137	broad.mit.edu	37	20	34242197	34242197	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:34242197A>C	ENST00000374114.3	-	3	1311	c.1048T>G	c.(1048-1050)Ttt>Gtt	p.F350V	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.F350V|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.F350V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	350	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGGAGAGAAACTTAACCAAT	0.413000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	139					0	0	0.134883	0	0
VPS35	55737	broad.mit.edu	37	16	46697009	46697009	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:46697009C>T	ENST00000299138.7	-	14	1771	c.1713G>A	c.(1711-1713)ttG>ttA	p.L571L		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	571					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTGCTTTGATCAAAGCACTGA	0.378000													8	39					0	0	0.038147	0	0
AGR3	155465	broad.mit.edu	37	7	16901068	16901068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:16901068C>T	ENST00000310398.2	-	6	377	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	AGR3_ENST00000402239.3_Missense_Mutation_p.E103K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	103						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCAGTGGTTTCATGCTAGCAG	0.323000													17	129					0	0	0.033300	0	0
ZNF536	9745	broad.mit.edu	37	19	30935385	30935385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:30935385G>A	ENST00000355537.3	+	2	1063	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACGTTGTGCGACTTCGCGGC	0.642000													10	112					0	0	0.093190	0	0
SFTA2	389376	broad.mit.edu	37	6	30899540	30899540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:30899540C>A	ENST00000359086.3	-	2	172	c.94G>T	c.(94-96)Gag>Tag	p.E32*		NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	32						extracellular region				lung(2)	2						AGAAAAGACTCCTTCAGCTTC	0.498000													16	80					1.33834e-09	1.38506e-09	0.043863	1	0
ZDHHC8	29801	broad.mit.edu	37	22	20128799	20128799	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:20128799C>T	ENST00000334554.7	+	8	1095	c.954C>T	c.(952-954)ccC>ccT	p.P318P	ZDHHC8_ENST00000405930.3_Silent_p.P318P|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.P226P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	318						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACCACTGCCCCCCAAGATAG	0.652000													5	36					0	0	0.029380	0	0
ERCC5	2073	broad.mit.edu	37	13	103504564	103504564	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:103504564T>C	ENST00000355739.4	+	2	1608	c.185T>C	c.(184-186)cTc>cCc	p.L62P	BIVM-ERCC5_ENST00000602836.1_Silent_p.A487A|ERCC5_ENST00000535557.1_Missense_Mutation_p.L62P	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTCATCGGCTCTGCAAACTC	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	56					0	0	0.115264	0	0
INPP5A	3632	broad.mit.edu	37	10	134563053	134563053	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:134563053C>T	ENST00000368594.3	+	10	1042	c.765C>T	c.(763-765)gtC>gtT	p.V255V	INPP5A_ENST00000368593.3_Silent_p.V255V	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	255					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGCAGACGGTCCGGGCCGCCG	0.622000													3	60					0	0	0.009096	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103059315	103059315	+	Silent	SNP	A	A	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:103059315A>T	ENST00000375735.2	+	44	7374	c.7230A>T	c.(7228-7230)ggA>ggT	p.G2410G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.G2410G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2410	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGCTGGAGGAAGACTGGGAA	0.333000													5	50					0	0	0.014758	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494147	45494147	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:45494147C>T	ENST00000541297.2	+	11	1786	c.1321C>T	c.(1321-1323)Cta>Tta	p.L441L	CLPTM1_ENST00000546079.1_Silent_p.L353L|CLPTM1_ENST00000337392.5_Silent_p.L455L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	455					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCCCCCGCCTATCCTTCAA	0.582000													10	52					0	0	0.093190	0	0
PTAFR	5724	broad.mit.edu	37	1	28476798	28476798	+	Silent	SNP	G	G	A	rs144798109	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:28476798G>A	ENST00000373857.3	-	2	1369	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PTAFR_ENST00000539896.1_Silent_p.F245F|PTAFR_ENST00000305392.3_Silent_p.F245F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	245					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGGGCACGAAGCAGATGA	0.612000													11	39					0	0	0.093190	0	0
PHF21B	112885	broad.mit.edu	37	22	45278977	45278977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:45278977C>T	ENST00000313237.5	-	13	1735	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	PHF21B_ENST00000403565.1_Missense_Mutation_p.G325S|PHF21B_ENST00000396103.3_Missense_Mutation_p.G487S|PHF21B_ENST00000404079.2_Missense_Mutation_p.G475S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	529							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAGTTGTGGCCCTGGGGGTGC	0.617000													20	172					0	0	0.069288	0	0
OR4M1	441670	broad.mit.edu	37	14	20248759	20248759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:20248759C>T	ENST00000315957.4	+	1	359	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGATAATTTCCTTTGGTGGA	0.448000													42	409					0	0	0.139131	0	0
AHNAK	79026	broad.mit.edu	37	11	62298311	62298311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:62298311G>A	ENST00000378024.4	-	5	3852	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1193					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGATCTTGGGGGTCTTGAA	0.512000													38	317					0	0	0.098360	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811112	106811112	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:106811112C>T	ENST00000407775.2	+	7	1150	c.900C>T	c.(898-900)ttC>ttT	p.F300F	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.F168F|ZFPM2_ENST00000517361.1_Silent_p.F168F|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.F31F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	300					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTGCCCCTTCCCACAGTGCA	0.488000													12	146					0	0	0.033300	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								3	34					0	0	0.115264	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691817	77691817	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:77691817C>T	ENST00000296043.6	+	10	6341	c.5388C>T	c.(5386-5388)acC>acT	p.T1796T	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1796	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGCTGGAGACCCTCCAGGAGG	0.567000													3	46					0	0	0.115264	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967784	10967784	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:10967784C>T	ENST00000254488.2	+	9	1281	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	405					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGCTCATCTTCCTGGGCCTGG	0.657000													17	171					0	0	0.043863	0	0
UBTF	7343	broad.mit.edu	37	17	42290269	42290269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:42290269G>A	ENST00000302904.4	-	7	1070	c.578C>T	c.(577-579)tCg>tTg	p.S193L	UBTF_ENST00000529383.1_Missense_Mutation_p.S193L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.S193L|UBTF_ENST00000527034.1_Missense_Mutation_p.S193L|UBTF_ENST00000343638.5_Missense_Mutation_p.S193L|UBTF_ENST00000526094.1_Missense_Mutation_p.S193L|UBTF_ENST00000436088.1_Missense_Mutation_p.S193L|UBTF_ENST00000393606.3_Missense_Mutation_p.S193L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	193					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGATGTCCGATTTCTTGGC	0.587000													25	170					0	0	0.125774	0	0
FASN	2194	broad.mit.edu	37	17	80045901	80045901	+	Missense_Mutation	SNP	G	G	A	rs146356200		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:80045901G>A	ENST00000306749.2	-	18	3013	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	932					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACCTCCAGGGACACTGTCCC	0.667000													16	53					0	0	0.043863	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444216	15444216	+	Silent	SNP	C	C	T	rs140722077	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:15444216C>T	ENST00000295297.4	+	3	943	c.684C>T	c.(682-684)ttC>ttT	p.F228F	C1QTNF7_ENST00000429690.1_Silent_p.F221F|C1QTNF7_ENST00000444304.2_Silent_p.F221F	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	221	C1q.					collagen		p.F221F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TAAAGACCTTCGACGCCAACA	0.463000													6	121					0	0	0.047766	0	0
SERPINA3	12	broad.mit.edu	37	14	95088721	95088721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:95088721G>A	ENST00000553947.1	+	7	1924	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000467132.1_Missense_Mutation_p.D321N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D103N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D321N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D321N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	321				I -> S (in Ref. 3; AAT08028).	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCTCGAGGGACTATAACCT	0.493000													14	72					0	0	0.132662	0	0
CDX1	1044	broad.mit.edu	37	5	149563090	149563090	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:149563090G>A	ENST00000231656.8	+	3	727	c.645G>A	c.(643-645)aaG>aaA	p.K215K		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACAAGAAGAAACAGCAGC	0.627000													10	34					0	0	0.105934	0	0
IFIT2	3433	broad.mit.edu	37	10	91066196	91066196	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:91066196T>A	ENST00000371826.3	+	2	652	c.483T>A	c.(481-483)ttT>ttA	p.F161L	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	161					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGGTGTGCTTTGAGAAGGCTC	0.498000													5	40					0	0	0.014758	0	0
SALL1	6299	broad.mit.edu	37	16	51172617	51172617	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:51172617C>T	ENST00000440970.1	-	2	3656	c.3225G>A	c.(3223-3225)acG>acA	p.T1075T	SALL1_ENST00000251020.4_Silent_p.T1172T|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1172					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCTTTAGTCGTGAAAGCTC	0.488000													7	50					0	0	0.058154	0	0
DLAT	1737	broad.mit.edu	37	11	111896990	111896990	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:111896990G>A	ENST00000280346.6	+	2	1007	c.348G>A	c.(346-348)ggG>ggA	p.G116G	DLAT_ENST00000393051.1_Silent_p.G116G|DLAT_ENST00000537636.1_Silent_p.G14G	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	116	Lipoyl-binding 1.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AAAAAGAGGGGGACAAAATCA	0.338000													3	23					0	0	0.009096	0	0
MBD5	55777	broad.mit.edu	37	2	149227047	149227047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:149227047C>T	ENST00000407073.1	+	9	2532	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	MBD5_ENST00000404807.1_Missense_Mutation_p.S512F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	512						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTACCAAGTCCGATGGACAT	0.473000													5	59					0	0	0.014758	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976458	89976458	+	RNA	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:89976458T>C	ENST00000474213.1	+	0	364																											GATGTTGGGGTTTATTACTGC	0.557000													5	106					0	0	0.021553	0	0
CAND1	55832	broad.mit.edu	37	12	67699410	67699410	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:67699410C>T	ENST00000545606.1	+	10	2399	c.1962C>T	c.(1960-1962)atC>atT	p.I654I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	654					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGGTTCCTATCCTTGCTTCAT	0.403000													11	104					0	0	0.069234	0	0
ACSM1	116285	broad.mit.edu	37	16	20681188	20681188	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:20681188G>A	ENST00000307493.4	-	5	940	c.873C>T	c.(871-873)atC>atT	p.I291I	ACSM1_ENST00000520010.1_Silent_p.I291I|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	291					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCAGATGGTGGATAAAGACTG	0.478000													9	83					0	0	0.093190	0	0
MACF1	23499	broad.mit.edu	37	1	39800890	39800890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:39800890C>T	ENST00000564288.1	+	37	9407	c.8630C>T	c.(8629-8631)tCc>tTc	p.S2877F	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1317F|MACF1_ENST00000567887.1_Missense_Mutation_p.S2914F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2882F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2882					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGGTAAATCCTTGGGCCAA	0.353000													15	81					0	0	0.038395	0	0
TUSC5	286753	broad.mit.edu	37	17	1183460	1183460	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:1183460G>A	ENST00000333813.3	+	1	504	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	55					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCTGGAGCAGAACAGCCAGG	0.632000													7	68					0	0	0.038147	0	0
SFXN4	119559	broad.mit.edu	37	10	120907304	120907304	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:120907304G>T	ENST00000355697.2	-	12	820	c.801C>A	c.(799-801)ttC>ttA	p.F267L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.F258L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	267					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAAAGTAGGTGAAGACTTCAG	0.423000													22	75					1.2476e-16	1.29438e-16	0.116897	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300032	125300032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:125300032C>T	ENST00000298282.9	+	12	1458	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332L|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGGACAAACCCCGATGGTAAG	0.602000													4	36					0	0	0.009096	0	0
MBD5	55777	broad.mit.edu	37	2	149227048	149227048	+	Silent	SNP	C	C	T	rs147908860		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:149227048C>T	ENST00000407073.1	+	9	2533	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	MBD5_ENST00000404807.1_Silent_p.S512S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	512						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTACCAAGTCCGATGGACATC	0.473000													5	59					0	0	0.014758	0	0
SRMS	6725	broad.mit.edu	37	20	62174757	62174757	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:62174757C>T	ENST00000217188.1	-	3	595	c.555G>A	c.(553-555)cgG>cgA	p.R185R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	185	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGGAAAGAGCCGTCCCTTCT	0.627000													11	66					0	0	0.105934	0	0
RBMX	27316	broad.mit.edu	37	X	135956422	135956422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:135956422G>A	ENST00000320676.7	-	9	1209	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.S217F|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Missense_Mutation_p.S224F	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	352						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTCCATAGAAGGGGGAAG	0.557000													4	125					0	0	0.069288	0	0
KHNYN	23351	broad.mit.edu	37	14	24906411	24906411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:24906411G>A	ENST00000251343.5	+	8	2096	c.1957G>A	c.(1957-1959)Gtg>Atg	p.V653M	KHNYN_ENST00000556842.1_Missense_Mutation_p.V653M|KHNYN_ENST00000554268.1_Missense_Mutation_p.V98M|KHNYN_ENST00000553935.1_Missense_Mutation_p.V653M			O15037	KHNYN_HUMAN	KH and NYN domain containing	653										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGATCACAAAGTGGACTTCAT	0.567000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	81					0	0	0.119110	0	0
RNF26	79102	broad.mit.edu	37	11	119206803	119206803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:119206803G>A	ENST00000311413.4	+	1	1567	c.971G>A	c.(970-972)aGa>aAa	p.R324K		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	324							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		AGGACCCGGAGACAGGACACT	0.622000													5	56					0	0	0.014758	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696930	50696930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:50696930G>A	ENST00000008391.3	+	5	1016	c.788G>A	c.(787-789)cGc>cAc	p.R263H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGGGGGCCGCTGCCTGAGA	0.418000													4	127					0	0	0.009096	0	0
THBS4	7060	broad.mit.edu	37	5	79351699	79351699	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:79351699C>T	ENST00000350881.2	+	3	574	c.384C>T	c.(382-384)ctC>ctT	p.L128L	THBS4_ENST00000511733.1_Silent_p.L37L|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	128	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACAGGATCCTCCTGAGGCTGA	0.577000													22	158					0	0	0.076483	0	0
ABCA3	21	broad.mit.edu	37	16	2373618	2373618	+	Silent	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:2373618C>G	ENST00000301732.5	-	7	1219	c.519G>C	c.(517-519)ctG>ctC	p.L173L	ABCA3_ENST00000382381.3_Silent_p.L173L|ABCA3_ENST00000567910.1_Silent_p.L173L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	173					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGTCTCTTTCAGGAAAAAGG	0.488000													6	405					0	0	0.029380	0	0
ERN2	10595	broad.mit.edu	37	16	23718381	23718381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:23718381G>A	ENST00000256797.4	-	5	638	c.470C>T	c.(469-471)cCt>cTt	p.P157L	ERN2_ENST00000457008.2_Missense_Mutation_p.P109L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	109					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACCAGCTCAGGGATGGTGAA	0.547000													3	68					0	0	0.009096	0	0
CAND1	55832	broad.mit.edu	37	12	67699411	67699411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:67699411C>T	ENST00000545606.1	+	10	2400	c.1963C>T	c.(1963-1965)Ctt>Ttt	p.L655F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	655					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGTTCCTATCCTTGCTTCATT	0.408000													11	104					0	0	0.069234	0	0
DUSP16	80824	broad.mit.edu	37	12	12629865	12629865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:12629865C>T	ENST00000228862.2	-	7	2531	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	634					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGATGCTCTCTCCAAATTCC	0.522000													35	235					0	0	0.092188	0	0
SRRM2	23524	broad.mit.edu	37	16	2815745	2815745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:2815745C>T	ENST00000301740.8	+	11	5765	c.5216C>T	c.(5215-5217)tCg>tTg	p.S1739L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1739	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCGAAAAATCGAGGTCTTCA	0.597000													4	31					0	0	0.009096	0	0
PTPRC	5788	broad.mit.edu	37	1	198691545	198691545	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:198691545G>A	ENST00000367376.2	+	15	1825	c.1653_splice	c.e15-1	p.A552_splice	PTPRC_ENST00000352140.3_Splice_Site_p.A504_splice|PTPRC_ENST00000594404.1_Splice_Site_p.A391_splice|PTPRC_ENST00000442510.2_Splice_Site_p.A554_splice|PTPRC_ENST00000348564.6_Splice_Site_p.A393_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	552	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAATTCAGGCCTATTTTCA	0.229000													13	127					0	0	0.033300	0	0
PTCHD2	57540	broad.mit.edu	37	1	11577549	11577549	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:11577549C>T	ENST00000294484.6	+	7	1917	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	PTCHD2_ENST00000389575.3_Silent_p.F593F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	593	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTGGCCTGTTCATGTCTCTCA	0.617000													15	130					0	0	0.038395	0	0
HECTD3	79654	broad.mit.edu	37	1	45475072	45475072	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:45475072G>T	ENST00000372172.4	-	6	1029	c.958C>A	c.(958-960)Ctg>Atg	p.L320M		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	320	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGCTTCTTCAGGTTGTCCCCT	0.542000													35	248					2.26627e-22	2.36307e-22	0.098360	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1706284	1706284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:1706284C>T	ENST00000397412.3	+	10	1625	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P506L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P509L|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	509						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCGGACGCTCCTGACAGGCCT	0.697000													4	9					0	0	0.014758	0	0
ARID2	196528	broad.mit.edu	37	12	46243878	46243878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46243878C>T	ENST00000334344.6	+	15	2144	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q509*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q268*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGTTGCCAACCAATCTTCAAA	0.383000			"""N, S, F"""		hepatocellular carcinoma								13	123					0	0	0.132662	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999174	143999174	+	Missense_Mutation	SNP	G	G	A	rs143027239		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:143999174G>A	ENST00000323110.2	-	1	85	c.83C>T	c.(82-84)gCc>gTc	p.A28V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	28					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCCCGAGCGGCTCTAGTGCC	0.647000									Familial Hyperaldosteronism type I				17	99					0	0	0.043863	0	0
SCN11A	11280	broad.mit.edu	37	3	38936084	38936084	+	Missense_Mutation	SNP	G	G	T	rs140576269	by1000genomes	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:38936084G>T	ENST00000302328.3	-	15	2973	c.2775C>A	c.(2773-2775)gaC>gaA	p.D925E	SCN11A_ENST00000456224.3_Missense_Mutation_p.D925E|SCN11A_ENST00000444237.2_Missense_Mutation_p.D925E|SCN11A_ENST00000450244.1_Missense_Mutation_p.D925E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	925					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAATTCAACGTCATCTTCCT	0.483000													37	166					3.61848e-18	3.76358e-18	0.098360	1	0
COL3A1	1281	broad.mit.edu	37	2	189858774	189858774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:189858774G>A	ENST00000304636.3	+	17	1330	c.1160G>A	c.(1159-1161)gGg>gAg	p.G387E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G387E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	387	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCTCCTGGGATTAATGGT	0.373000													5	42					0	0	0.029380	0	0
MTO1	25821	broad.mit.edu	37	6	74189658	74189658	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:74189658G>A	ENST00000498286.1	+	6	1215		c.e6-1		MTO1_ENST00000370305.1_Splice_Site|MTO1_ENST00000415954.2_Splice_Site|MTO1_ENST00000370300.4_Splice_Site			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1						tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTCTATTCTAGATACTGTCCC	0.393000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	52					0	0	0.021553	0	0
AMY2B	280	broad.mit.edu	37	1	104117928	104117928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:104117928G>A	ENST00000361355.4	+	8	1578	c.962G>A	c.(961-963)gGg>gAg	p.G321E	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	321					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CGAGGACATGGGGCTGGAGGA	0.398000													28	505					0	0	0.059317	0	0
COMMD1	150684	broad.mit.edu	37	2	62228057	62228057	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:62228057C>T	ENST00000311832.5	+	2	434	c.402C>T	c.(400-402)caC>caT	p.H134H	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Silent_p.H134H	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	134	COMM.				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGTCAAGGCACTCAGCTCAAA	0.458000													6	55					0	0	0.021553	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922366	178922366	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:178922366T>A	ENST00000263967.3	+	6	1292	c.1135T>A	c.(1135-1137)Tcc>Acc	p.S379T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	379	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTACCTTGTTCCAATCCCAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	94					0	0	0.062417	0	0
CARNS1	57571	broad.mit.edu	37	11	67187009	67187009	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:67187009C>T	ENST00000445895.2	+	5	1018	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CARNS1_ENST00000307823.3_Silent_p.L179L|CARNS1_ENST00000423745.2_Silent_p.L179L|CARNS1_ENST00000531040.1_Silent_p.L302L			A5YM72	CRNS1_HUMAN	carnosine synthase 1	179					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGCATGGCGTCTGCACCCGCG	0.672000													4	13					0	0	0.014758	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588672	140588672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140588672C>T	ENST00000239450.2	+	1	382	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		65	Cadherin 1.				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)			GCGGGGGGCTCGGGTGGTTTC	0.517000													9	117					0	0	0.058154	0	0
C1orf173	127254	broad.mit.edu	37	1	75107096	75107096	+	Silent	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:75107096A>G	ENST00000326665.5	-	5	581	c.363T>C	c.(361-363)tcT>tcC	p.S121S		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	121										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGGTGGGGAGACAGGATTG	0.418000													4	94					0	0	0.009096	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730626	173730626	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:173730626C>G	ENST00000506823.1	+	6	1325	c.668C>G	c.(667-669)gCc>gGc	p.A223G	GALNTL6_ENST00000508122.1_Missense_Mutation_p.A206G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	223	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCATCTATGGCCAGAGGAGAA	0.527000													9	54					0	0	0.058154	0	0
PNCK	139728	broad.mit.edu	37	X	152936406	152936406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:152936406C>T	ENST00000393831.2	-	9	1276	c.842G>A	c.(841-843)aGg>aAg	p.R281K	PNCK_ENST00000447676.2_Missense_Mutation_p.R341K|PNCK_ENST00000370142.1_Missense_Mutation_p.R281K|PNCK_ENST00000370145.4_Missense_Mutation_p.R275K|PNCK_ENST00000370150.1_Missense_Mutation_p.R258K|PNCK_ENST00000340888.3_Missense_Mutation_p.R258K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	258						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGTGAACCTCTTCTGGGG	0.642000													6	37					0	0	0.038147	0	0
MTUS2	23281	broad.mit.edu	37	13	29599397	29599397	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:29599397G>T	ENST00000431530.3	+	1	650	c.592G>T	c.(592-594)Ggg>Tgg	p.G198W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	188						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.G198R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTGCAGTCGGGAGCCTGAC	0.582000													6	54					2.7689e-08	2.85844e-08	0.029380	1	0
DNAJB14	79982	broad.mit.edu	37	4	100851674	100851674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:100851674C>T	ENST00000442697.2	-	2	392	c.238G>A	c.(238-240)Gac>Aac	p.D80N	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	80					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GATGTGCTGTCCTTTGTGCAA	0.413000													9	243					0	0	0.069234	0	0
GDPD5	81544	broad.mit.edu	37	11	75160936	75160936	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:75160936G>A	ENST00000526177.1	-	3	1932	c.54C>T	c.(52-54)tcC>tcT	p.S18S	GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000529721.1_Silent_p.S156S|GDPD5_ENST00000336898.3_Silent_p.S156S|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	156					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCACCTGCAGGGAGATCAGCA	0.637000													3	54					0	0	0.009096	0	0
FRYL	285527	broad.mit.edu	37	4	48503670	48503670	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:48503670G>A	ENST00000358350.4	-	62	9166	c.8562C>T	c.(8560-8562)aaC>aaT	p.N2854N	FRYL_ENST00000264319.7_Silent_p.N244N|FRYL_ENST00000537810.1_Silent_p.N2854N|FRYL_ENST00000503238.1_Silent_p.N2854N|FRYL_ENST00000507873.2_Silent_p.N244N	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2854					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATTTACTTGGTTGATAAGTT	0.299000													20	158					0	0	0.108266	0	0
CNTN3	5067	broad.mit.edu	37	3	74347318	74347318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:74347318C>T	ENST00000263665.6	-	17	2218	c.2191G>A	c.(2191-2193)Ggt>Agt	p.G731S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	731	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAACCTTCACCATTCTGTAGT	0.468000													6	53					0	0	0.038147	0	0
FAT4	79633	broad.mit.edu	37	4	126371211	126371211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:126371211G>A	ENST00000394329.3	+	9	9053	c.9040G>A	c.(9040-9042)Gga>Aga	p.G3014R	FAT4_ENST00000335110.5_Missense_Mutation_p.G1312R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3014	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAGATTTTGGACTGAATTC	0.343000													6	56					0	0	0.038147	0	0
STPG2	285555	broad.mit.edu	37	4	98762037	98762037	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:98762037A>G	ENST00000295268.3	-	9	1180	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AACTTGGGACATCTCATATGA	0.358000													5	75					0	0	0.029380	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:126370225G>A	ENST00000394329.3	+	9	8067	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R983Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2685Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCCCCTCGAAAAATACTT	0.348000													22	168					0	0	0.099896	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205149	61205149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:61205149C>T	ENST00000301761.2	+	2	163	c.89C>T	c.(88-90)tCa>tTa	p.S30L	RP11-286N22.8_ENST00000544880.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.S18L|SDHAF2_ENST00000537782.1_Missense_Mutation_p.S30L|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Missense_Mutation_p.S30L|SDHAF2_ENST00000534878.1_Missense_Mutation_p.S30L	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	30					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						AGTGTGACATCATTCAGACGC	0.433000													16	149					0	0	0.049695	0	0
P4HA3	283208	broad.mit.edu	37	11	73997013	73997013	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:73997013G>A	ENST00000331597.4	-	7	996	c.951C>T	c.(949-951)atC>atT	p.I317I	P4HA3_ENST00000427714.2_Silent_p.I317I	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	317						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGAGGCTAGGGATCTGGTAGA	0.493000													14	116					0	0	0.038395	0	0
ERC2	26059	broad.mit.edu	37	3	55984490	55984490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:55984490C>T	ENST00000288221.6	-	13	2621	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	789						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)		GCTGTCTTCTCGCCTGCGCAC	0.428000													3	45					0	0	0.115264	0	0
JPH1	56704	broad.mit.edu	37	8	75157300	75157300	+	Missense_Mutation	SNP	G	G	A	rs138696789		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:75157300G>A	ENST00000342232.4	-	4	1409	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	457					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCTTTGCGATAAAAATGA	0.493000													9	94					0	0	0.069234	0	0
APBA1	320	broad.mit.edu	37	9	72055928	72055928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:72055928C>T	ENST00000265381.4	-	11	2507	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	762	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATTCTGGACGCTGAAACCGAG	0.483000													28	131					0	0	0.074837	0	0
FAAH2	158584	broad.mit.edu	37	X	57458404	57458404	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:57458404G>A	ENST00000374900.4	+	8	1170	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	350						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGTTAAACTGAAGAAAATGA	0.348000										HNSCC(52;0.14)			10	38					0	0	0.080935	0	0
ZBED2	79413	broad.mit.edu	37	3	111312619	111312619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:111312619C>T	ENST00000317012.4	-	2	1438	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	144							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCACCTGCTCCAGGAGCCTA	0.627000													8	61					0	0	0.047766	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	81					0	0	0.146539	0	0
USP11	8237	broad.mit.edu	37	X	47101088	47101088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:47101088G>A	ENST00000377107.2	+	9	1523	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	USP11_ENST00000218348.3_Missense_Mutation_p.R433Q			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	433					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCTGCTGGGCGACCGGATCAG	0.577000													3	17					0	0	0.009096	0	0
RGPD3	653489	broad.mit.edu	37	2	107041192	107041192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:107041192C>T	ENST00000409886.3	-	20	3318	c.3231G>A	c.(3229-3231)tgG>tgA	p.W1077*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.W1077*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1077	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCTTTCTTTCCACTGACTTA	0.383000													27	458					0	0	0.064281	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696234	10696234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:10696234G>A	ENST00000302079.6	-	43	6688	c.6689C>T	c.(6688-6690)cCg>cTg	p.P2230L	PIEZO2_ENST00000538948.1_Missense_Mutation_p.P187L|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2255L|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2230L|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P85L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2230						integral to membrane	ion channel activity										AAACGGCCCCGGGACCTGGTC	0.527000													8	64					0	0	0.058154	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571882	47571882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:47571882C>T	ENST00000334194.3	+	9	1153	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	384						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AAACATATCCCGGTTACTCGA	0.478000													16	90					0	0	0.049695	0	0
CD1E	913	broad.mit.edu	37	1	158326598	158326598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:158326598C>T	ENST00000444681.2	+	5	1075	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CD1E_ENST00000368155.3_Missense_Mutation_p.S203L|CD1E_ENST00000368156.1_Missense_Mutation_p.S258L|CD1E_ENST00000368165.3_Missense_Mutation_p.S270L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.S116L|CD1E_ENST00000452291.2_Missense_Mutation_p.S171L|CD1E_ENST00000368163.3_Missense_Mutation_p.S293L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.S348L|CD1E_ENST00000368167.3_Missense_Mutation_p.S360L|CD1E_ENST00000368157.1_Missense_Mutation_p.S104L|CD1E_ENST00000368166.3_Missense_Mutation_p.S159L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	360	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCAAGAATTCAAGACATCAG	0.448000													14	103					0	0	0.132662	0	0
SLC34A1	6569	broad.mit.edu	37	5	176821168	176821168	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:176821168C>T	ENST00000324417.5	+	10	1237	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	SLC34A1_ENST00000513614.1_Intron	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	382					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAAGTGGCCAAGGTCATCC	0.587000													32	209					0	0	0.045705	0	0
OR4A15	81328	broad.mit.edu	37	11	55135721	55135721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:55135721C>T	ENST00000314706.3	+	1	362	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGACCATTTCCTTTCAGGGT	0.388000													27	174					0	0	0.134883	0	0
ZNF836	162962	broad.mit.edu	37	19	52658648	52658648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:52658648G>A	ENST00000322146.8	-	5	2809	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.S763L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGGTTCGAAGTGGAATT	0.423000													7	56					0	0	0.029380	0	0
STOML2	30968	broad.mit.edu	37	9	35101910	35101910	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:35101910G>A	ENST00000356493.5	-	4	395	c.333C>T	c.(331-333)gaC>gaT	p.D111D	STOML2_ENST00000452248.2_Silent_p.D111D|STOML2_ENST00000487490.1_5'UTR	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	111						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCTTGTAAGGGTCCATGATGC	0.483000													25	60					0	0	0.125774	0	0
PCNX	22990	broad.mit.edu	37	14	71485730	71485730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:71485730C>T	ENST00000304743.2	+	12	3447	c.3001C>T	c.(3001-3003)Cgt>Tgt	p.R1001C	PCNX_ENST00000439984.3_Missense_Mutation_p.R890C|PCNX_ENST00000238570.5_Missense_Mutation_p.R1001C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1001						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCGTAGAAATCGTGAGATCCT	0.368000													12	82					0	0	0.105934	0	0
MYH1	4619	broad.mit.edu	37	17	10411810	10411810	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:10411810C>T	ENST00000226207.5	-	16	1861	c.1767G>A	c.(1765-1767)gtG>gtA	p.V589V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	589	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTTGTAGTCCACGGTGCCAG	0.512000													6	66					0	0	0.029380	0	0
LRP1	4035	broad.mit.edu	37	12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCTGCTGCTGGTTCTGGT	0.547000													3	163					0	0	0.115264	0	0
CNDP2	55748	broad.mit.edu	37	18	72186305	72186305	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:72186305C>T	ENST00000324262.4	+	11	1648	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	CNDP2_ENST00000324301.8_Silent_p.A360A|CNDP2_ENST00000579847.1_Silent_p.A444A	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	444						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGACGGAGCCCACTCCCAGA	0.632000													8	46					0	0	0.038147	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100496628	100496628	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:100496628T>A	ENST00000279907.7	-	4	466	c.254A>T	c.(253-255)gAt>gTt	p.D85V	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D85V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	85										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATTACTTTATCCAGGGACTA	0.294000													7	41					0	0	0.029380	0	0
TMC2	117532	broad.mit.edu	37	20	2575520	2575520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:2575520G>A	ENST00000358864.1	+	9	998	c.983G>A	c.(982-984)aGg>aAg	p.R328K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	328						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAACCAGAGGACCATCGGG	0.517000													11	75					0	0	0.069234	0	0
TMEM88	92162	broad.mit.edu	37	17	7758414	7758414	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:7758414C>G	ENST00000301599.6	+	1	32	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	TMEM88_ENST00000574668.1_Missense_Mutation_p.Q8E	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	8						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CCCCGGGGCACAGCGAGCGGT	0.701000													5	31					0	0	0.021553	0	0
TRRAP	8295	broad.mit.edu	37	7	98609040	98609040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:98609040C>T	ENST00000359863.4	+	71	11386	c.11177C>T	c.(11176-11178)cCt>cTt	p.P3726L	TRRAP_ENST00000446306.3_Missense_Mutation_p.P3715L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P3697L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3726	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCAACCGTCCTGTCCCATTT	0.527000													7	83					0	0	0.038147	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306986	120306986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:120306986G>A	ENST00000369406.3	-	2	417	c.368C>T	c.(367-369)tCt>tTt	p.S123F	HMGCS2_ENST00000544913.2_Missense_Mutation_p.S123F|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	123					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCTGCCCACAGAGTCCCATGG	0.537000													14	103					0	0	0.033300	0	0
HEATR5B	54497	broad.mit.edu	37	2	37267538	37267538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:37267538C>T	ENST00000233099.5	-	20	3075	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E994K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	994							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATGAACTTCTGTATGTGAA	0.413000													6	106					0	0	0.029380	0	0
GFRA3	2676	broad.mit.edu	37	5	137600085	137600085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:137600085C>T	ENST00000274721.3	-	2	490	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	GFRA3_ENST00000378362.3_Missense_Mutation_p.V82I	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	82					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGCAGGGACCGAAGGCTCC	0.602000													8	53					0	0	0.038147	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128800	20128800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:20128800C>T	ENST00000334554.7	+	8	1096	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P319S|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P227S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	319						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					ACCACTGCCCCCCAAGATAGA	0.652000													5	38					0	0	0.029380	0	0
NUP160	23279	broad.mit.edu	37	11	47830020	47830020	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:47830020G>T	ENST00000378460.2	-	18	2349	c.2303C>A	c.(2302-2304)cCc>cAc	p.P768H	NUP160_ENST00000530326.1_Missense_Mutation_p.P654H|NUP160_ENST00000528071.1_Missense_Mutation_p.P654H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	768					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TAAGAGTAGGGGAGCTGTTCG	0.408000													5	61					2.0095e-06	2.06421e-06	0.029380	1	0
TIGD3	220359	broad.mit.edu	37	11	65124093	65124093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:65124093G>A	ENST00000309880.5	+	2	1021	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	272	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGTGGTGGAGGAGCTGGCAGG	0.652000													14	76					0	0	0.119110	0	0
MXRA5	25878	broad.mit.edu	37	X	3238496	3238496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:3238496C>T	ENST00000217939.6	-	5	5384	c.5230G>A	c.(5230-5232)Gga>Aga	p.G1744R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1744						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGGTGACTCCCAACTGTGGA	0.463000													4	12					0	0	0.009096	0	0
ATP12A	479	broad.mit.edu	37	13	25255747	25255747	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:25255747C>T	ENST00000218548.6	+	2	390	c.57C>T	c.(55-57)atC>atT	p.I19I	ATP12A_ENST00000381946.3_Silent_p.I19I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	19					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTAAGGACATCGTGAAAACAG	0.468000													7	74					0	0	0.029380	0	0
SIK3	23387	broad.mit.edu	37	11	116729109	116729109	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:116729109C>T	ENST00000375300.1	-	20	2933	c.2928G>A	c.(2926-2928)cgG>cgA	p.R976R	SIK3_ENST00000542607.1_Silent_p.R858R|SIK3_ENST00000446921.2_Silent_p.R916R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.R757R|SIK3_ENST00000292055.4_Silent_p.R918R|SIK3_ENST00000375288.1_Silent_p.R253R			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	918						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCGAATGCCGGGGAGAAA	0.602000													8	84					0	0	0.047766	0	0
PRPF18	8559	broad.mit.edu	37	10	13642301	13642301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:13642301C>T	ENST00000378572.3	+	3	362	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	68					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGTGTTAGAACTTGAACTGGC	0.353000													13	57					0	0	0.038395	0	0
BRD3	8019	broad.mit.edu	37	9	136915577	136915577	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:136915577G>A	ENST00000303407.7	-	5	818	c.633C>T	c.(631-633)gtC>gtT	p.V211V	BRD3_ENST00000371834.2_Silent_p.V211V|BRD3_ENST00000357885.2_Silent_p.V211V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	211						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGGACTGGGACCGACGTGA	0.687000			T	C15orf55	lethal midline carcinoma of young people								13	108					0	0	0.132662	0	0
RBBP6	5930	broad.mit.edu	37	16	24578597	24578597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:24578597C>T	ENST00000319715.4	+	15	2155	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P575S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		acttcctctccctccgggtgt	0.577000													25	177					0	0	0.099896	0	0
AGXT	189	broad.mit.edu	37	2	241808436	241808436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:241808436G>A	ENST00000307503.3	+	1	541	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	52					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CATGAGCAAGGATATGTACCA	0.642000													4	85					0	0	0.014758	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391953	117391953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:117391953C>T	ENST00000321322.6	-	6	1286	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E159K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	369	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E429*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCAGCGTCTCGTTGCTGAGC	0.642000													19	150					0	0	0.055883	0	0
CECR1	51816	broad.mit.edu	37	22	17690466	17690466	+	Silent	SNP	C	C	T	rs113192455		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:17690466C>T	ENST00000399839.1	-	2	372	c.102G>A	c.(100-102)cgG>cgA	p.R34R	CECR1_ENST00000399837.2_Silent_p.R34R|CECR1_ENST00000449907.2_5'UTR|CECR1_ENST00000262607.3_Silent_p.R34R			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	34	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACAGATGCGCCCGTGTTTCAT	0.552000													8	46					0	0	0.038147	0	0
TMEM5	10329	broad.mit.edu	37	12	64202701	64202701	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:64202701G>A	ENST00000537373.1	+	6	1329	c.381G>A	c.(379-381)aaG>aaA	p.K127K	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_Silent_p.K387K	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	387						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TCTTTATCAAGAACTGGAAGG	0.403000													6	44					0	0	0.021553	0	0
NFATC3	4775	broad.mit.edu	37	16	68225519	68225519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:68225519C>T	ENST00000349223.5	+	9	3171	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	NFATC3_ENST00000329524.4_Nonsense_Mutation_p.Q983*|NFATC3_ENST00000575270.1_Nonsense_Mutation_p.Q983*|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Nonsense_Mutation_p.Q983*	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	983					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAGTACGGGCCAGGGGGGTCT	0.502000													13	201					0	0	0.119110	0	0
GALNT14	79623	broad.mit.edu	37	2	31147071	31147071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:31147071C>T	ENST00000349752.5	-	13	1933	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.E397K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E399K|GALNT14_ENST00000406653.1_Missense_Mutation_p.E412K|GALNT14_ENST00000324589.5_Missense_Mutation_p.E437K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	432	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTTGAGATTCCAGGCACTTC	0.522000													12	115					0	0	0.093190	0	0
TAS2R5	54429	broad.mit.edu	37	7	141491019	141491019	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:141491019C>T	ENST00000247883.4	+	1	1003	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	286					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTCAGAAGATCCTGTGGAAGA	0.493000													14	112					0	0	0.132662	0	0
GRID1	2894	broad.mit.edu	37	10	87628917	87628917	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:87628917G>A	ENST00000327946.7	-	6	886	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	267						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGATCCAGGATCTCCGGGT	0.507000										Multiple Myeloma(13;0.14)			14	100					0	0	0.033300	0	0
FRYL	285527	broad.mit.edu	37	4	48503669	48503669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:48503669G>A	ENST00000358350.4	-	62	9167	c.8563C>T	c.(8563-8565)Caa>Taa	p.Q2855*	FRYL_ENST00000264319.7_Nonsense_Mutation_p.Q245*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q2855*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.Q2855*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.Q245*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2855					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTTACTTGGTTGATAAGT	0.294000													21	159					0	0	0.099896	0	0
ZNF658	26149	broad.mit.edu	37	9	40773139	40773139	+	Silent	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:40773139T>C	ENST00000602553.1	-	5	2430	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K	ZNF658_ENST00000377626.3_Silent_p.K712K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCATAGGGTTTCTCCCCCG	0.403000													66	387					0	0	0.139131	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342904	16342904	+	RNA	SNP	C	C	T	rs11540320		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:16342904C>T	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA	NR_027667.1																						GTCGCTGAAACCTCTACAACT	0.483000													38	162					0	0	0.117977	0	0
MYT1L	23040	broad.mit.edu	37	2	1906872	1906872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:1906872G>A	ENST00000399161.2	-	14	2759	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	MYT1L_ENST00000428368.2_Missense_Mutation_p.S669F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	671					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTTTGGGGGATATATCCCT	0.428000													6	80					0	0	0.029380	0	0
TSHR	7253	broad.mit.edu	37	14	81610190	81610190	+	Silent	SNP	C	C	T	rs146917060		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:81610190C>T	ENST00000541158.2	+	11	2110	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.I596I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	596					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTTCGTCATCGTCTGCTGCT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						32	200					0	0	0.080422	0	0
NEBL	10529	broad.mit.edu	37	10	21074778	21074778	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:21074778G>A	ENST00000377122.4	-	28	3339	c.2943C>T	c.(2941-2943)atC>atT	p.I981I	NEBL_ENST00000417816.2_Silent_p.I237I|NEBL_ENST00000377159.4_Silent_p.I203I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	981	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.I981I(1)		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						GCACGTTGACGATGTAGTCGC	0.493000													10	38					0	0	0.080935	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933652	31933652	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:31933652C>T	ENST00000375394.2	+	18	2177	c.2064C>T	c.(2062-2064)acC>acT	p.T688T	SKIV2L_ENST00000544581.1_Silent_p.T495T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	688	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATGGCTCCACCTTCCGGGACC	0.607000													10	64					0	0	0.080935	0	0
FAM83H	286077	broad.mit.edu	37	8	144808445	144808445	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:144808445G>A	ENST00000388913.3	-	5	3311	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1062					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGTCGGGCCGGGGCTCGGGG	0.647000													7	15					0	0	0.047766	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794311	7794311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:7794311C>T	ENST00000328853.5	-	9	891	c.823G>A	c.(823-825)Gac>Aac	p.D275N		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CACGGTGCGTCGTTCCACAGC	0.632000													7	50					0	0	0.029380	0	0
PENK	5179	broad.mit.edu	37	8	57353922	57353922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:57353922G>A	ENST00000314922.3	-	2	789	c.713C>T	c.(712-714)gCc>gTc	p.A238V	PENK_ENST00000451791.2_Missense_Mutation_p.A238V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	238					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGAGCCTCGGCAAAGCGCTT	0.478000													5	96					0	0	0.014758	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054126	67054126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:67054126G>A	ENST00000295568.4	+	3	788	c.657G>A	c.(655-657)atG>atA	p.M219I	KBTBD8_ENST00000417314.2_Missense_Mutation_p.M245I|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	245	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTCCTCTGATGGAAGATACCT	0.393000													7	87					0	0	0.029380	0	0
MYO3A	53904	broad.mit.edu	37	10	26490227	26490227	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:26490227A>G	ENST00000265944.5	+	33	4745	c.4579A>G	c.(4579-4581)Aaa>Gaa	p.K1527E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1527					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGACCAAGGAAAGACAGGTA	0.249000													3	16					0	0	0.009096	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164129	32164129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32164129C>T	ENST00000375023.3	-	29	5408	c.5270G>A	c.(5269-5271)gGa>gAa	p.G1757E	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1757					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTTATCGGCTCCGGCCTGGAG	0.607000													27	140					0	0	0.045705	0	0
ATP2B3	492	broad.mit.edu	37	X	152835130	152835130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:152835130C>T	ENST00000370186.1	+	20	3696	c.3370C>T	c.(3370-3372)Ctc>Ttc	p.L1124F	ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1124F|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1124F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1138F|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000349466.2_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	0	Calmodulin-binding subdomain B (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCGGTCCTCAGCCAGCT	0.522000													32	142					0	0	0.086207	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:21069510C>T	ENST00000261383.3	-	27	3820	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1274Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1274	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTGATTTCGAGGGACCTG	0.507000													4	37					0	0	0.009096	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465513	79465513	+	Silent	SNP	G	G	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:79465513G>C	ENST00000376718.3	-	3	333	c.210C>G	c.(208-210)acC>acG	p.T70T	PRUNE2_ENST00000376713.3_Silent_p.T70T|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	70					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTCGTCTCGGTGAAGTAGT	0.388000													19	180					0	0	0.055883	0	0
LATS1	9113	broad.mit.edu	37	6	150005367	150005367	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:150005367G>A	ENST00000543571.1	-	4	1405	c.858C>T	c.(856-858)tcC>tcT	p.S286S	LATS1_ENST00000392273.3_Silent_p.S286S|LATS1_ENST00000253339.5_Silent_p.S286S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	286					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GAGAGATTCGGGAGATTACGT	0.532000													6	121					0	0	0.021553	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349557	103349557	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:103349557C>T	ENST00000357421.4	-	2	564	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	128					transport	integral to membrane|mitochondrial inner membrane											GTGCCACGGCCTCCACCACGC	0.577000													24	69					0	0	0.116897	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117233	46117233	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr21:46117233C>T	ENST00000400365.3	+	1	147	c.117C>T	c.(115-117)ccC>ccT	p.P39P	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	39	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GCTGTGAGCCCCCCTGCTGCG	0.687000													19	116					0	0	0.083992	0	0
ACSM1	116285	broad.mit.edu	37	16	20634851	20634851	+	Missense_Mutation	SNP	A	A	G	rs142695037	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:20634851A>G	ENST00000219151.4	-	14	1854	c.644T>C	c.(643-645)aTt>aCt	p.I215T	ACSM1_ENST00000520010.1_Missense_Mutation_p.I564T|ACSM1_ENST00000307493.4_Missense_Mutation_p.I564T			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	564					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCCGTTCAATCTTGCCAGT	0.473000													3	99					0	0	0.115264	0	0
MYH14	79784	broad.mit.edu	37	19	50792717	50792717	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:50792717C>G	ENST00000440075.2	+	35	4824	c.4777C>G	c.(4777-4779)Cgg>Ggg	p.R1593G	MYH14_ENST00000601313.1_Missense_Mutation_p.R1593G|MYH14_ENST00000598205.1_Missense_Mutation_p.R1560G|MYH14_ENST00000596571.1_Missense_Mutation_p.R1552G|MYH14_ENST00000425460.1_Missense_Mutation_p.R1560G|MYH14_ENST00000376970.2_Missense_Mutation_p.R1585G|MYH14_ENST00000262269.8_Missense_Mutation_p.R1593G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1552					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACGAGCCTGCCGGGTAGCAGA	0.602000													6	22					0	0	0.029380	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890435	88890435	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:88890435C>A	ENST00000303236.3	-	5	1204	c.903G>T	c.(901-903)caG>caT	p.Q301H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q150H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	301					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGGCAGCTTCCTGTTCTTCCA	0.423000													7	100					1.12685e-05	1.15467e-05	0.047766	1	0
TLR1	7096	broad.mit.edu	37	4	38798510	38798510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:38798510G>A	ENST00000308979.2	-	4	2216	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TLR1_ENST00000502213.2_Missense_Mutation_p.S648F	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	648	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CACCCAGAAAGAATCGTGCCC	0.443000													14	96					0	0	0.132662	0	0
POLN	353497	broad.mit.edu	37	4	2181115	2181115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:2181115C>T	ENST00000511885.2	-	8	1452	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.D367N			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	367					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCTACTAAATCTTCAAAAGAG	0.358000								DNA polymerases (catalytic subunits)					5	57					0	0	0.021553	0	0
PTPRC	5788	broad.mit.edu	37	1	198691544	198691544	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:198691544G>A	ENST00000367376.2	+	15	1824		c.e15-1		PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000348564.6_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAAATTCAGGCCTATTTTC	0.229000													13	126					0	0	0.146539	0	0
DHX16	8449	broad.mit.edu	37	6	30640560	30640560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:30640560C>T	ENST00000376442.3	-	1	254	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	20					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTCGCTCAGCCCCAACACCGA	0.672000													6	45					0	0	0.038147	0	0
ENC1	8507	broad.mit.edu	37	5	73932233	73932233	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:73932233G>A	ENST00000302351.4	-	2	1208	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ENC1_ENST00000537006.1_Silent_p.S26S|ENC1_ENST00000510316.1_Intron	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	26					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCGTAGGAGGACTTGTGAA	0.502000													9	41					0	0	0.058154	0	0
MMP2	4313	broad.mit.edu	37	16	55523723	55523723	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:55523723C>T	ENST00000219070.4	+	7	1676	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MMP2_ENST00000543485.1_Silent_p.F313F|MMP2_ENST00000437642.2_Silent_p.F339F|MMP2_ENST00000570308.1_Silent_p.F313F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	389	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTGGGGCTTCTGCCCTGACC	0.572000													8	13					0	0	0.047766	0	0
MCM2	4171	broad.mit.edu	37	3	127325561	127325561	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:127325561C>T	ENST00000265056.7	+	6	1246	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	334					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.F334F(1)		ovary(3)|skin(2)|stomach(1)	6						AGTGCAATTTCGTCCTGGGTC	0.592000													15	112					0	0	0.043863	0	0
MYB	4602	broad.mit.edu	37	6	135507070	135507070	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:135507070A>C	ENST00000341911.5	+	2	252	c.53A>C	c.(52-54)gAc>gCc	p.D18A	MYB_ENST00000533624.1_Missense_Mutation_p.D18A|MYB_ENST00000528774.1_Missense_Mutation_p.D18A|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.D18A|MYB_ENST00000442647.2_Missense_Mutation_p.D18A|MYB_ENST00000534044.1_Missense_Mutation_p.D18A|MYB_ENST00000367814.4_Missense_Mutation_p.D18A|MYB_ENST00000316528.8_Missense_Mutation_p.D18A|MYB_ENST00000525369.1_Missense_Mutation_p.D18A|MYB_ENST00000527615.1_Missense_Mutation_p.D18A|MYB_ENST00000420123.2_Missense_Mutation_p.D18A	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	18					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGATGAGGACTTTGAGATG	0.448000			T	NFIB	adenoid cystic carcinoma								10	110					0	0	0.093190	0	0
MYH1	4619	broad.mit.edu	37	17	10411809	10411809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:10411809C>T	ENST00000226207.5	-	16	1862	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	590	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGTTGTAGTCCACGGTGCCA	0.512000													6	67					0	0	0.021553	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574511	140574511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140574511G>A	ENST00000239446.4	+	1	2570	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		796					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCTTTGGATTTAATAT	0.353000													6	30					0	0	0.038147	0	0
STOX1	219736	broad.mit.edu	37	10	70644563	70644563	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:70644563C>T	ENST00000298596.6	+	3	1094	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.F337F|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.F227F	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	337						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCTCAGTTCCCACCTGAAG	0.423000													12	79					0	0	0.132662	0	0
NAV2	89797	broad.mit.edu	37	11	19914094	19914094	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:19914094C>T	ENST00000396085.1	+	6	1246	c.885C>T	c.(883-885)tcC>tcT	p.S295S	NAV2_ENST00000540292.1_Silent_p.S249S|NAV2_ENST00000527559.2_Silent_p.S247S|NAV2_ENST00000349880.4_Silent_p.S295S|NAV2_ENST00000396087.3_Silent_p.S318S|NAV2_ENST00000360655.4_Silent_p.S231S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	318						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGATAAATCCAAACCAGTCA	0.542000													7	46					0	0	0.038147	0	0
COL7A1	1294	broad.mit.edu	37	3	48604435	48604435	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:48604435A>G	ENST00000328333.8	-	110	8238	c.8131T>C	c.(8131-8133)Ttc>Ctc	p.F2711L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F2679L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2711	Triple-helical region.				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)		GGGCCTGGGAAGCCCCCAATT	0.602000													6	23					0	0	0.047766	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668679	71668679	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:71668679G>A	ENST00000268485.3	+	3	1223	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	393						integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGCTAAAAGAGAAGCCAGCAG	0.483000													5	54					0	0	0.029380	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998438	46998438	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:46998438G>A	ENST00000599531.1	-	1	1317	c.285C>T	c.(283-285)gaC>gaT	p.D95D	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.R183R|PNMAL2_ENST00000377655.2_Silent_p.D95D	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	95										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTGCGCACGGTCCTTCCACA	0.677000													25	177					0	0	0.083992	0	0
DPP10	57628	broad.mit.edu	37	2	116283490	116283490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:116283490C>T	ENST00000410059.1	+	5	863	c.383C>T	c.(382-384)tCa>tTa	p.S128L	DPP10_ENST00000393147.2_Missense_Mutation_p.S132L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S121L|DPP10_ENST00000409163.1_Missense_Mutation_p.S78L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	128					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAAAGCATCAAGACATTCA	0.279000													4	23					0	0	0.009096	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349556	103349556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:103349556C>T	ENST00000357421.4	-	2	565	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	129					transport	integral to membrane|mitochondrial inner membrane											AGTGCCACGGCCTCCACCACG	0.577000													24	68					0	0	0.125774	0	0
CETP	1071	broad.mit.edu	37	16	56997015	56997015	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:56997015A>G	ENST00000200676.3	+	2	342	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	CETP_ENST00000566128.1_Missense_Mutation_p.Q6R|CETP_ENST00000379780.2_Missense_Mutation_p.Q71R|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	71					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTCCTTGGCCAAGTCAAGTAT	0.627000													5	60					0	0	0.029380	0	0
DNAH5	1767	broad.mit.edu	37	5	13708295	13708295	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:13708295G>A	ENST00000265104.4	-	76	13379	c.13275C>T	c.(13273-13275)agC>agT	p.S4425S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4425					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGATTTTCGCTCATGATGA	0.463000									Kartagener syndrome				25	209					0	0	0.108266	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620463	70620463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:70620463C>T	ENST00000310613.2	-	3	499	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACATTTTTCAATATCTCCA	0.333000													13	106					0	0	0.105934	0	0
FLNB	2317	broad.mit.edu	37	3	58064483	58064483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:58064483C>T	ENST00000357272.4	+	3	746	c.581C>T	c.(580-582)cCt>cTt	p.P194L	FLNB_ENST00000295956.4_Missense_Mutation_p.P194L|FLNB_ENST00000419752.2_Missense_Mutation_p.P25L|FLNB_ENST00000493452.1_Missense_Mutation_p.P25L|FLNB_ENST00000429972.2_Missense_Mutation_p.P194L|FLNB_ENST00000348383.5_Missense_Mutation_p.P194L|FLNB_ENST00000490882.1_Missense_Mutation_p.P194L|FLNB_ENST00000358537.3_Missense_Mutation_p.P194L			O75369	FLNB_HUMAN	filamin B, beta	194	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGCAGAAGCCTGTGGATAAT	0.532000													6	30					0	0	0.038147	0	0
WDR62	284403	broad.mit.edu	37	19	36594429	36594429	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:36594429C>T	ENST00000401500.2	+	30	3734	c.3699C>T	c.(3697-3699)tcC>tcT	p.S1233S	WDR62_ENST00000270301.7_Silent_p.S1228S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1228					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCAGCATCTCCCTCGGTGACA	0.667000													7	66					0	0	0.029380	0	0
NLRP11	204801	broad.mit.edu	37	19	56300216	56300216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:56300216G>A	ENST00000443188.1	-	11	3522	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	NLRP11_ENST00000592953.1_Missense_Mutation_p.L839F|NLRP11_ENST00000360133.3_Missense_Mutation_p.L884F|NLRP11_ENST00000589824.2_Missense_Mutation_p.L884F|NLRP11_ENST00000589093.1_Missense_Mutation_p.L938F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	938							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAGCTCTCAAGAAGTTTTGCA	0.378000													5	76					0	0	0.021553	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319312	83319312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:83319312C>T	ENST00000262752.2	-	22	2218	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M737I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	737					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCGCTTTTTCATGCTCCGTC	0.453000													4	21					0	0	0.009096	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584873	72584873	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:72584873C>T	ENST00000375352.1	-	2	236	c.156G>A	c.(154-156)cgG>cgA	p.R52R	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	52	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CTCCTTGACACCGCCACTTCA	0.468000													24	127					0	0	0.083992	0	0
VKORC1	79001	broad.mit.edu	37	16	31106776	31106776	+	Silent	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:31106776C>G	ENST00000498155.1	-	1	525	c.204G>C	c.(202-204)ctG>ctC	p.L68L				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)	TCAGGGGATCCAGCGAATACG	0.547000													3	21					0	0	0.009096	0	0
PCDH15	65217	broad.mit.edu	37	10	55943256	55943256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:55943256G>A	ENST00000373965.2	-	14	1953	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	PCDH15_ENST00000414778.1_Missense_Mutation_p.S518F|PCDH15_ENST00000395430.1_Missense_Mutation_p.S513F|PCDH15_ENST00000361849.3_Missense_Mutation_p.S513F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.S513F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S491F|PCDH15_ENST00000409834.1_Missense_Mutation_p.S124F|PCDH15_ENST00000395445.1_Missense_Mutation_p.S520F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S513F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S513F|PCDH15_ENST00000373955.1_Missense_Mutation_p.S513F|PCDH15_ENST00000373957.3_Missense_Mutation_p.S491F|PCDH15_ENST00000395432.2_Missense_Mutation_p.S476F|PCDH15_ENST00000320301.6_Missense_Mutation_p.S513F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	513	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACATCATAGGATATTTCAGG	0.378000										HNSCC(58;0.16)			14	116					0	0	0.132662	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216516	227216516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:227216516G>A	ENST00000366769.3	-	29	5460	c.4169C>T	c.(4168-4170)tCa>tTa	p.S1390L	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S1370L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S1403L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S1390L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S1309L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S1362L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S1425L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1403	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGCAATAAATGATAGTGTATG	0.408000													11	96					0	0	0.093190	0	0
PTPRF	5792	broad.mit.edu	37	1	44070930	44070930	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44070930C>G	ENST00000359947.4	+	18	3545	c.3205C>G	c.(3205-3207)Ccc>Gcc	p.P1069A	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1060A|PTPRF_ENST00000422171.2_Missense_Mutation_p.P417A|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1060A|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1069A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1069	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACCTGCAGCCCAACACAGA	0.622000													14	104					0	0	0.146539	0	0
GRIA4	2893	broad.mit.edu	37	11	105804641	105804641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:105804641G>A	ENST00000393127.2	+	14	2686	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GRIA4_ENST00000282499.5_Missense_Mutation_p.G747E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G747E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G747E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	747					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAAGTGGGAGGAAATCTGGAT	0.438000													11	72					0	0	0.093190	0	0
TMCC2	9911	broad.mit.edu	37	1	205238205	205238205	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:205238205T>G	ENST00000358024.3	+	3	1264	c.875T>G	c.(874-876)cTg>cGg	p.L292R	TMCC2_ENST00000330675.7_Missense_Mutation_p.L67R|TMCC2_ENST00000545499.1_Missense_Mutation_p.L214R|TMCC2_ENST00000329800.7_Missense_Mutation_p.L52R|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	292						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATTGACCACCTGCACCAGAAG	0.632000													3	34					0	0	0.115264	0	0
ANO5	203859	broad.mit.edu	37	11	22249077	22249077	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:22249077T>G	ENST00000324559.8	+	7	910	c.593T>G	c.(592-594)cTc>cGc	p.L198R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	198						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCAGGAGCTCTTCCTCATC	0.453000													12	93					0	0	0.093190	0	0
APOB	338	broad.mit.edu	37	2	21251284	21251284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:21251284G>A	ENST00000233242.1	-	13	1871	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S	APOB_ENST00000399256.4_Missense_Mutation_p.P582S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	582	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTCCCATGGTAGAATTTGG	0.413000													7	87					0	0	0.038147	0	0
KDM4A	9682	broad.mit.edu	37	1	44134855	44134855	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44134855C>T	ENST00000372396.3	+	10	1382	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	416					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGCTCTTCCCCAAGGAGGATC	0.582000													15	126					0	0	0.146539	0	0
PDE4C	5143	broad.mit.edu	37	19	18330170	18330170	+	Silent	SNP	A	A	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:18330170A>T	ENST00000355502.3	-	12	1711	c.840T>A	c.(838-840)gcT>gcA	p.A280A	AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.A280A|PDE4C_ENST00000262805.11_Silent_p.A248A|PDE4C_ENST00000539010.1_Silent_p.A49A|PDE4C_ENST00000594617.2_Silent_p.A280A|PDE4C_ENST00000447275.2_Silent_p.A174A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	280					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCTCCTCAGCGGTCACCT	0.652000													3	45					0	0	0.009096	0	0
DZANK1	55184	broad.mit.edu	37	20	18432572	18432572	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:18432572G>A	ENST00000357236.4	-	7	786	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	DZANK1_ENST00000377630.5_Intron|DZANK1_ENST00000262547.5_Intron|DZANK1_ENST00000487128.1_Intron|DZANK1_ENST00000329494.5_Intron			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	0						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						tggccaaacagaaaactttta	0.393000													8	57					0	0	0.093190	0	0
NRP1	8829	broad.mit.edu	37	10	33469204	33469204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:33469204G>A	ENST00000265371.4	-	18	3097	c.2572C>T	c.(2572-2574)Ctc>Ttc	p.L858F	NRP1_ENST00000395995.1_Missense_Mutation_p.L841F|NRP1_ENST00000374867.2_Missense_Mutation_p.L858F			O14786	NRP1_HUMAN	neuropilin 1	858					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATGGTGATGAGGATGGGGTCT	0.537000													13	124					0	0	0.099896	0	0
GPI	2821	broad.mit.edu	37	19	34859581	34859581	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:34859581C>T	ENST00000415930.3	+	5	663	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	GPI_ENST00000586425.1_Silent_p.L126L|GPI_ENST00000356487.5_Silent_p.L126L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	126					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CAACAAGGTTCTGGACAAGAT	0.577000													6	70					0	0	0.021553	0	0
PDE5A	8654	broad.mit.edu	37	4	120463730	120463730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:120463730G>A	ENST00000354960.3	-	10	1775	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.R444*|PDE5A_ENST00000394439.1_Nonsense_Mutation_p.R434*|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	486	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCGTCATTTCGGTTGAAAGGC	0.428000													5	68					0	0	0.014758	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031964	132031964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:132031964G>A	ENST00000314099.8	-	1	242	c.194C>T	c.(193-195)tCg>tTg	p.S65L	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	65						integral to membrane				endometrium(1)|lung(1)	2						ACTCCTAACCGATCTAAAACT	0.388000													7	44					0	0	0.038147	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:123777236G>A	ENST00000321355.2	+	1	128	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTTCTTAGGAATTTACACA	0.423000													21	89					0	0	0.069288	0	0
COL4A4	1286	broad.mit.edu	37	2	227920757	227920757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:227920757G>A	ENST00000396625.3	-	30	2827	c.2620C>T	c.(2620-2622)Ctc>Ttc	p.L874F	COL4A4_ENST00000329662.7_Missense_Mutation_p.L874F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	874	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CGTCCTGGGAGTCCGGGGAGG	0.632000													6	33					0	0	0.021553	0	0
PTPRF	5792	broad.mit.edu	37	1	44070931	44070931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44070931C>T	ENST00000359947.4	+	18	3546	c.3206C>T	c.(3205-3207)cCc>cTc	p.P1069L	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1060L|PTPRF_ENST00000422171.2_Missense_Mutation_p.P417L|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1060L|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1069L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1069	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACCTGCAGCCCAACACAGAG	0.627000													14	105					0	0	0.146539	0	0
NRXN3	9369	broad.mit.edu	37	14	80327989	80327989	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:80327989C>T	ENST00000557594.1	+	6	2549	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000428277.2_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	532					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCCCATGTTCCGTAATGTGC	0.567000													3	30					0	0	0.014758	0	0
INADL	10207	broad.mit.edu	37	1	62330219	62330219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:62330219G>A	ENST00000371158.2	+	20	2863	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	INADL_ENST00000316485.6_Missense_Mutation_p.E917K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	917					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCATGATAATGAACCATCCGA	0.488000													14	122					0	0	0.038395	0	0
PIGG	54872	broad.mit.edu	37	4	517460	517460	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:517460C>T	ENST00000453061.2	+	9	1933	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	PIGG_ENST00000383028.4_Silent_p.L476L|PIGG_ENST00000310340.5_Silent_p.L601L|PIGG_ENST00000504346.1_Silent_p.L520L|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	609					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTGTGGCCTCTGTGTGGAAC	0.582000													7	78					0	0	0.047766	0	0
MUC16	94025	broad.mit.edu	37	19	9056625	9056625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:9056625G>A	ENST00000397910.4	-	3	31024	c.30821C>T	c.(30820-30822)tCc>tTc	p.S10274F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10276	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGCCAGTGGAAATAGTCTC	0.473000													10	65					0	0	0.058154	0	0
AFP	174	broad.mit.edu	37	4	74313303	74313303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:74313303C>T	ENST00000395792.2	+	8	1068	c.968C>T	c.(967-969)cCt>cTt	p.P323L	AFP_ENST00000226359.2_Missense_Mutation_p.P323L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	323	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATGAAAAACCTGAAGGTCTA	0.363000									Alpha-Fetoprotein, Hereditary Persistence of				3	43					0	0	0.009096	0	0
CDH12	1010	broad.mit.edu	37	5	21975370	21975370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:21975370C>T	ENST00000382254.1	-	6	1442	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CDH12_ENST00000504376.2_Missense_Mutation_p.R119K|CDH12_ENST00000522262.1_Missense_Mutation_p.R119K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	119	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCTCTTCTCTATCTAGGCT	0.478000										HNSCC(59;0.17)			11	62					0	0	0.093190	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342905	16342905	+	RNA	SNP	C	C	T	rs11540320		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:16342905C>T	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA	NR_027667.1																						TCGCTGAAACCTCTACAACTT	0.483000													39	163					0	0	0.124865	0	0
CPN2	1370	broad.mit.edu	37	3	194061987	194061987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:194061987G>A	ENST00000323830.3	-	2	1534	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	CPN2_ENST00000429275.1_Missense_Mutation_p.T482I	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	482					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GTTGCTGTAGGTGCACTGGCT	0.672000													13	81					0	0	0.105934	0	0
HDAC2	3066	broad.mit.edu	37	6	114274470	114274470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:114274470C>T	ENST00000519065.1	-	6	986	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	HDAC2_ENST00000398283.2_Missense_Mutation_p.E298K|HDAC2_ENST00000368632.2_Missense_Mutation_p.E174K|HDAC2_ENST00000519108.1_Missense_Mutation_p.E174K			Q92769	HDAC2_HUMAN	histone deacetylase 2	204	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|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)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGAAAGTATTCCCCATATTTA	0.348000													14	187					0	0	0.043863	0	0
GAB4	128954	broad.mit.edu	37	22	17445656	17445656	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:17445656C>T	ENST00000400588.1	-	8	1583	c.1476_splice	c.e8+1	p.P492_splice		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	492										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGGACTCACCGGGAAAAGAT	0.572000													5	40					0	0	0.029380	0	0
CCDC121	79635	broad.mit.edu	37	2	27849834	27849834	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:27849834T>G	ENST00000324364.3	-	2	1013	c.833A>C	c.(832-834)aAg>aCg	p.K278T	CCDC121_ENST00000394775.3_Missense_Mutation_p.K440T|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	278										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TAGAAGTTACTTTGGATTAAT	0.398000													14	135					0	0	0.119110	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212533979	212533979	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:212533979G>C	ENST00000261461.2	+	13	1902		c.e13-1		PPP2R5A_ENST00000537030.3_Splice_Site	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha						negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTTATCTACAGAGAGAAAAAG	0.338000													4	42					0	0	0.021553	0	0
BRD3	8019	broad.mit.edu	37	9	136913572	136913572	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:136913572T>C	ENST00000303407.7	-	6	904	c.719A>G	c.(718-720)aAg>aGg	p.K240R	BRD3_ENST00000371834.2_Missense_Mutation_p.K240R|BRD3_ENST00000357885.2_Missense_Mutation_p.K240R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	240						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTCACGCCCTTTTTCTGCGA	0.632000			T	C15orf55	lethal midline carcinoma of young people								3	122					0	0	0.115264	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343086	130343086	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:130343086C>T	ENST00000299164.2	+	8	2223	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	741	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACGGGCATTTCGTGGTGTCGG	0.637000													8	93					0	0	0.069234	0	0
LEPR	3953	broad.mit.edu	37	1	66075721	66075721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:66075721G>A	ENST00000349533.6	+	13	2029	c.1844G>A	c.(1843-1845)aGg>aAg	p.R615K	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.R615K|LEPR_ENST00000344610.8_Missense_Mutation_p.R615K|LEPR_ENST00000371060.3_Missense_Mutation_p.R615K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R615K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	615	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CGCTGTAAGAGGCTAGATGGA	0.403000													18	177					0	0	0.043863	0	0
KDM4A	9682	broad.mit.edu	37	1	44134854	44134854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44134854C>T	ENST00000372396.3	+	10	1381	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	416					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAGCTCTTCCCCAAGGAGGAT	0.577000													15	126					0	0	0.132662	0	0
MFSD5	84975	broad.mit.edu	37	12	53647064	53647064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:53647064G>A	ENST00000534842.1	+	2	913	c.766G>A	c.(766-768)Gag>Aag	p.E256K	MFSD5_ENST00000329548.4_Missense_Mutation_p.E149K	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	149					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTCAGCCTTCGAGGCCTGGTA	0.557000													45	245					0	0	0.139131	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140588661C>T	ENST00000239450.2	+	1	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		61	Cadherin 1.				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)			GAGCTGTCTTCGCGGGGGGCT	0.507000													8	115					0	0	0.069234	0	0
MISP	126353	broad.mit.edu	37	19	758344	758344	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:758344C>T	ENST00000215582.6	+	2	1501	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCACGATGTCCCCGAGGCATC	0.612000													12	65					0	0	0.119110	0	0
GPR155	151556	broad.mit.edu	37	2	175346399	175346399	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:175346399A>C	ENST00000392552.2	-	2	524	c.286T>G	c.(286-288)Tcc>Gcc	p.S96A	GPR155_ENST00000295500.4_Missense_Mutation_p.S96A|GPR155_ENST00000392551.2_Missense_Mutation_p.S96A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	96					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCCACATTGGAAAAATTAAGT	0.358000													7	117					0	0	0.080935	0	0
MYT1L	23040	broad.mit.edu	37	2	1906873	1906873	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:1906873A>T	ENST00000399161.2	-	14	2758	c.2011T>A	c.(2011-2013)Tcc>Acc	p.S671T	MYT1L_ENST00000428368.2_Missense_Mutation_p.S669T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	671					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTTTGGGGGATATATCCCTG	0.433000													6	79					0	0	0.021553	0	0
USP20	10868	broad.mit.edu	37	9	132630714	132630714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:132630714C>T	ENST00000315480.4	+	11	1279	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	USP20_ENST00000372429.3_Missense_Mutation_p.P374L|USP20_ENST00000358355.1_Missense_Mutation_p.P374L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	374					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TCCTCCAGCCCCTGCCGGACG	0.692000													5	31					0	0	0.014758	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640069	9640069	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:9640069C>T	ENST00000302692.6	+	6	750	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	180					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTTACCAGACCGAAGGCATTC	0.418000													6	33					0	0	0.021553	0	0
SHC4	399694	broad.mit.edu	37	15	49118324	49118324	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:49118324C>T	ENST00000332408.4	-	12	2166		c.e12-1		SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGGTCCTCACCTTGAAAAAGA	0.358000													15	54					0	0	0.146539	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103059271	103059271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:103059271G>A	ENST00000375735.2	+	44	7330	c.7186G>A	c.(7186-7188)Ggt>Agt	p.G2396S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2396S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2396	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAATGGGTTGGTCTAGAAAA	0.318000													5	74					0	0	0.029380	0	0
LATS2	26524	broad.mit.edu	37	13	21562052	21562052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:21562052G>A	ENST00000382592.4	-	4	2272	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	LATS2_ENST00000542899.1_Missense_Mutation_p.R623W	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	623					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGCAGCCTCCGGTTAACCTTC	0.478000													23	128					0	0	0.091800	0	0
SLC34A1	6569	broad.mit.edu	37	5	176821167	176821167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:176821167C>T	ENST00000324417.5	+	10	1236	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	SLC34A1_ENST00000513614.1_Intron	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	382					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAAGTGGCCAAGGTCATC	0.587000													33	211					0	0	0.050027	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507125	95507125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:95507125G>A	ENST00000297591.5	-	20	4679	c.4604C>T	c.(4603-4605)cCa>cTa	p.P1535L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1535					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGCCTGAAATGGAGTGAACCA	0.323000													35	258					0	0	0.098360	0	0
PRG4	10216	broad.mit.edu	37	1	186277995	186277995	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:186277995G>A	ENST00000445192.2	+	7	3189	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	PRG4_ENST00000367485.4_Silent_p.T955T|PRG4_ENST00000367486.3_Silent_p.T1005T|PRG4_ENST00000367484.3_Silent_p.T577T|PRG4_ENST00000367483.4_Silent_p.T1007T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1048					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T1048T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACCAAAGACGACACCAACTC	0.453000													15	71					0	0	0.132662	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629306	9629306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:9629306C>T	ENST00000382492.2	-	1	1157	c.839G>A	c.(838-840)gGa>gAa	p.G280E	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	280					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TTTAGGATTTCCTAAAATTAA	0.373000													16	69					0	0	0.049695	0	0
MAD1L1	8379	broad.mit.edu	37	7	2262315	2262315	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:2262315C>T	ENST00000406869.1	-	5	923	c.366G>A	c.(364-366)gaG>gaA	p.E122E	MAD1L1_ENST00000265854.7_Silent_p.E122E|MAD1L1_ENST00000402746.1_5'UTR|MAD1L1_ENST00000399654.2_Silent_p.E122E			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	122					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTGCATCTTCTCCTCCGCCC	0.622000													6	43					0	0	0.021553	0	0
BIRC6	57448	broad.mit.edu	37	2	32740645	32740645	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:32740645G>T	ENST00000421745.2	+	55	11291	c.11157G>T	c.(11155-11157)ttG>ttT	p.L3719F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3719					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTTTTATTGTGTCACTCTG	0.423000													8	65					1.06961e-07	1.10146e-07	0.038147	1	0
HS3ST1	9957	broad.mit.edu	37	4	11401324	11401324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:11401324C>T	ENST00000002596.5	-	2	1480	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	102						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCTGAGGTACCAGCCCAAGC	0.622000													12	111					0	0	0.146539	0	0
AP5Z1	9907	broad.mit.edu	37	7	4815384	4815384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:4815384C>T	ENST00000348624.4	+	1	132	c.38C>T	c.(37-39)gCc>gTc	p.A13V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.A13V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	13					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CTCCACCAGGCCAGGTACGGG	0.692000													4	18					0	0	0.014758	0	0
TBPL2	387332	broad.mit.edu	37	14	55903709	55903709	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:55903709G>C	ENST00000247219.5	-	2	248	c.178C>G	c.(178-180)Ctg>Gtg	p.L60V		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	60					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGGCTGAACAGGGGAGACCTG	0.453000													17	104					0	0	0.091800	0	0
LIPF	8513	broad.mit.edu	37	10	90431601	90431601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:90431601C>T	ENST00000394375.3	+	7	691	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LIPF_ENST00000238983.4_Missense_Mutation_p.S183F|LIPF_ENST00000355843.2_Missense_Mutation_p.S150F	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	183					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATTGCCTTTTCCACCAATCCC	0.358000													28	148					0	0	0.064281	0	0
MDM1	56890	broad.mit.edu	37	12	68717015	68717015	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:68717015G>A	ENST00000303145.7	-	5	725	c.639C>T	c.(637-639)ttC>ttT	p.F213F	MDM1_ENST00000411698.2_Silent_p.F168F|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	213						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTTATTGTGGAAAACCTTAA	0.303000													7	72					0	0	0.047766	0	0
PLCG1	5335	broad.mit.edu	37	20	39792068	39792068	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:39792068C>T	ENST00000373272.2	+	9	1245	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PLCG1_ENST00000244007.3_Silent_p.F280F|PLCG1_ENST00000373271.1_Silent_p.F280F	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	280					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGCTCAGCTTCCTCCGAGACC	0.557000													4	53					0	0	0.038147	0	0
POU2F1	5451	broad.mit.edu	37	1	167343473	167343473	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:167343473C>T	ENST00000367862.5	+	6	733	c.498C>T	c.(496-498)tcC>tcT	p.S166S	POU2F1_ENST00000541643.3_Silent_p.S154S|POU2F1_ENST00000367866.2_Silent_p.S177S|POU2F1_ENST00000452019.1_Silent_p.S154S|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Silent_p.S154S|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	154					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCACCATCTCCGCCTCTGCTG	0.622000													4	22					0	0	0.021553	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442597	89442597	+	RNA	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:89442597C>T	ENST00000492167.1	-	0	46																											TCCATGGTTCCCTCTGGGTCC	0.572000													4	84					0	0	0.047766	0	0
HMCN1	83872	broad.mit.edu	37	1	185964144	185964144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:185964144G>A	ENST00000271588.4	+	24	3932	c.3703G>A	c.(3703-3705)Gat>Aat	p.D1235N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1235N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1235	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACGCCCTCAGATGCTGGCAT	0.453000													15	102					0	0	0.146539	0	0
SFI1	9814	broad.mit.edu	37	22	32009698	32009698	+	Silent	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:32009698G>A	ENST00000432498.1	+	26	3153	c.2760G>A	c.(2758-2760)agG>agA	p.R920R	SFI1_ENST00000443011.1_Silent_p.R798R|SFI1_ENST00000400289.1_Silent_p.R869R|SFI1_ENST00000414585.1_Silent_p.R798R|SFI1_ENST00000400288.2_Silent_p.R951R|SFI1_ENST00000540643.1_Silent_p.R896R|SFI1_ENST00000443326.1_Silent_p.R869R	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	951					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CACCCAGCAGGAAAGTGACGT	0.652000											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	18					0	0	0.038147	0	0
ACE	1636	broad.mit.edu	37	17	61557804	61557804	+	Silent	SNP	C	C	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:61557804C>T	ENST00000290866.4	+	5	786	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.L254L|ACE_ENST00000538928.1_Silent_p.L254L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	254	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACCTGAACCTCCATGCCTTCG	0.607000													13	107					0	0	0.132662	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734924	176734924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:176734924G>A	ENST00000367662.3	+	15	5438	c.4274G>A	c.(4273-4275)aGg>aAg	p.R1425K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1425	Sushi 1.				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						ACTTGTCAAAGGGGATTTGCC	0.522000													12	88					0	0	0.105934	0	0
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													8	348	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860299	142860299	+	RNA	DEL	T	T	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:142860299delT	ENST00000447311.1	-	0	364					NR_027312.1																						taggccagtatttttttttta	0.473													2	4	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													3	5	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692971	89692972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:89692971_89692972insA	ENST00000371953.3	+	5	1812_1813	c.455_456insA	c.(454-456)cgafs	p.R152fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	152	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L152P(2)|p.L152R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAGAGGCCCTAGATTTCTATG	0.381		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			8	78	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	GCA	-	rs72509739		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:9113009_9113011delGCA	ENST00000457346.2	-	1	139_141	c.65_67delTGC	c.(64-69)ccg>c	p.LP22del	SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	22						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788													4	2	---	---	---	---					
CTD-3074O7.11	0	broad.mit.edu	37	11	66299205	66299209	+	Frame_Shift_Del	DEL	ATCAT	ATCAT	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:66299205_66299209delATCAT	ENST00000419755.3	+	16	1876_1880	c.1798_1802delATCAT	c.(1798-1803)cfs	p.II600fs	BBS1_ENST00000455748.2_Frame_Shift_Del_p.II466fs|BBS1_ENST00000318312.7_Frame_Shift_Del_p.II563fs|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Frame_Shift_Del_p.II434fs																							CATCTCAGACATCATCAAGGTAGGC	0.561													11	138	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226895	88226897	+	RNA	DEL	TGG	TGG	-	rs62047004		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:88226895_88226897delTGG	ENST00000568587.1	-	0	91																											gtggtggagatggtggtggtggg	0.537													3	6	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													7	349	---	---	---	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													7	118	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				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						GCTGGGTGGTCTGCTGCTGCTGC	0.606													7	144	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctg>c	p.LV6del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	6					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													2	4	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													7	110	---	---	---	---