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
CYP11B2	1585	broad.mit.edu	37	8	143993986	143993986	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:143993986C>T	ENST00000323110.2	-	8	1360	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	453					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)	TGCCAGGCGCCGCCCGAGGCA	0.682000									Familial Hyperaldosteronism type I				18	46					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247979006	247979006	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:247979006T>G	ENST00000357627.1	-	1	25	c.26A>C	c.(25-27)gAa>gCa	p.E9A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGGATAAATTCAGTCACGAT	0.348000													3	32					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581437	21581437	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:21581437C>A	ENST00000425654.2	+	12	1865	c.1385C>A	c.(1384-1386)aCa>aAa	p.T462K	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T443K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T492K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.T492K|CNKSR2_ENST00000485012.1_3'UTR	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	492	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAAAGGACACAGGGAAGAAG	0.353000													12	12					3.07112e-06	3.24741e-06	1	1	0
CENPE	1062	broad.mit.edu	37	4	104065769	104065769	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:104065769C>T	ENST00000265148.3	-	33	4953	c.4864G>A	c.(4864-4866)Gaa>Aaa	p.E1622K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1597K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1622					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTGAGATTCTTTCATCTGA	0.313000													5	35					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8110660	8110660	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:8110660C>G	ENST00000316199.6	-	5	312	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	AURKB_ENST00000534871.1_Missense_Mutation_p.E37Q|AURKB_ENST00000578549.1_Missense_Mutation_p.E78Q|AURKB_ENST00000535053.1_Missense_Mutation_p.E79Q|AURKB_ENST00000585124.1_Missense_Mutation_p.E78Q	NM_001284526.1	NP_001271455.1	Q96GD4	AURKB_HUMAN	aurora kinase B	78	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CGCCCAATCTCAAAGTCATCA	0.488000													14	30					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022301	120022301	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:120022301A>T	ENST00000379551.2	+	3	1100	c.743A>T	c.(742-744)cAc>cTc	p.H248L	PRR16_ENST00000446965.1_Missense_Mutation_p.H201L|PRR16_ENST00000407149.2_Missense_Mutation_p.H271L|PRR16_ENST00000505123.1_Missense_Mutation_p.H201L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	271	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAATAAGCCACAGTAACAGC	0.552000													7	26					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246775	164246775	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:164246775G>C	ENST00000296533.2	-	3	1366	c.835C>G	c.(835-837)Ctt>Gtt	p.L279V	NPY1R_ENST00000509586.1_Missense_Mutation_p.L36V	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	279					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGATGGTAAGAGGGAGCCAG	0.433000													16	46					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778032	43778032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:43778032C>T	ENST00000372476.3	+	12	1766	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	TIE1_ENST00000433781.2_Nonsense_Mutation_p.R208*	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	563	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACCGGCTGCGAGTGAGCTG	0.662000													19	36					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118983038	118983038	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:118983038G>A	ENST00000336702.3	+	8	1379	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L	C2CD2L_ENST00000528586.1_Splice_Site_p.L88L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	340						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TGTCCCACAGGGATCTGGGCC	0.587000													3	7					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038271	34038271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:34038271C>A	ENST00000373381.4	-	50	7773	c.7597G>T	c.(7597-7599)Gag>Tag	p.E2533*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2535	Sushi 15.					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)				TTGGGGGCCTCAGGAAGCCCA	0.488000													11	28					7.03913e-09	7.5806e-09	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25263120	25263120	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr22:25263120C>A	ENST00000400358.4	+	10	1044	c.987C>A	c.(985-987)caC>caA	p.H329Q	SGSM1_ENST00000400359.4_Missense_Mutation_p.H329Q	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	329	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCACTGCCACCAGCAAGGTA	0.572000													7	34					0.0293803	0.0299799	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96702006	96702006	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:96702006C>T	ENST00000260682.6	+	3	401	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	130					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.T130M(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCCCTCATGACGCTGCGGAAT	0.507000													41	51					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011360	50011360	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:50011360C>T	ENST00000322246.4	-	2	269	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	90					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TATTTGGGTCCGTAGGGTCAC	0.413000													15	40					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897483	5897483	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:5897483C>T	ENST00000378961.4	+	3	312	c.108C>T	c.(106-108)tgC>tgT	p.C36C	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	36						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGACTCGCTGCATCATTGAGG	0.557000													13	45					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560006	44560006	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr18:44560006G>A	ENST00000332567.4	-	1	1982	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	544	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGTCGCTGAGGGCGTCCGGA	0.602000													11	40					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105175019	105175019	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:105175019C>G	ENST00000392634.4	+	10	2011	c.1899C>G	c.(1897-1899)ctC>ctG	p.L633L	INF2_ENST00000330634.7_Silent_p.L633L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	633	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCACTTTCCTCGATGCCAAGA	0.617000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	89					0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46950614	46950614	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:46950614G>C	ENST00000440783.2	+	7	1260	c.595G>C	c.(595-597)Gat>Cat	p.D199H	GPT2_ENST00000340124.4_Missense_Mutation_p.D299H	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	299					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTCCTGGCTGATGAGGTAAG	0.498000													49	119					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			22	31					3.6726e-16	4.06776e-16	1	1	0
CD1D	912	broad.mit.edu	37	1	158152903	158152903	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:158152903G>A	ENST00000368171.3	+	5	1342	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	281	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTGTCGGGTGAAGCACAGCA	0.602000													9	57					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1471053	1471053	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:1471053T>G	ENST00000308219.9	+	13	1660	c.1274T>G	c.(1273-1275)cTc>cGc	p.L425R	BRSK2_ENST00000382179.1_Missense_Mutation_p.L471R|BRSK2_ENST00000531197.1_Missense_Mutation_p.L425R|BRSK2_ENST00000528841.1_Missense_Mutation_p.L425R|BRSK2_ENST00000544817.1_Missense_Mutation_p.L120R|BRSK2_ENST00000528710.1_Missense_Mutation_p.L365R|BRSK2_ENST00000526678.1_Missense_Mutation_p.L447R|BRSK2_ENST00000308230.5_Missense_Mutation_p.L447R	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	425	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACCAGCCCACTCAGCAGCCCC	0.697000													12	41					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230907841	230907841	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:230907841G>C	ENST00000354537.1	+	7	953	c.871G>C	c.(871-873)Gac>Cac	p.D291H	CAPN9_ENST00000271971.2_Missense_Mutation_p.D291H|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.D228H	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	291	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTCGTGGAGCGACAGGTCAGT	0.587000													12	45					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113812420	113812420	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:113812420C>T	ENST00000297405.5	-	13	2187	c.1943G>A	c.(1942-1944)gGa>gAa	p.G648E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G648E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G544E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G608E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	648	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAACAGATCCAACACTTTC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	37					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42704594	42704594	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:42704594C>T	ENST00000457842.3	+	4	1993	c.584C>T	c.(583-585)tCa>tTa	p.S195L	ZBTB47_ENST00000505904.1_Missense_Mutation_p.S117L|ZBTB47_ENST00000232974.6_Missense_Mutation_p.S571L	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CTGCAGCACTCAGGGGAGAAG	0.622000													17	44					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21487891	21487891	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:21487891G>C	ENST00000556147.1	-	10	1563	c.623C>G	c.(622-624)tCt>tGt	p.S208C	NDRG2_ENST00000397851.2_Missense_Mutation_p.S208C|NDRG2_ENST00000397855.3_Missense_Mutation_p.S165C|NDRG2_ENST00000397856.3_Missense_Mutation_p.S194C|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298687.5_Missense_Mutation_p.S208C|NDRG2_ENST00000397847.2_Missense_Mutation_p.S208C|NDRG2_ENST00000554143.1_Missense_Mutation_p.S194C|NDRG2_ENST00000554104.1_Missense_Mutation_p.S121C|NDRG2_ENST00000360463.3_Missense_Mutation_p.S194C|NDRG2_ENST00000350792.3_Missense_Mutation_p.S194C|NDRG2_ENST00000397844.2_Missense_Mutation_p.S194C|NDRG2_ENST00000397853.3_Missense_Mutation_p.S208C|NDRG2_ENST00000403829.3_Missense_Mutation_p.S204C|NDRG2_ENST00000298684.5_Missense_Mutation_p.S165C|NDRG2_ENST00000397858.1_Missense_Mutation_p.S208C|NDRG2_ENST00000553503.1_Missense_Mutation_p.S194C|NDRG2_ENST00000555158.1_Missense_Mutation_p.S194C			Q9UN36	NDRG2_HUMAN	NDRG family member 2	208					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAATTTCCAGAGAGCTCTTC	0.403000													13	30					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242756193	242756193	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:242756193C>T	ENST00000391969.2	+	4	1017	c.306C>T	c.(304-306)ttC>ttT	p.F102F	NEU4_ENST00000404257.1_Silent_p.F114F|NEU4_ENST00000325935.6_Silent_p.F115F|NEU4_ENST00000407683.1_Silent_p.F102F|NEU4_ENST00000405370.1_Silent_p.F102F	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	102						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCCTCTTCTTCATCGCGGTGC	0.697000													4	13					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987165	61987165	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr13:61987165G>A	ENST00000409186.1	-	5	3172	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	PCDH20_ENST00000409204.4_Missense_Mutation_p.T356I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAAGAATAAGTAATTTGAGC	0.413000													21	41					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	34007970	34007970	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:34007970G>A	ENST00000335606.6	-	1	243	c.155C>T	c.(154-156)tCg>tTg	p.S52L	AMACR_ENST00000382072.2_Missense_Mutation_p.S52L|AMACR_ENST00000426255.2_Missense_Mutation_p.S52L|AMACR_ENST00000441713.2_Missense_Mutation_p.S52L|AMACR_ENST00000502637.1_Missense_Mutation_p.S52L|AMACR_ENST00000382068.3_Missense_Mutation_p.S52L|AMACR_ENST00000382085.3_Missense_Mutation_p.S52L|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.S52L	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	52			S -> P (in AMACRD and CBAS4; inactive enzyme).		bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CAGCACTAGCGAGCGCTTGCC	0.711000													3	5					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101484135	101484135	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:101484135C>G	ENST00000341893.3	+	11	3090	c.2338C>G	c.(2338-2340)Caa>Gaa	p.Q780E	CEP97_ENST00000494050.1_Missense_Mutation_p.Q721E|CEP97_ENST00000327230.4_Missense_Mutation_p.Q806E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	780						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AACTTCAGTTCAACAGCTGGA	0.388000													26	58					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59750746	59750746	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:59750746C>T	ENST00000361421.1	-	5	1038	c.818G>A	c.(817-819)cGt>cAt	p.R273H		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	273						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGAGTATCACGAAAGAATAA	0.468000													26	81					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067687	16067687	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:16067687G>T	ENST00000332432.8	-	4	1301	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	368						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TAGCCACACTGAAACCTTGGT	0.498000													37	73					6.29468e-14	6.88481e-14	1	1	0
SLC2A5	6518	broad.mit.edu	37	1	9098069	9098069	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:9098069G>A	ENST00000377424.4	-	11	1368	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	SLC2A5_ENST00000535586.1_Silent_p.L282L|SLC2A5_ENST00000536305.1_Silent_p.L338L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	397					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGATGAGCAGCGCGGGTATG	0.632000													4	21					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063720	170063720	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:170063720C>T	ENST00000263816.3	-	39	6795	c.6510G>A	c.(6508-6510)ctG>ctA	p.L2170L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2170					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.L2170L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAACTTCTATCAGTGTTTCAG	0.398000													14	27					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938789	178938789	+	Silent	SNP	T	T	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:178938789T>C	ENST00000263967.3	+	14	2188	c.2031T>C	c.(2029-2031)aaT>aaC	p.N677N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	677	PI3K helical.				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)			AGATGCACAATAAAACAGTTA	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	23					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938778	178938778	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:178938778G>C	ENST00000263967.3	+	14	2177	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	674	PI3K helical.				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)			TTTTAGATCTGAGATGCACAA	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			3	20					0	0	1	0	0
TMEM257	9142	broad.mit.edu	37	X	144909203	144909203	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:144909203C>T	ENST00000408967.2	+	1	276	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_004709.2	NP_004700.1			transmembrane protein 257																		TGAATGTATTCCAGACTATTT	0.244000													8	8					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520651	131520651	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:131520651G>C	ENST00000423981.1	+	2	1116	c.1006G>C	c.(1006-1008)Gac>Cac	p.D336H	AMER3_ENST00000321420.4_Missense_Mutation_p.D336H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCAGGGGACAGACAGGGACCA	0.657000													16	28					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28819542	28819542	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:28819542G>C	ENST00000373839.3	+	13	2293	c.2032G>C	c.(2032-2034)Gaa>Caa	p.E678Q	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.E688Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	678							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CATAAGAAAAGAATTAAATGA	0.388000													31	89					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110699	72110699	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:72110699G>A	ENST00000540303.2	+	5	798	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.E293K|HPR_ENST00000356967.5_Missense_Mutation_p.E256K	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	256	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AACGCATTATGAAGGCAGCAC	0.502000													18	49					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36120515	36120515	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:36120515G>C	ENST00000262633.4	+	2	327	c.222G>C	c.(220-222)gcG>gcC	p.A74A	RBM42_ENST00000586618.1_Silent_p.A74A|RBM42_ENST00000592202.1_Silent_p.A74A|RBM42_ENST00000589871.1_Silent_p.A74A|RBM42_ENST00000360475.4_Silent_p.A74A|RBM42_ENST00000589559.1_Silent_p.A74A|RBM42_ENST00000588161.1_Silent_p.A74A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	74						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGTAGAAGCGATGCAGGTCC	0.587000													17	48					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128707492	128707492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:128707492C>T	ENST00000357702.5	-	18	2957	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	SAP130_ENST00000259235.3_Nonsense_Mutation_p.W907*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.W915*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	907	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAGCAGCTTTCCAGGGGTTCC	0.448000													29	48					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220091616	220091616	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:220091616G>T	ENST00000409618.1	-	5	626	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	ATG9A_ENST00000361242.4_Missense_Mutation_p.L63I|ATG9A_ENST00000396761.2_Missense_Mutation_p.L63I|ATG9A_ENST00000488833.1_5'UTR|ATG9A_ENST00000409422.1_Missense_Mutation_p.L2I			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	63					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCCGATGAGCATACATGTG	0.403000													8	44					0.010729	0.0110122	1	1	0
MOCS3	27304	broad.mit.edu	37	20	49575810	49575810	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:49575810C>T	ENST00000244051.1	+	1	448	c.431C>T	c.(430-432)tCg>tTg	p.S144L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	144					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.S144L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GCCGCCGCCTCGCTGCGCCGC	0.637000													12	41					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58469336	58469336	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:58469336G>C	ENST00000300896.4	-	0	159				USP32_ENST00000393003.3_5'UTR	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32						protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTCGGAGCCTGATCTCGCCCC	0.697000													11	24					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73040809	73040809	+	RNA	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:73040809G>A	ENST00000604411.1	+	0	28770				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAAAGCAGATGATGATAAAAT	0.343000													13	19					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905563	144905563	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:144905563G>C	ENST00000370490.1	+	1	5875	c.1620G>C	c.(1618-1620)ctG>ctC	p.L540L	SLITRK2_ENST00000428560.2_Silent_p.L540L|SLITRK2_ENST00000413937.2_Silent_p.L540L|SLITRK2_ENST00000447897.2_Silent_p.L540L|SLITRK2_ENST00000434188.2_Silent_p.L540L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	540	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGGGCTGAAAGACTGGA	0.512000													19	16					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852870	117852870	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:117852870C>T	ENST00000350763.4	-	2	839	c.428G>A	c.(427-429)gGa>gAa	p.G143E	TNC_ENST00000423613.2_Missense_Mutation_p.G143E|TNC_ENST00000542877.1_Missense_Mutation_p.G143E|TNC_ENST00000537320.1_Missense_Mutation_p.G143E|TNC_ENST00000341037.4_Missense_Mutation_p.G143E|TNC_ENST00000535648.1_Missense_Mutation_p.G143E|TNC_ENST00000340094.3_Missense_Mutation_p.G143E|TNC_ENST00000346706.3_Missense_Mutation_p.G143E|TNC_ENST00000345230.3_Missense_Mutation_p.G143E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	143					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCAGCCTGCTCCTGCAGTACA	0.587000													66	61					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596672	3596672	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:3596672C>G	ENST00000315212.3	-	5	895	c.540G>C	c.(538-540)caG>caC	p.Q180H		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	180	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TTTGGTTTGTCTGCCGCCCAG	0.313000													49	141					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7751553	7751553	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:7751553G>A	ENST00000254846.5	+	11	2336	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	KDM6B_ENST00000448097.2_Silent_p.L649L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	649	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CAGGCCCCCTGAGTAAAGCCC	0.687000													12	33					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69107569	69107569	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:69107569G>A	ENST00000229179.4	+	11	1282	c.950G>A	c.(949-951)cGt>cAt	p.R317H	NUP107_ENST00000378905.2_Missense_Mutation_p.R166H|NUP107_ENST00000539906.1_Missense_Mutation_p.R288H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	317					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGAAGTGTTCGTCCGCTTGTC	0.343000													19	57					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37871714	37871714	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:37871714C>T	ENST00000406381.2	+	13	1658	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	ERBB2_ENST00000541774.1_Missense_Mutation_p.S398L|ERBB2_ENST00000445658.2_Missense_Mutation_p.S137L|ERBB2_ENST00000584601.1_Missense_Mutation_p.S383L|ERBB2_ENST00000269571.5_Missense_Mutation_p.S413L|ERBB2_ENST00000584450.1_Missense_Mutation_p.S413L|ERBB2_ENST00000540147.1_Missense_Mutation_p.S383L|ERBB2_ENST00000540042.1_Missense_Mutation_p.S383L|ERBB2_ENST00000578199.1_Missense_Mutation_p.S383L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	413					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTATACATCTCAGCATGGCCG	0.567000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	25					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825836	135825836	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:135825836G>A	ENST00000250617.6	-	5	1774	c.569C>T	c.(568-570)aCa>aTa	p.T190I	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T36I|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T36I|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T36I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	190	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTCAACTCGTGTGACGTAAAT	0.418000													45	35					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120110194	120110194	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:120110194G>C	ENST00000229328.5	+	2	740	c.248G>C	c.(247-249)cGa>cCa	p.R83P	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.R83P	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	83					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGGTGTTTCGATGGACGGGG	0.532000													49	53					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828952	57828952	+	Splice_Site	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:57828952G>T	ENST00000371030.2	+	5	4188		c.e5-1			NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831							intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTTGTTGCAGGATATTTCTC	0.463000													14	61					0.000151284	0.000157588	1	1	0
SH3BP4	23677	broad.mit.edu	37	2	235943656	235943656	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:235943656C>G	ENST00000409212.1	+	3	517	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	SH3BP4_ENST00000392011.2_Missense_Mutation_p.Q4E|SH3BP4_ENST00000344528.4_Missense_Mutation_p.Q4E			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	4					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GATGGCGGCTCAGCGGATCCG	0.547000													8	25					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989564	53989564	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:53989564C>T	ENST00000514921.1	+	3	626	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.V119V|MLIP_ENST00000358276.5_Silent_p.V165V|MLIP_ENST00000509997.1_Silent_p.V119V|MLIP_ENST00000502396.1_Silent_p.V182V|MLIP_ENST00000370876.2_Silent_p.V109V|MLIP_ENST00000274897.5_Silent_p.V171V	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	171						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCAGTCTGGTCTCTGATGTAG	0.552000													10	23					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919366	130919366	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:130919366G>A	ENST00000261655.4	-	11	2278	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	RIMBP2_ENST00000535703.1_Silent_p.D613D|RIMBP2_ENST00000536002.1_Silent_p.D613D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	705						cell junction|synapse		p.D705D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGTCCTCCTCGTCTGAGGCGG	0.597000													17	58					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739978	119739978	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:119739978G>C	ENST00000541757.1	+	13	1201	c.821G>C	c.(820-822)gGg>gCg	p.G274A	MARCO_ENST00000327097.4_Missense_Mutation_p.G352A			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	352	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAAGCAAAGGGGACACAGGT	0.587000													30	76					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43656905	43656905	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:43656905C>G	ENST00000264663.5	+	16	2665	c.2444C>G	c.(2443-2445)tCt>tGt	p.S815C	NNT_ENST00000512996.2_Missense_Mutation_p.S684C|NNT_ENST00000344920.4_Missense_Mutation_p.S815C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	815					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TCTGCTCTCTCTGCTGTCATG	0.423000													19	37					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032382	55032382	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:55032382G>A	ENST00000417545.2	+	2	137	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	1						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGAAACATGAATTCTGGAA	0.453000													49	125					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75559931	75559931	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:75559931G>C	ENST00000398706.2	+	22	5045	c.4828G>C	c.(4828-4830)Gag>Cag	p.E1610Q	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E1605Q|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E1423Q|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron	NM_015037.3	NP_055852.2			zinc finger, SWIM-type containing 8																		TGTGGCCTGTGAGTTGTGGGG	0.592000													12	28					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660872	233660872	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:233660872C>A	ENST00000373566.3	+	15	1843	c.1646C>A	c.(1645-1647)cCa>cAa	p.P549Q	GIGYF2_ENST00000452341.2_Missense_Mutation_p.P358Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P549Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P527Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P548Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P527Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.P521Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	527	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTGTCGATTCCATTGATGCAT	0.418000													16	59					4.7546e-09	5.13615e-09	1	1	0
CES2	8824	broad.mit.edu	37	16	66969599	66969599	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:66969599C>G	ENST00000317091.4	+	1	1237	c.253C>G	c.(253-255)Ctt>Gtt	p.L85V	CES2_ENST00000417689.1_Missense_Mutation_p.L85V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	21					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TCTGCTGCTTCTTGTCCGGGG	0.692000													21	61					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:178098803C>G	ENST00000397062.3	-	2	796	c.242G>C	c.(241-243)gGt>gCt	p.G81A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G81D(5)|p.G81V(4)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			28	87					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36824375	36824375	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:36824375G>A	ENST00000359297.2	-	2	168	c.161C>T	c.(160-162)gCg>gTg	p.A54V	STK40_ENST00000373130.3_Missense_Mutation_p.A59V|STK40_ENST00000373132.3_Missense_Mutation_p.A54V|STK40_ENST00000373129.3_Missense_Mutation_p.A54V|STK40_ENST00000482458.1_5'UTR			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	54	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ATCTTTCCTCGCCAAACACTG	0.572000													17	38					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400480	10400480	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:10400480G>A	ENST00000397077.1	-	13	2471	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R	ATP2B2_ENST00000383800.4_Silent_p.R632R|ATP2B2_ENST00000360273.2_Silent_p.R677R|ATP2B2_ENST00000343816.4_Silent_p.R663R|ATP2B2_ENST00000352432.4_Silent_p.R677R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	677					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGGGAAGTCGCGGTAGGCCA	0.632000													16	39					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	43010467	43010467	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:43010467G>A	ENST00000294973.6	-	4	392	c.337C>T	c.(337-339)Cta>Tta	p.L113L		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	113	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						AGCCCATCTAGCTCGGTCTCC	0.582000													3	11					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15110020	15110020	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:15110020G>C	ENST00000396410.4	+	9	859	c.762G>C	c.(760-762)ggG>ggC	p.G254G	PDXDC1_ENST00000447912.2_Silent_p.G163G|PDXDC1_ENST00000569715.1_Silent_p.G227G|PDXDC1_ENST00000455313.2_Silent_p.G231G|PDXDC1_ENST00000450288.2_Silent_p.G226G|PDXDC1_ENST00000535621.2_Silent_p.G254G|PDXDC1_ENST00000563679.1_Silent_p.G272G|PDXDC1_ENST00000325823.7_Silent_p.G239G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	254					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACAAGATTGGGAGATTGAAAG	0.483000													11	63					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060775	144060775	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:144060775C>A	ENST00000056217.5	+	2	1187	c.1013C>A	c.(1012-1014)gCg>gAg	p.A338E		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	338					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAGAATAGGGCGGACTCTCAG	0.512000													27	154					3.73988e-18	4.15543e-18	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35339007	35339007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:35339007G>T	ENST00000278379.3	-	2	356	c.74C>A	c.(73-75)tCa>tAa	p.S25*	SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.S16*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.S16*|SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.S25*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	25					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGGTTCCTCTGAGCCAAGATG	0.562000													50	105					5.82388e-19	6.49159e-19	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	21					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129991551	129991551	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:129991551C>G	ENST00000263574.5	+	5	631	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_Missense_Mutation_p.L187V|APLP2_ENST00000543137.1_Missense_Mutation_p.L94V|APLP2_ENST00000338167.5_Missense_Mutation_p.L187V|APLP2_ENST00000539648.1_Missense_Mutation_p.L31V|APLP2_ENST00000278756.7_Missense_Mutation_p.L197V	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	187					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CTACGGCATGCTGCTCCCATG	0.463000													54	146					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286390	4286390	+	Silent	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:4286390C>A	ENST00000381971.3	-	2	629	c.36G>T	c.(34-36)cgG>cgT	p.R12R		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCCCGATGTCCGGTGGAGAC	0.552000													17	8					1.33834e-09	1.45471e-09	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177114113	177114113	+	Translation_Start_Site	SNP	G	G	C	rs144504100		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:177114113G>C	ENST00000515234.1	-	0	1539				SPATA4_ENST00000280191.2_Missense_Mutation_p.R155G			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4						apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ACTTACTCTCGATGTGTTAAT	0.279000													13	46					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997779	29997779	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:29997779G>A	ENST00000308893.4	+	16	3229	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R729Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R556Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R729Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	729					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAAGAGTTGCGGCAGAAGCAT	0.677000													12	62					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1291202	1291202	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:1291202C>T	ENST00000397203.2	+	10	2393	c.1987C>T	c.(1987-1989)Ctg>Ttg	p.L663L	ERC1_ENST00000355446.5_Silent_p.L663L|ERC1_ENST00000360905.4_Silent_p.L663L|ERC1_ENST00000543086.3_Silent_p.L635L|ERC1_ENST00000589028.1_Silent_p.L663L|ERC1_ENST00000546231.2_Silent_p.L663L|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	663					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AAAAGTCAGCCTGTTGCAAGG	0.398000													7	39					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79428682	79428682	+	Missense_Mutation	SNP	C	C	T	rs968093		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:79428682C>T	ENST00000264895.6	+	62	9864	c.9424C>T	c.(9424-9426)Ctt>Ttt	p.L3142F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3137					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGAAGCAGTTCTTGGGGATGT	0.493000													6	23					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58450465	58450465	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:58450465G>A	ENST00000357552.3	-	34	3435	c.3210C>T	c.(3208-3210)gtC>gtT	p.V1070V	SYCP2_ENST00000371001.2_Silent_p.V1070V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1070					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGCACAGAAGACTTTCTGTT	0.333000													15	41					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616666	77616666	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:77616666G>A	ENST00000521891.2	+	2	791	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E115K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E115K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E115K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACGAGAGCGAGATCAGCGA	0.478000										HNSCC(33;0.089)			12	54					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345897	124345897	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:124345897C>T	ENST00000338354.3	+	16	1887	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	DMBT1_ENST00000344338.3_Missense_Mutation_p.S584L|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.S594L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S584L|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	594	SRCR 4.			S -> SDTLPTTTLPASTV (in Ref. 3; CAB63941).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCATCTGCTCAGGTGGGCCT	0.493000													24	94					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908679	103908679	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:103908679G>C	ENST00000302259.3	+	1	1372	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	377					proteolysis		aspartic-type endopeptidase activity	p.D377N(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGTGGGCAAGATGAGTCTTC	0.448000													11	25					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112969749	112969749	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:112969749G>C	ENST00000400613.4	-	1	720	c.111C>G	c.(109-111)ctC>ctG	p.L37L	C9orf152_ENST00000473442.1_5'UTR	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	37										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGATGCTGAGTGGGGGCC	0.622000													43	20					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019512	110019512	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:110019512C>G	ENST00000369872.3	+	4	585	c.369C>G	c.(367-369)atC>atG	p.I123M	SYPL2_ENST00000401021.3_Missense_Mutation_p.I123M	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	123	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCCTTGGCATCTTTTCCTTCT	0.532000													13	30					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64112808	64112808	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:64112808C>A	ENST00000337130.5	+	6	1137	c.661C>A	c.(661-663)Cca>Aca	p.P221T	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.P230T|UGP2_ENST00000467648.2_Missense_Mutation_p.P210T|UGP2_ENST00000394417.2_Missense_Mutation_p.P210T	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	221					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTGGTACCCTCCAGGTCATGG	0.368000													37	110					5.04308e-16	5.56807e-16	1	1	0
KCNAB3	9196	broad.mit.edu	37	17	7827544	7827544	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:7827544G>C	ENST00000303790.2	-	10	750	c.751C>G	c.(751-753)Cca>Gca	p.P251A		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	251						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCACACACTGGAGGAATCAGA	0.527000													9	21					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616039	25616039	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:25616039C>T	ENST00000232165.3	-	6	1938	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	UBE3A_ENST00000566215.1_Missense_Mutation_p.E408K|UBE3A_ENST00000428984.2_Missense_Mutation_p.E408K|UBE3A_ENST00000397954.2_Missense_Mutation_p.E431K|UBE3A_ENST00000438097.1_Missense_Mutation_p.E408K|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	431	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ACACCAAGTTCAGTTTCCAGG	0.428000													13	28					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442627	110442627	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:110442627G>C	ENST00000265175.5	+	14	2408	c.2353G>C	c.(2353-2355)Gaa>Caa	p.E785Q	SEC24B_ENST00000399100.2_Missense_Mutation_p.E750Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.E815Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	785					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	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATACAAGAGAAACACACAG	0.393000													14	35					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64680857	64680857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:64680857C>A	ENST00000421419.2	-	5	721	c.607G>T	c.(607-609)Gag>Tag	p.E203*	ATG2A_ENST00000377264.3_Nonsense_Mutation_p.E203*			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	203							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCACTGCCTCATCACAGTAC	0.672000													4	5					1	1	1	1	0
SEMA3F	6405	broad.mit.edu	37	3	50222076	50222076	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:50222076G>A	ENST00000002829.3	+	13	1769	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	SEMA3F_ENST00000434342.1_Missense_Mutation_p.D398N|SEMA3F_ENST00000413852.1_Missense_Mutation_p.D330N	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	429	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGATTATCCTGATGAGGTGAT	0.617000													12	32					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10828424	10828424	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:10828424G>A	ENST00000526148.1	-	3	560	c.50C>T	c.(49-51)tCg>tTg	p.S17L	EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17L|EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17L|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17L	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	17					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCTCCGCCCGAAGAAGCACT	0.388000													18	59					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102257038	102257038	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:102257038C>T	ENST00000370345.3	-	17	2088		c.e17-1			NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCAGCATGTCTGCAGAGAGA	0.557000													24	23					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216197	140216197	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:140216197C>T	ENST00000525929.1	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S743S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.632000													13	33					0	0	1	0	0
ZNF674	641339	broad.mit.edu	37	X	46359693	46359693	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:46359693C>T	ENST00000523374.1	-	6	1541	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	ZNF674_ENST00000414387.2_Missense_Mutation_p.R438K	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						CCCACATCTTCTGCATTCATA	0.423000													23	15					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768106	60768106	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:60768106G>T	ENST00000303375.5	+	27	4398	c.3996G>T	c.(3994-3996)atG>atT	p.M1332I	MRC2_ENST00000446119.2_Missense_Mutation_p.M198I	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1332	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCTGGGCATGAACTTCAACC	0.612000													6	18					5.9392e-07	6.29915e-07	1	1	0
PAX4	5078	broad.mit.edu	37	7	127252026	127252026	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:127252026C>T	ENST00000341640.2	-	7	925	c.720G>A	c.(718-720)agG>agA	p.R240R	PAX4_ENST00000338516.3_Intron|PAX4_ENST00000378740.2_Silent_p.R240R|PAX4_ENST00000463946.1_Silent_p.R238R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	248					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGGGGCAACCCTTGGTACAG	0.562000													12	18					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597000													4	109					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370101	36370101	+	Silent	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:36370101C>A	ENST00000221891.4	+	16	2031	c.1839C>A	c.(1837-1839)atC>atA	p.I613I	APLP1_ENST00000586861.1_Silent_p.I606I|APLP1_ENST00000537454.2_Silent_p.I573I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	612					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACGGGGCTATCAGCCATGGCG	0.652000													8	33					0.00448238	0.00461422	1	1	0
INADL	10207	broad.mit.edu	37	1	62550201	62550201	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:62550201C>G	ENST00000371158.2	+	33	4372	c.4258C>G	c.(4258-4260)Cct>Gct	p.P1420A	INADL_ENST00000316485.6_Missense_Mutation_p.P1420A|INADL_ENST00000543708.1_Missense_Mutation_p.P204A|INADL_ENST00000545929.1_Missense_Mutation_p.P93A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1420					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						TTTCCAGGCTCCTCTGTCAGT	0.532000													14	45					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575798	49575798	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:49575798C>T	ENST00000244051.1	+	1	436	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	140					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.S140L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AAGGCCTTTTCGGCCGCCGCC	0.652000													11	42					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632000													9	63					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25194756	25194756	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:25194756C>T	ENST00000264711.2	-	1	207	c.18G>A	c.(16-18)ccG>ccA	p.P6P	DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	6					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTTCCGCTTCGGCATGTTGG	0.672000													6	9					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853982	88853982	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:88853982C>G	ENST00000537554.1	-	2	4574	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H	CNR1_ENST00000535130.1_Missense_Mutation_p.D338H|CNR1_ENST00000549716.1_Missense_Mutation_p.D277H|CNR1_ENST00000468898.1_Missense_Mutation_p.D305H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.D338H|CNR1_ENST00000549890.1_Missense_Mutation_p.D338H|CNR1_ENST00000428600.2_Missense_Mutation_p.D338H|CNR1_ENST00000369499.2_Missense_Mutation_p.D338H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	338					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AACCTAATGTCCATGCGGGCT	0.557000													15	59					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11774978	11774978	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:11774978G>A	ENST00000262442.4	+	52	10185	c.10117G>A	c.(10117-10119)Gaa>Aaa	p.E3373K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3373K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAACAGCAGGAAAGGACGTT	0.483000													28	85					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr18:580651G>A	ENST00000327228.3	+	1	285	c.243G>A	c.(241-243)acG>acA	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537000													4	19					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46838173	46838173	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:46838173G>C	ENST00000339613.2	+	14	1929	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L	HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Silent_p.L545L|HIF3A_ENST00000377670.4_Silent_p.L614L|HIF3A_ENST00000300862.3_Silent_p.L612L|HIF3A_ENST00000244303.6_Silent_p.L545L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.L563L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	614	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTTTCCTTCTGACAGGAGGAC	0.567000													16	41					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270087	53270087	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:53270087C>T	ENST00000338230.3	-	3	1189	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAACTTTGTCACATTCTTCA	0.373000													30	76					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150462	120150462	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:120150462G>A	ENST00000392521.2	-	36	4673	c.4618C>T	c.(4618-4620)Ccc>Tcc	p.P1540S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.P1498S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1498	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCCGTCGGGAAGGCACAGC	0.547000													30	33					0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77672364	77672364	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:77672364G>C	ENST00000370812.3	-	3	223	c.200C>G	c.(199-201)tCt>tGt	p.S67C	PIGK_ENST00000370813.5_Intron|PIGK_ENST00000478391.1_Intron|PIGK_ENST00000359130.1_Missense_Mutation_p.S67C|PIGK_ENST00000445065.1_Intron	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	67					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCTATAAACAGAAAGGGTATT	0.348000													30	81					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171292305	171292305	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:171292305G>C	ENST00000367749.3	+	4	625	c.295G>C	c.(295-297)Gac>Cac	p.D99H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	99					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAGCACTTTGACCTCCTGAA	0.373000													16	35					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37816090	37816090	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:37816090G>C	ENST00000326524.2	-	3	498	c.299C>G	c.(298-300)cCa>cGa	p.P100R	GDNF_ENST00000427982.1_Missense_Mutation_p.P117R|GDNF_ENST00000515058.1_Missense_Mutation_p.P74R|GDNF_ENST00000344622.4_Missense_Mutation_p.P74R|GDNF_ENST00000381826.4_Missense_Mutation_p.P91R	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	100					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.P100Q(1)|p.P117Q(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAATTCTCTGGGTTGGCAGC	0.483000													24	62					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68030085	68030085	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:68030085C>G	ENST00000304271.6	-	4	780	c.378G>C	c.(376-378)atG>atC	p.M126I	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	126						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGGCCACAGTCATACTGGAGG	0.612000													4	25					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108203606	108203606	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:108203606A>G	ENST00000278616.4	+	53	8291	c.7906A>G	c.(7906-7908)Act>Gct	p.T2636A	ATM_ENST00000452508.2_Missense_Mutation_p.T2636A|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2636					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTAGATGCCACTCAGTGGAA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	38					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215583	140215583	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:140215583G>A	ENST00000525929.1	+	1	1615	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D539N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGATGCGGGCGT	0.682000													43	106					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65448152	65448152	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:65448152C>G	ENST00000300107.3	-	10	1377	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	397					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	p.E397K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GAATTCTTTTCTGGAACATTG	0.343000													19	65					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25670549	25670549	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:25670549C>G	ENST00000435706.2	-	14	1963	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	TOP2B_ENST00000264331.4_Missense_Mutation_p.E593Q			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	593					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTAATGAACTCTTCAAGAAAA	0.289000													20	48					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247289	164247289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:164247289G>A	ENST00000296533.2	-	2	949	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	140					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATTATCAGCTGATGTCGTTCC	0.438000													17	46					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101246631	101246631	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:101246631G>A	ENST00000369162.2	-	8	1697	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ASCC3_ENST00000522650.1_Silent_p.L451L	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTCAAAGCTGAGTGGCATTG	0.383000													22	48					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138145756	138145756	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:138145756T>C	ENST00000302763.7	+	4	421	c.331T>C	c.(331-333)Ttc>Ctc	p.F111L	CTNNA1_ENST00000518825.1_Missense_Mutation_p.F111L|CTNNA1_ENST00000355078.5_Missense_Mutation_p.F8L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	111	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAGGAGAGTTCGCAGATGA	0.433000													16	55					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200309	174200309	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:174200309C>G	ENST00000251507.4	+	4	532	c.358C>G	c.(358-360)Cca>Gca	p.P120A	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P83A|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	120					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACCATCTTCTCCAGGTGGACT	0.378000													18	58					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959440	27959440	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:27959440C>T	ENST00000269033.3	-	15	2842	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.K924K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	897					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTTGAATTCTTACGAGTGG	0.498000													70	183					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103867859	103867859	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:103867859C>G	ENST00000296422.7	-	5	611	c.470G>C	c.(469-471)aGa>aCa	p.R157T	SLC9B1_ENST00000394789.3_Missense_Mutation_p.R157T	NM_139173.3	NP_631912	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	157						integral to membrane	solute:hydrogen antiporter activity										GGCAATGCTTCTTAAAATTGA	0.358000													33	88					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304195	3304195	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:3304195C>T	ENST00000219596.1	-	2	912	c.873G>A	c.(871-873)ctG>ctA	p.L291L	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	291					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCCTTCCTTCAGGTCCGCAG	0.537000													28	82					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680448	95680448	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:95680448C>G	ENST00000433389.2	+	10	1393	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	ESRP1_ENST00000358397.5_Silent_p.L401L|ESRP1_ENST00000423620.2_Silent_p.L401L|ESRP1_ENST00000454170.2_Silent_p.L401L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	401	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACATTGAACTCTTCAGGAGCA	0.408000													13	23					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1102127	1102127	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:1102127C>T	ENST00000441003.2	+	44	7790	c.7763C>T	c.(7762-7764)aCg>aTg	p.T2588M		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4950						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCGTGTGCACGGACAAGGTG	0.622000													20	33					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115151390	115151390	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:115151390C>G	ENST00000393274.1	-	10	2099	c.1474G>C	c.(1474-1476)Gaa>Caa	p.E492Q	DENND2C_ENST00000393276.3_Missense_Mutation_p.E435Q|DENND2C_ENST00000393277.1_Missense_Mutation_p.E492Q|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	492										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGTTCAAACAGCTGC	0.473000													15	48					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	6					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144990867	144990867	+	Silent	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:144990867C>A	ENST00000322810.4	-	32	13702	c.13533G>T	c.(13531-13533)ctG>ctT	p.L4511L	PLEC_ENST00000398774.2_Silent_p.L4342L|PLEC_ENST00000356346.3_Silent_p.L4360L|PLEC_ENST00000345136.3_Silent_p.L4374L|PLEC_ENST00000357649.2_Silent_p.L4378L|PLEC_ENST00000527096.1_Silent_p.L4397L|PLEC_ENST00000436759.2_Silent_p.L4401L|PLEC_ENST00000354958.2_Silent_p.L4352L|PLEC_ENST00000354589.3_Silent_p.L4374L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4511	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCCTTCTTCAGGGCCTGGG	0.667000													15	37					0.00316338	0.00326603	1	1	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372722	74372722	+	RNA	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:74372722G>A	ENST00000429810.2	-	0	1474																											GCCGGTCGTAGAGAGGAGAGG	0.502000													8	15					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41641365	41641365	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:41641365G>C	ENST00000260359.6	+	3	496	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	NUSAP1_ENST00000450592.2_Missense_Mutation_p.E55Q|NUSAP1_ENST00000560177.1_Missense_Mutation_p.E78Q|NUSAP1_ENST00000450318.1_Missense_Mutation_p.E78Q|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000559596.1_Missense_Mutation_p.E78Q|NUSAP1_ENST00000414849.2_Missense_Mutation_p.E78Q|NUSAP1_ENST00000560747.1_Missense_Mutation_p.E78Q	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	78					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GGAAGAAGCTGAGAGACAGCC	0.448000													9	31					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81606086	81606086	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:81606086G>C	ENST00000541158.2	+	10	1078	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TSHR_ENST00000298171.2_Silent_p.L252L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	252			L -> P (in CHNG1; displays a low expression at the cell surface and a reduced response to bovine TSH in terms of cAMP production).		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)	TGAAGGAACTGATAGCAAGAA	0.507000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						18	47					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816165	82816165	+	Missense_Mutation	SNP	G	G	C	rs139358837		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:82816165G>C	ENST00000265077.3	+	7	2605	c.2040G>C	c.(2038-2040)atG>atC	p.M680I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.M680I|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.M632I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	680	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAACAGAAATGACACATAGAA	0.328000													15	33					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631736	122631736	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:122631736C>T	ENST00000195173.4	-	18	2979	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V	SEMA5B_ENST00000357599.3_Silent_p.V893V|SEMA5B_ENST00000451055.2_Silent_p.V947V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	893	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCATCGCCCACGCAGGGCA	0.672000													20	39					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466660	164466660	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:164466660C>G	ENST00000333129.3	-	3	1996	c.1682G>C	c.(1681-1683)gGa>gCa	p.G561A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	561						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCTGCTTCTCCTAACCACTT	0.493000													4	33					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85619467	85619467	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:85619467G>C	ENST00000376447.3	-	9	1408	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	383					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTGCTTCTAGAAATTGTATT	0.323000													25	21					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233633216	233633216	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:233633216C>T	ENST00000233826.3	-	3	907	c.768G>A	c.(766-768)ctG>ctA	p.L256L	GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000410029.1_Silent_p.L256L|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	256						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CATGCTGGAGCAGAGTAGCCA	0.438000													22	54					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145676	107145676	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr13:107145676G>A	ENST00000245323.4	-	5	863	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	238					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tgatgacgatgaagatgatgC	0.562000													15	55					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													7	86					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929500	24929500	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:24929500T>A	ENST00000405141.1	+	14	1872	c.1161T>A	c.(1159-1161)aaT>aaA	p.N387K	NCOA1_ENST00000407230.1_Missense_Mutation_p.N236K|NCOA1_ENST00000288599.5_Missense_Mutation_p.N387K|NCOA1_ENST00000538539.1_Missense_Mutation_p.N387K|NCOA1_ENST00000406961.1_Missense_Mutation_p.N387K|NCOA1_ENST00000395856.3_Missense_Mutation_p.N387K|NCOA1_ENST00000348332.3_Missense_Mutation_p.N387K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	387	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGAGTAAATCCCTCGGTCA	0.463000			T	PAX3	alveolar rhadomyosarcoma								8	35					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32489410	32489410	+	Missense_Mutation	SNP	C	C	T	rs143106649		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:32489410C>T	ENST00000379882.1	-	5	753	c.596G>A	c.(595-597)aGa>aAa	p.R199K	DDX58_ENST00000542096.1_Missense_Mutation_p.R173K|DDX58_ENST00000379868.1_Missense_Mutation_p.R41K|DDX58_ENST00000379883.2_Missense_Mutation_p.R244K|DDX58_ENST00000545044.1_Missense_Mutation_p.R41K			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	244					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTGGTAATTTCTTGGTTTAAA	0.373000													33	28					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	48					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10533033	10533033	+	Missense_Mutation	SNP	G	G	A	rs145624953		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:10533033G>A	ENST00000583535.1	-	40	5764	c.5677C>T	c.(5677-5679)Cat>Tat	p.H1893Y	MYH3_ENST00000226209.7_Missense_Mutation_p.H1893Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1893					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGTGAGATGAGCATTGGCT	0.542000													25	54					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64744078	64744078	+	Silent	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:64744078G>T	ENST00000374811.3	-	10	1198	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	LAS1L_ENST00000374807.5_Silent_p.L369L|LAS1L_ENST00000374804.5_Silent_p.L327L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	386						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GCAGGCCCCTGAGCAGGGGCT	0.577000													5	4					0.184627	0.185688	1	1	0
ZNF385B	151126	broad.mit.edu	37	2	180634384	180634384	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:180634384G>A	ENST00000410066.1	-	3	702	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	33						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACAGAAGGAGAAAAGAATTT	0.478000													18	53					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32274094	32274094	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:32274094C>G	ENST00000382142.3	-	3	447	c.277G>C	c.(277-279)Gat>Cat	p.D93H	MTMR12_ENST00000264934.5_Missense_Mutation_p.D93H|MTMR12_ENST00000280285.5_Missense_Mutation_p.D93H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	93						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACATCATTATCCAATGCAGAT	0.468000													24	50					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327147	77327147	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:77327147C>A	ENST00000282849.5	-	20	3433	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1005	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTCCACAGGTCTTGGAACACT	0.473000													8	40					0.000157383	0.000163454	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227964339	227964339	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:227964339T>A	ENST00000396625.3	-	18	1303	c.1096A>T	c.(1096-1098)Aaa>Taa	p.K366*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.K366*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	366	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)		CACAAACCTTTGAGTGGAAGA	0.458000													5	15					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734895	12734895	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:12734895C>T	ENST00000380682.1	+	15	2823	c.2317C>T	c.(2317-2319)Ctg>Ttg	p.L773L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	773					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATCCTCAACCTGTCTGGGTC	0.562000													44	39					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18544416	18544416	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:18544416G>C	ENST00000330537.6	-	12	1476	c.1306C>G	c.(1306-1308)Caa>Gaa	p.Q436E	NOMO2_ENST00000543392.1_Missense_Mutation_p.Q269E|NOMO2_ENST00000381474.3_Missense_Mutation_p.Q436E	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	436						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCCTTGTCTTGAGATGACAGG	0.448000													32	75					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266062	1266062	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:1266062C>G	ENST00000447027.1	+	31	8019	c.7961C>G	c.(7960-7962)tCc>tGc	p.S2654C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S2651C|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2651	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCCTCCTCCATCCCGGGG	0.637000													11	38					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232569	155232569	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:155232569G>A	ENST00000460012.1	-	12	1842	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	PLCH1_ENST00000414191.1_Silent_p.F495F|PLCH1_ENST00000447496.2_Silent_p.F513F|PLCH1_ENST00000334686.6_Silent_p.F495F|PLCH1_ENST00000494598.1_Silent_p.F513F|PLCH1_ENST00000340059.7_Silent_p.F513F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	513					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCGCACTGTGAAACTATCAG	0.418000													15	25					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532614	100532614	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:100532614T>C	ENST00000372907.3	-	9	940	c.929A>G	c.(928-930)aAg>aGg	p.K310R	TAF7L_ENST00000356784.1_Missense_Mutation_p.K224R|TAF7L_ENST00000324762.6_Missense_Mutation_p.K224R|TAF7L_ENST00000372905.2_Missense_Mutation_p.K224R	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	310					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGACCCTGCTTGTGGCTGCT	0.438000													54	46					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958995	34958995	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:34958995C>G	ENST00000250156.7	+	2	795	c.556C>G	c.(556-558)Cca>Gca	p.P186A	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	186					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCCGCTCACTCCAGTAGTCAG	0.617000													11	59					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65448139	65448139	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:65448139C>T	ENST00000300107.3	-	10	1390	c.1202G>A	c.(1201-1203)cGa>cAa	p.R401Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	401					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ACGGAGCTTTCGGGAATTCTT	0.373000													19	67					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169238	138169238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:138169238G>A	ENST00000409968.1	+	14	2933	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E888K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E919K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGGAGACAGAACTATGTCC	0.438000													12	41					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296555	39296555	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:39296555C>T	ENST00000345847.4	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcAGGT	0.667000													13	50					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68658296	68658296	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:68658296C>T	ENST00000297770.4	-	1	284	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.K23K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	23					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTTGCAGAATCTTCAAAAAGA	0.507000													8	47					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44571828	44571828	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:44571828G>A	ENST00000372409.3	+	8	1130	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	256						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGCAACTGTGAACCAGTCGT	0.542000													25	63					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977556	107977556	+	Silent	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:107977556C>A	ENST00000372129.2	-	1	2095	c.2019G>T	c.(2017-2019)gtG>gtT	p.V673V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	673						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCATCTTTCACTTCTTTGG	0.502000													84	64					6.20368e-34	6.93703e-34	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023330	76023330	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:76023330G>C	ENST00000393004.2	-	5	2439	c.2218C>G	c.(2218-2220)Cag>Gag	p.Q740E	FILIP1_ENST00000370020.1_Missense_Mutation_p.Q641E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.Q740E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	740										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGAAAGCTGATCTTCTTTG	0.378000													28	78					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715784	10715784	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:10715784G>A	ENST00000377022.3	-	9	1904	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	CASZ1_ENST00000344008.5_Silent_p.F529F	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGCGGGCTGAAACGCATGA	0.607000													15	33					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519882	62519882	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:62519882C>T	ENST00000394807.3	-	2	1530	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGAACATCCTCAGTAAAAACC	0.547000													14	42					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087979	31087979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:31087979G>T	ENST00000394979.2	+	1	757	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E112*			O15015	ZN646_HUMAN	zinc finger protein 646	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGCCCCAAGGAAGCCACTCC	0.592000													13	32					1.15088e-07	1.22807e-07	1	1	0
AKNA	80709	broad.mit.edu	37	9	117124723	117124723	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:117124723C>T	ENST00000307564.4	-	8	2040	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	AKNA_ENST00000223791.3_Missense_Mutation_p.G87S|AKNA_ENST00000374088.3_Missense_Mutation_p.G627S|AKNA_ENST00000374075.5_Missense_Mutation_p.G546S|AKNA_ENST00000312033.3_Missense_Mutation_p.G627S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCCTTGGAGCCGGCAAGCGGC	0.647000													9	6					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86938503	86938503	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:86938503C>T	ENST00000395169.3	-	14	1879	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	MAPK10_ENST00000395157.3_Missense_Mutation_p.E280K|MAPK10_ENST00000359221.3_Missense_Mutation_p.E425K|MAPK10_ENST00000395166.1_Missense_Mutation_p.E387K|MAPK10_ENST00000449047.2_Missense_Mutation_p.E280K|MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000395160.3_3'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	425					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGGAGACTCTCACTGCTGTTC	0.527000													23	69					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86012687	86012687	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:86012687C>G	ENST00000359452.4	+	4	483	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	RGR_ENST00000358110.5_Missense_Mutation_p.L145V	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	145					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGGCAGCTCTGCCCCTTCT	0.602000													16	25					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088254	92088254	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:92088254C>T	ENST00000298047.6	+	1	2993	c.2976C>T	c.(2974-2976)atC>atT	p.I992I	FAT3_ENST00000525166.1_Silent_p.I842I|FAT3_ENST00000409404.2_Silent_p.I992I|FAT3_ENST00000541502.1_Silent_p.I992I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	992	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I992I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTGCCATCCGCTTGAGCA	0.463000										TCGA Ovarian(4;0.039)			13	34					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112575311	112575311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:112575311C>T	ENST00000230538.7	-	2	439	c.42G>A	c.(40-42)tgG>tgA	p.W14*	LAMA4_ENST00000522006.1_Nonsense_Mutation_p.W14*|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000368638.4_Nonsense_Mutation_p.W14*|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.W14*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.W14*|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000431543.2_Nonsense_Mutation_p.W14*|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000453937.2_Nonsense_Mutation_p.W14*|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	14					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCAGAGGAGCCACAGAGGCA	0.637000													3	11					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307849	43307849	+	Missense_Mutation	SNP	G	G	C	rs146765143		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:43307849G>C	ENST00000361428.2	-	10	3964	c.3887C>G	c.(3886-3888)tCt>tGt	p.S1296C	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1296	Lys-rich.				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)			CTCTTCTTTAGAGATACTTGG	0.403000													51	128					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41069843	41069843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:41069843C>T	ENST00000399564.4	-	2	490	c.40G>A	c.(40-42)Gat>Aat	p.D14N		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGTTAATATCCCCAAACATC	0.333000													4	9					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908616	65908616	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:65908616C>T	ENST00000321892.4	+	13	5055	c.4994C>T	c.(4993-4995)tCa>tTa	p.S1665L	BPTF_ENST00000424123.3_Missense_Mutation_p.S1526L|BPTF_ENST00000306378.6_Missense_Mutation_p.S1539L|BPTF_ENST00000335221.5_Missense_Mutation_p.S1665L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1665					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATAGAAACCTCAGAAGTTAAG	0.373000													17	51					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754368	47754368	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:47754368C>T	ENST00000489301.2	+	2	333	c.248C>T	c.(247-249)tCa>tTa	p.S83L	OPN5_ENST00000371211.2_Missense_Mutation_p.S83L|OPN5_ENST00000393699.2_Missense_Mutation_p.S83L			Q6U736	OPN5_HUMAN	opsin 5	83					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTGGGGATTTCAGGTAACACA	0.423000													20	44					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736319	219736319	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:219736319C>T	ENST00000233948.3	+	3	631	c.414C>T	c.(412-414)cgC>cgT	p.R138R	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	138					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		Aggcgccccgcgggcgggccc	0.791000													5	6					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754643	140754643	+	Silent	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:140754643G>T	ENST00000517434.1	+	1	993	c.993G>T	c.(991-993)gcG>gcT	p.A331A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACAGAGCGAAAGTCTTAA	0.443000													29	76					7.16026e-08	7.6874e-08	1	1	0
TTC30A	92104	broad.mit.edu	37	2	178482219	178482219	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:178482219C>G	ENST00000355689.5	-	1	1475	c.1211G>C	c.(1210-1212)aGa>aCa	p.R404T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTCATCATCTCTGTTGTGTCT	0.443000													60	169					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34626230	34626230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:34626230G>A	ENST00000374789.3	-	17	2867	c.2542C>T	c.(2542-2544)Cga>Tga	p.R848*	PARD3_ENST00000544292.1_Nonsense_Mutation_p.R562*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R845*|PARD3_ENST00000374773.1_Intron|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R845*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R788*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R788*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R832*|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R848*|PARD3_ENST00000374776.1_Intron|PARD3_ENST00000545260.1_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	848	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTTGATTTTCGTGTTTTAACG	0.348000													14	28					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89345855	89345855	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:89345855G>C	ENST00000264346.7	+	15	1994		c.e15+1		HERC6_ENST00000380265.5_Intron	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAAGATGCAGGTATGTATGTC	0.299000													14	25					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889751	24889751	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:24889751C>G	ENST00000396432.2	-	14	3442	c.2956G>C	c.(2956-2958)Gag>Cag	p.E986Q	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E773Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	985	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGGGCTGCTCTTCCTCAGAC	0.458000													21	58					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894266	77894266	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr18:77894266C>A	ENST00000262198.4	+	4	1425	c.970C>A	c.(970-972)Cct>Act	p.P324T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	324	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P324T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCATTCCCCCCCTGCTGCTGG	0.627000													3	53					0.115264	0.116934	1	1	0
WDR72	256764	broad.mit.edu	37	15	54005008	54005008	+	Silent	SNP	A	A	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:54005008A>C	ENST00000396328.1	-	7	911	c.672T>G	c.(670-672)acT>acG	p.T224T	WDR72_ENST00000559418.1_Silent_p.T224T|WDR72_ENST00000557913.1_Silent_p.T223T|WDR72_ENST00000360509.5_Silent_p.T224T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	224										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAAGTCTCTCAGTATATGTGC	0.308000													24	51					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707928	109707928	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr13:109707928C>T	ENST00000356711.2	+	27	3380	c.3254C>T	c.(3253-3255)tCg>tTg	p.S1085L	MYO16_ENST00000457511.2_Missense_Mutation_p.S597L|MYO16_ENST00000357550.2_Missense_Mutation_p.S1085L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1085	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTTTCCTTCTCGGATTTCCTG	0.433000													15	80					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50873008	50873008	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:50873008C>T	ENST00000395562.2	+	16	2386	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Silent_p.L603L|CHAT_ENST00000337653.2_Silent_p.L721L|CHAT_ENST00000395559.2_Silent_p.L603L|CHAT_ENST00000339797.1_Silent_p.L603L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	721					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGAGAGACCTCTGCAGTCTGC	0.507000													34	113					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464315	141464315	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:141464315C>T	ENST00000247879.2	+	1	419	c.357C>T	c.(355-357)ttC>ttT	p.F119F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	119					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ACCCCACATTCCTCTGGCTCA	0.478000													38	136					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717690	73717690	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:73717690G>C	ENST00000264448.6	+	10	8712	c.8601G>C	c.(8599-8601)aaG>aaC	p.K2867N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K2825N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2867					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						TAAAAGAGAAGAATGTAACTA	0.418000													17	49					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018673	88018673	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:88018673G>C	ENST00000504921.2	-	10	1842	c.1170C>G	c.(1168-1170)atC>atG	p.I390M	MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.I390M|MEF2C_ENST00000437473.2_Missense_Mutation_p.I390M|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000510942.1_Missense_Mutation_p.I382M|MEF2C_ENST00000539796.1_Missense_Mutation_p.I334M|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.I400M|MEF2C_ENST00000424173.2_Missense_Mutation_p.I380M			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	390	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTTCTGACTTGATGTTGAGGC	0.507000										HNSCC(66;0.2)			5	21					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75574135	75574135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:75574135G>C	ENST00000238616.5	-	11	1396	c.1238C>G	c.(1237-1239)tCc>tGc	p.S413C		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	413					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTGTCGATAGGAGGCTTTGTC	0.433000													10	33					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912329	139912329	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:139912329C>G	ENST00000265662.5	-	16	2268	c.2121G>C	c.(2119-2121)atG>atC	p.M707I	ABCA2_ENST00000371605.3_Missense_Mutation_p.M706I|ABCA2_ENST00000341511.6_Missense_Mutation_p.M707I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	706					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAGCGGCATCATGTGCTCAA	0.667000													21	12					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907246	65907246	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:65907246C>G	ENST00000321892.4	+	13	3685	c.3624C>G	c.(3622-3624)atC>atG	p.I1208M	BPTF_ENST00000424123.3_Missense_Mutation_p.I1069M|BPTF_ENST00000306378.6_Missense_Mutation_p.I1082M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1208M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1208					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGAAAAAATCAAGTTGGAGG	0.348000													12	25					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986122	61986122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr13:61986122G>A	ENST00000409186.1	-	5	4215	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.Q704*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	677	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGCTTTGCTGCTCTCTGTCC	0.458000													31	47					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47467632	47467632	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:47467632C>T	ENST00000265565.5	-	7	1177	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	255					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCAGAAGCATCAGGCGGGCAC	0.612000													5	14					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48597671	48597671	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:48597671C>T	ENST00000537810.1	-	15	1788	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	FRYL_ENST00000503238.1_Missense_Mutation_p.R395Q|FRYL_ENST00000507711.1_Missense_Mutation_p.R395Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.R101Q|FRYL_ENST00000358350.4_Missense_Mutation_p.R395Q			O94915	FRYL_HUMAN	FRY-like	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R395Q(2)		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						AACCACACTTCGTGAGCCTTT	0.378000													9	37					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43464725	43464725	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr18:43464725G>A	ENST00000282041.5	-	30	5195	c.5161C>T	c.(5161-5163)Ctg>Ttg	p.L1721L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1721					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGTTCTTCAGAATGGTTTCA	0.428000													7	29					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142741077	142741077	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:142741077G>A	ENST00000230173.6	+	22	3631	c.3155G>A	c.(3154-3156)gGc>gAc	p.G1052D	GPR126_ENST00000296932.8_Missense_Mutation_p.G1024D|GPR126_ENST00000367609.3_Missense_Mutation_p.G1052D|GPR126_ENST00000367608.2_Missense_Mutation_p.G1024D	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1052					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGGAGGAATGGCAAGAGAAGC	0.458000													35	78					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78411646	78411646	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:78411646C>G	ENST00000274353.5	+	2	197	c.90C>G	c.(88-90)gtC>gtG	p.V30V	BHMT_ENST00000524080.1_Silent_p.V30V|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	30	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGGGTTTGTCTTTGCACTGG	0.483000													18	53					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994029	143994029	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:143994029G>A	ENST00000323110.2	-	8	1317	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	439					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)	GGCACGTGGTGGAAGTTCCTG	0.647000									Familial Hyperaldosteronism type I				23	66					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89202754	89202754	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:89202754G>A	ENST00000554922.1	-	7	1251	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	EML5_ENST00000380664.5_Missense_Mutation_p.P335S|EML5_ENST00000352093.5_Missense_Mutation_p.P335S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	335						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTTTAGTAGGATGGACAGCA	0.383000													35	79					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58024990	58024990	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:58024990G>A	ENST00000341156.4	-	3	960	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Silent_p.L126L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000552350.1_Silent_p.L126L|B4GALNT1_ENST00000449184.3_Silent_p.L126L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	126					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TACCTCGACAGAAAGGCCTGG	0.587000													89	84					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121154517	121154517	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:121154517C>G	ENST00000344651.4	+	3	485	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	149										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCGGCATTTCTCCGCCTCCG	0.542000													79	49					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353000													33	74					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153433176	153433176	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:153433176C>G	ENST00000436816.1	+	3	1211	c.992C>G	c.(991-993)tCt>tGt	p.S331C	MFAP3_ENST00000322602.5_Missense_Mutation_p.S331C|MFAP3_ENST00000439768.2_Missense_Mutation_p.S185C	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	331						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		GATACAGAGTCTCAAGGCAGC	0.428000													22	51					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023321	76023321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:76023321G>A	ENST00000393004.2	-	5	2448	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	FILIP1_ENST00000370020.1_Nonsense_Mutation_p.Q644*|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Nonsense_Mutation_p.Q743*			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	743										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTGGAGCTGAGAAAGCTGA	0.368000													24	74					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183745	197183745	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:197183745C>T	ENST00000260983.3	-	9	2051	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	HECW2_ENST00000409111.1_Silent_p.E267E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGCTCACACTCTCTGTCCTGG	0.592000													5	22					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17030615	17030615	+	RNA	SNP	G	G	T	rs142646833	by1000genomes	TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:17030615G>T	ENST00000492551.1	-	0	720					NR_026567.1																						GATGGATCCCGGGAGAGCACG	0.617000													3	23					0.150653	0.151956	1	1	0
KLHDC7B	113730	broad.mit.edu	37	22	50987715	50987715	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr22:50987715G>A	ENST00000395676.2	+	1	1254	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	374								p.E275K(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTCCAACGAGGTCTTCTG	0.662000													15	40					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303838	151303838	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:151303838C>G	ENST00000370323.4	-	4	571	c.255G>C	c.(253-255)caG>caC	p.Q85H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	85										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGAGCACTCTGGGGAGGAT	0.547000													46	25					0	0	1	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669148	13669148	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:13669148C>T	ENST00000344998.3	-	4	1220	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	PRAMEF14_ENST00000334600.6_Silent_p.L394L|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	346										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGTCCTTCAGGGCACCCA	0.547000													24	74					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10092753	10092753	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:10092753C>G	ENST00000264828.3	-	32	2533	c.2448G>C	c.(2446-2448)gaG>gaC	p.E816D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	816	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACTTCCCTTTCTCTCCTATGG	0.537000													12	19					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104065673	104065673	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:104065673C>G	ENST00000265148.3	-	33	5049	c.4960G>C	c.(4960-4962)Gag>Cag	p.E1654Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1629Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1654					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTGGGTCTCAAATTGCTCC	0.348000													18	76					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452943	6452943	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:6452943G>A	ENST00000265983.3	-	9	1157	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	353	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATAATCCCATGAGGGGTCCCG	0.567000													27	58					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9519151	9519151	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:9519151C>G	ENST00000281419.3	+	19	2251	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L	ASAP2_ENST00000315273.4_Silent_p.L637L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	637					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCGAGTGCCTCAAGTTGCTCC	0.642000													3	24					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21765208	21765208	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:21765208C>G	ENST00000382254.1	-	12	2480	c.1394G>C	c.(1393-1395)aGt>aCt	p.S465T	CDH12_ENST00000522262.1_Splice_Site_p.S425T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.S465T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	465	Cadherin 4.				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						TAAAGGGTTACCTGTTAAAAA	0.299000										HNSCC(59;0.17)			10	26					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427737	37427737	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr13:37427737C>T	ENST00000379826.4	-	6	1421	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	SMAD9_ENST00000350148.5_Missense_Mutation_p.R323Q|SMAD9_ENST00000399275.2_Missense_Mutation_p.R360Q	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	360	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GTTGCAGTTCCGGCTCTGCAC	0.562000													6	21					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219617602	219617602	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:219617602C>G	ENST00000392102.1	+	17	3433	c.3093C>G	c.(3091-3093)atC>atG	p.I1031M	TTLL4_ENST00000258398.4_Missense_Mutation_p.I1031M|TTLL4_ENST00000442769.1_Missense_Mutation_p.I967M|TTLL4_ENST00000457313.1_Missense_Mutation_p.I866M	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1031					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTTCTCATATCTCCTCTCGCT	0.448000													38	81					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51486810	51486810	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:51486810G>T	ENST00000340438.4	+	1	330	c.88G>T	c.(88-90)Gat>Tat	p.D30Y		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	30					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCCGAGCGGGGATGGAGTCTC	0.662000													7	6					0.307466	0.308347	1	1	0
KRT20	54474	broad.mit.edu	37	17	39041282	39041282	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:39041282C>T	ENST00000167588.3	-	1	197	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	52	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CATAGTTCACCGTGTGTCTGG	0.582000													18	58					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128627063	128627063	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:128627063G>A	ENST00000308982.7	+	13	1395	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	438						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						ACATCGCCCTGACGGGTCTGC	0.612000													40	122					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33143401	33143401	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:33143401G>A	ENST00000341947.2	-	30	2553	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C	COL11A2_ENST00000357486.1_Missense_Mutation_p.R755C|COL11A2_ENST00000374708.4_Missense_Mutation_p.R690C|COL11A2_ENST00000361917.1_Missense_Mutation_p.R669C|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.R729C|COL11A2_ENST00000374714.1_Missense_Mutation_p.R750C|COL11A2_ENST00000374712.1_Missense_Mutation_p.R695C|COL11A2_ENST00000395197.1_Missense_Mutation_p.R716C	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	776	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCCAGTGCGTCCCTTTGGC	0.647000													40	18					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67036992	67036992	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:67036992C>T	ENST00000540947.2	+	6	894	c.710C>T	c.(709-711)tCg>tTg	p.S237L	CES4A_ENST00000326686.5_Missense_Mutation_p.S237L|CES4A_ENST00000535696.1_Missense_Mutation_p.S143L|CES4A_ENST00000540579.1_Missense_Mutation_p.S139L|CES4A_ENST00000338718.4_Missense_Mutation_p.S260L|CES4A_ENST00000398354.1_Missense_Mutation_p.S237L|CES4A_ENST00000541479.1_Missense_Mutation_p.S260L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	237						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCCTAGCCTCGGGTCTCTTC	0.547000													17	66					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100275518	100275518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:100275518C>G	ENST00000338687.7	-	10	1796	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	TRMT2B_ENST00000372936.3_Missense_Mutation_p.E376Q|TRMT2B_ENST00000372931.5_Missense_Mutation_p.E376Q|TRMT2B_ENST00000545398.1_Missense_Mutation_p.E376Q|TRMT2B_ENST00000372939.1_Missense_Mutation_p.E331Q|TRMT2B_ENST00000372935.1_Missense_Mutation_p.E376Q			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	376							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ACTGCCTGCTCCAACAATTCA	0.468000													38	32					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24469068	24469068	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:24469068G>C	ENST00000355123.4	-	29	3950	c.3507C>G	c.(3505-3507)atC>atG	p.I1169M	ITSN2_ENST00000361999.3_Missense_Mutation_p.I1142M|ITSN2_ENST00000406921.3_Missense_Mutation_p.I1169M	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1169	SH3 5.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCCCGTTGATCTCTCCTT	0.393000													27	69					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220091615	220091615	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:220091615A>C	ENST00000409618.1	-	5	627	c.188T>G	c.(187-189)cTc>cGc	p.L63R	ATG9A_ENST00000361242.4_Missense_Mutation_p.L63R|ATG9A_ENST00000396761.2_Missense_Mutation_p.L63R|ATG9A_ENST00000488833.1_5'UTR|ATG9A_ENST00000409422.1_Missense_Mutation_p.L2R			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	63					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCCCGATGAGCATACATGT	0.408000													8	44					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121914	13121914	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:13121914C>G	ENST00000319217.7	-	38	5302	c.5055G>C	c.(5053-5055)ttG>ttC	p.L1685F	MPDZ_ENST00000538841.1_Missense_Mutation_p.L544F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1699F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1652F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1685F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1685F|MPDZ_ENST00000536827.1_Missense_Mutation_p.L1652F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1685F|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1685	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCCTTTCTCAAGTCAATTC	0.483000													10	7					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696480	68696480	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:68696480G>C	ENST00000303145.7	-	12	1978	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C	MDM1_ENST00000411698.2_Missense_Mutation_p.S596C|MDM1_ENST00000540418.1_Missense_Mutation_p.S351C	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	631						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)		ATGTGGTGGAGAAGGCAACTG	0.428000													38	40					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702264	8702264	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:8702264C>A	ENST00000329805.4	-	1	403	c.175G>T	c.(175-177)Gct>Tct	p.A59S		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	59						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CAGAAGGCAGCGATTAGGTGC	0.652000													7	48					3.09899e-07	3.29679e-07	1	1	0
SMNDC1	10285	broad.mit.edu	37	10	112055130	112055130	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:112055130C>G	ENST00000369603.5	-	5	638	c.435G>C	c.(433-435)atG>atC	p.M145I	SMNDC1_ENST00000369592.1_Missense_Mutation_p.M145I	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1						apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GCTGGGCAATCATTTCTTTTC	0.353000													9	25					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330127	50330127	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:50330127G>C	ENST00000336089.4	-	2	177	c.178C>G	c.(178-180)Cca>Gca	p.P60A	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCCTCAGTGGAGCACCAAGG	0.647000													25	47					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	25					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50247423	50247423	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:50247423G>T	ENST00000298307.5	+	10	1747	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	KLHDC2_ENST00000557247.1_Intron|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D296Y	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	296						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGAATCAGGTGATGCCTGGAC	0.338000													22	76					5.45024e-15	5.97989e-15	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114886595	114886595	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:114886595C>A	ENST00000374270.3	-	6	1000	c.828G>T	c.(826-828)aaG>aaT	p.K276N	SUSD1_ENST00000374263.3_Missense_Mutation_p.K276N|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Missense_Mutation_p.K276N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	276	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CAGAAGTGATCTTTCCTCCAG	0.517000													93	76					1.55521e-42	1.74462e-42	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75927101	75927101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr8:75927101C>A	ENST00000262207.4	+	6	1149	c.681C>A	c.(679-681)tgC>tgA	p.C227*	CRISPLD1_ENST00000517786.1_Nonsense_Mutation_p.C41*|CRISPLD1_ENST00000523524.1_Nonsense_Mutation_p.C39*	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	227						extracellular region		p.C227C(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTCTGCTTGCCCACCTAGTT	0.438000													7	16					0.0581538	0.0591681	1	1	0
TRIP4	9325	broad.mit.edu	37	15	64698559	64698559	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:64698559C>G	ENST00000261884.3	+	6	788	c.728C>G	c.(727-729)tCt>tGt	p.S243C	TRIP4_ENST00000559565.1_Intron	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	243					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGGACATCTCTACCAAGGAC	0.403000													12	39					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024129	76024129	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:76024129G>C	ENST00000393004.2	-	5	1640	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V	FILIP1_ENST00000370020.1_Silent_p.V374V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.V473V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	473										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCGACTCTTGACCACCTCCA	0.368000													37	78					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182876	114182876	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:114182876G>C	ENST00000535401.1	+	5	736	c.472G>C	c.(472-474)Gac>Cac	p.D158H	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.D158H|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	158					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ACCCCCGGCTGACTGCGTGCT	0.637000													22	39					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877838	2877838	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:2877838G>A	ENST00000355842.3	+	3	1058		c.e3+1		ADD1_ENST00000513328.2_Splice_Site|ADD1_ENST00000446856.1_Splice_Site|ADD1_ENST00000398129.1_Splice_Site|ADD1_ENST00000264758.7_Splice_Site|ADD1_ENST00000398123.2_Splice_Site|ADD1_ENST00000503455.2_Splice_Site|ADD1_ENST00000398125.1_Splice_Site			P35611	ADDA_HUMAN	adducin 1 (alpha)						actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAAAGCCCTGTGAGAAGAGA	0.453000													3	20					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786735	45786735	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr21:45786735C>T	ENST00000397928.1	+	4	967	c.522C>T	c.(520-522)acC>acT	p.T174T	TRPM2_ENST00000300481.9_Silent_p.T174T|TRPM2_ENST00000397932.2_Silent_p.T174T|TRPM2_ENST00000300482.5_Silent_p.T174T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	174						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCGGTGACCGGGGGGGCCA	0.607000													6	29					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642049	207642049	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:207642049C>T	ENST00000367057.3	+	3	812	c.623C>T	c.(622-624)cCc>cTc	p.P208L	CR2_ENST00000458541.2_Missense_Mutation_p.P208L|CR2_ENST00000367058.3_Missense_Mutation_p.P208L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.P208L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	208	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCTGTCCCCCCCACATGTGAA	0.403000													28	78					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104065643	104065643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:104065643C>G	ENST00000265148.3	-	33	5079	c.4990G>C	c.(4990-4992)Gaa>Caa	p.E1664Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1639Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1664					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTCCGTTTCTATGTTTTCC	0.383000													19	83					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924415	70924415	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:70924415T>G	ENST00000603540.1	+	2	457	c.199T>G	c.(199-201)Ttt>Gtt	p.F67V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.F67V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	67					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TAGTCTGCGGTTTGGGGGCCA	0.532000													28	102					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195420	195420	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:195420C>G	ENST00000328278.3	+	2	1525	c.1497C>G	c.(1495-1497)ttC>ttG	p.F499L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	499										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGCAAGCTTTCAAAACTGCTC	0.478000													8	35					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259417	43259417	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:43259417C>T	ENST00000404209.4	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG8_ENST00000306511.4_Splice_Site_p.P237P|PSG8_ENST00000406636.3_Splice_Site_p.P115P|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Splice_Site_p.P144P	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	237						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGGGCAGCTTCGCTGTGTGGA	0.478000													43	154					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907711	65907711	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:65907711C>T	ENST00000321892.4	+	13	4150	c.4089C>T	c.(4087-4089)ctC>ctT	p.L1363L	BPTF_ENST00000424123.3_Silent_p.L1224L|BPTF_ENST00000306378.6_Silent_p.L1237L|BPTF_ENST00000335221.5_Silent_p.L1363L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1363					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAAACCGCTCATACAGGAGG	0.383000													15	40					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46288163	46288163	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:46288163C>T	ENST00000359930.4	-	20	3413	c.2562G>A	c.(2560-2562)aaG>aaA	p.K854K	SULF2_ENST00000484875.1_Silent_p.K854K|SULF2_ENST00000361612.4_Intron|SULF2_ENST00000467815.1_Silent_p.K851K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	854					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGAAGGTCTCTTCATTTCTG	0.408000													15	58					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													7	92					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1903022	1903022	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:1903022G>C	ENST00000358771.4	+	4	970	c.818G>C	c.(817-819)tGc>tCc	p.C273S	SIRPA_ENST00000400068.3_Missense_Mutation_p.C273S|SIRPA_ENST00000356025.3_Missense_Mutation_p.C273S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	273	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AATGTCACCTGCCAGGTGAGG	0.552000													11	39					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89873435	89873435	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:89873435G>A	ENST00000268124.5	-	3	1065	c.732C>T	c.(730-732)ctC>ctT	p.L244L	POLG_ENST00000442287.2_Silent_p.L244L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	244			L -> P (in MTDPS4A).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGGGGGATGAGGTCAGCCG	0.612000								DNA polymerases (catalytic subunits)					15	31					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887586	25887586	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:25887586G>T	ENST00000376351.3	+	11	3390	c.3031G>T	c.(3031-3033)Gtt>Ttt	p.V1011F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1011						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCCTTGGGAGGTTTATGACCT	0.483000													9	59					3.86212e-05	4.04713e-05	1	1	0
GNAI3	2773	broad.mit.edu	37	1	110134835	110134835	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:110134835A>C	ENST00000369851.4	+	8	1155	c.1045A>C	c.(1045-1047)Aag>Cag	p.K349Q		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	349					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAACAACTTAAAGGAATGTGG	0.363000													8	30					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250199	52250199	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr19:52250199C>T	ENST00000595042.1	-	3	190	c.49G>A	c.(49-51)Gct>Act	p.A17T	FPR1_ENST00000304748.4_Missense_Mutation_p.A17T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	17					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAGATACAGCAGGTGTCCCT	0.502000													7	27					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259780	151259780	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:151259780C>G	ENST00000368879.2	+	2	1111	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTAAAACATCCTGCGGGAAT	0.577000													9	32					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765194	141765194	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:141765194C>G	ENST00000475668.2	+	38	4598	c.4544C>G	c.(4543-4545)tCt>tGt	p.S1515C	MGAM_ENST00000549489.2_Missense_Mutation_p.S1515C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1515	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACATTTCCCTCTTCTGGCCGC	0.607000													5	10					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660928	233660928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:233660928C>T	ENST00000373566.3	+	15	1899	c.1702C>T	c.(1702-1704)Caa>Taa	p.Q568*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q377*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q568*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q546*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q567*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q546*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q540*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	546	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGGAGAAATTCAAGGCAAGTT	0.373000													12	42					0	0	1	0	0
DNAJB14	79982	broad.mit.edu	37	4	100844276	100844276	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:100844276C>G	ENST00000442697.2	-	3	526	c.372G>C	c.(370-372)ttG>ttC	p.L124F		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	124	J.				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)		AAGCTTTTTTCAAATCTTCAT	0.323000													3	28					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56857329	56857329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:56857329C>T	ENST00000370748.3	+	3	709	c.274C>T	c.(274-276)Cga>Tga	p.R92*	BEND6_ENST00000370750.2_Nonsense_Mutation_p.R92*|BEND6_ENST00000370745.1_Nonsense_Mutation_p.R92*|BEND6_ENST00000370746.3_Nonsense_Mutation_p.R92*			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	92										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAGCCGACTTCGACAGTCTTT	0.363000													31	99					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141489062	141489062	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:141489062C>T	ENST00000262999.3	-	2	271	c.196G>A	c.(196-198)Gta>Ata	p.V66I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	66					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TCTGTTTTTACCACAGCGGTG	0.542000													17	84					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943715	235943715	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:235943715G>C	ENST00000409212.1	+	3	576	c.69G>C	c.(67-69)ctG>ctC	p.L23L	SH3BP4_ENST00000392011.2_Silent_p.L23L|SH3BP4_ENST00000344528.4_Silent_p.L23L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	23					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGGGGACCCTGATTGACCTGA	0.557000													7	35					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30539269	30539269	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:30539269C>T	ENST00000326195.8	+	1	117	c.5C>T	c.(4-6)cCg>cTg	p.P2L	ABCF1_ENST00000376545.3_Missense_Mutation_p.P2L|ABCF1_ENST00000396515.4_Missense_Mutation_p.P2L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	2					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACCGCGATGCCGAAGGCGCCC	0.682000													5	8					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077151	56077151	+	Silent	SNP	T	T	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:56077151T>G	ENST00000373965.2	-	8	1150	c.756A>C	c.(754-756)acA>acC	p.T252T	PCDH15_ENST00000437009.1_Silent_p.T252T|PCDH15_ENST00000395440.1_Silent_p.T252T|PCDH15_ENST00000395432.2_Silent_p.T215T|PCDH15_ENST00000395430.1_Silent_p.T252T|PCDH15_ENST00000320301.6_Silent_p.T252T|PCDH15_ENST00000373955.1_Silent_p.T252T|PCDH15_ENST00000395446.1_Silent_p.T252T|PCDH15_ENST00000373957.3_Silent_p.T230T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Silent_p.T252T|PCDH15_ENST00000395442.1_Silent_p.T252T|PCDH15_ENST00000395433.1_Silent_p.T230T|PCDH15_ENST00000395438.1_Silent_p.T252T|PCDH15_ENST00000395445.1_Silent_p.T252T|PCDH15_ENST00000414778.1_Silent_p.T257T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	252	Cadherin 2.				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)				GAACATCCACTGTGAGAGTGG	0.468000										HNSCC(58;0.16)			25	78					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464276	141464276	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:141464276C>G	ENST00000247879.2	+	1	380	c.318C>G	c.(316-318)ctC>ctG	p.L106L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	106					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TTGGTGTCCTCTACTGCCTGA	0.463000													48	164					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898529	112898529	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr9:112898529G>T	ENST00000374530.3	+	8	885	c.705G>T	c.(703-705)gaG>gaT	p.E235D	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E235D|AKAP2_ENST00000434623.2_Missense_Mutation_p.E93D|AKAP2_ENST00000259318.7_Missense_Mutation_p.E4D|AKAP2_ENST00000555236.1_Missense_Mutation_p.E235D|AKAP2_ENST00000374525.1_Missense_Mutation_p.E93D|AKAP2_ENST00000510514.5_Missense_Mutation_p.E235D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		4							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGGAAATTGAGGTGTCTGTTG	0.502000													4	85					0.150653	0.151956	1	1	0
SCARB2	950	broad.mit.edu	37	4	77102213	77102213	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr4:77102213C>T	ENST00000264896.2	-	3	666	c.317G>A	c.(316-318)gGa>gAa	p.G106E	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	106					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TATTGTTGTTCCATTATCTCC	0.318000													11	52					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958144	41958144	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:41958144C>G	ENST00000269095.4	-	10	1369	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L	MPP2_ENST00000520305.1_Silent_p.L216L|MPP2_ENST00000536246.1_Silent_p.L344L|MPP2_ENST00000377184.3_Silent_p.L372L|MPP2_ENST00000461854.1_Silent_p.L379L|MPP2_ENST00000523501.1_Silent_p.L344L|MPP2_ENST00000518766.1_Silent_p.L400L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	379					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GAGCCCCAATCAGTACCAGGG	0.612000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532961	10532961	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:10532961G>C	ENST00000583535.1	-	40	5836	c.5749C>G	c.(5749-5751)Caa>Gaa	p.Q1917E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1917E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1917					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGTTGACTTGAGATTCTGCG	0.542000													14	41					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39594463	39594463	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:39594463C>T	ENST00000246646.3	-	6	1122	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	375	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCCGGATCTCAGACAGCTGC	0.612000													14	46					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5038544	5038544	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:5038544C>G	ENST00000574788.1	+	16	2740	c.510C>G	c.(508-510)ttC>ttG	p.F170L	USP6_ENST00000250066.6_Missense_Mutation_p.F170L|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.F170L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	170	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGAACTATTCTACATCCTCC	0.478000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								47	85					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623271	100623271	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:100623271G>A	ENST00000409236.2	-	5	808	c.696C>T	c.(694-696)acC>acT	p.T232T	AFF3_ENST00000317233.4_Silent_p.T232T|AFF3_ENST00000409579.1_Silent_p.T257T|AFF3_ENST00000356421.2_Silent_p.T257T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCACATACGCGGTCGGTTTCT	0.572000													9	27					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442228	89442228	+	RNA	SNP	C	C	T	rs1065532		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:89442228C>T	ENST00000492167.1	-	0	228																											GGCCAGGTTTCTGCTGGTACC	0.592000													18	59					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817481	26817481	+	Missense_Mutation	SNP	G	G	A	rs146998121		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:26817481G>A	ENST00000444914.3	+	3	808	c.388G>A	c.(388-390)Gag>Aag	p.E130K	SLC13A2_ENST00000537681.1_Missense_Mutation_p.E10K|SLC13A2_ENST00000314669.5_Missense_Mutation_p.E81K|SLC13A2_ENST00000545060.1_Missense_Mutation_p.E38K	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	81						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTGCCGTCGAGTATCTTAA	0.612000													36	86					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4014178	4014178	+	Splice_Site	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:4014178G>T	ENST00000404826.2	+	13	2133		c.e13+1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAAGTGATGTGAGTACTGA	0.547000													8	12					2.17888e-05	2.29011e-05	1	1	0
HOXB6	3216	broad.mit.edu	37	17	46674007	46674007	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:46674007C>T	ENST00000484302.2	-	3	1065	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.R148Q			P17509	HXB6_HUMAN	homeobox B6	148					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTGGCGGCCTCGCCGGCCGCT	0.652000													18	62					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70643024	70643024	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:70643024G>A	ENST00000449580.1	+	30	4558	c.4507G>A	c.(4507-4509)Gac>Aac	p.D1503N	TAF1_ENST00000423759.1_Missense_Mutation_p.D1524N|TAF1_ENST00000276072.3_Missense_Mutation_p.D1524N|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1503N			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1503	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGATGATGATGACCAAGTGGC	0.428000													27	35					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575823	49575823	+	Silent	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:49575823C>G	ENST00000244051.1	+	1	461	c.444C>G	c.(442-444)ctC>ctG	p.L148L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	148					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGCGCCGCCTCAATTCGGCAG	0.647000													11	45					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899528	53899528	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:53899528C>T	ENST00000552857.1	+	5	571	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	TARBP2_ENST00000394357.2_Silent_p.L258L|TARBP2_ENST00000266987.2_Silent_p.L279L|TARBP2_ENST00000456234.2_Silent_p.L258L			Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	0					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTGTCCCTCCGCAGTTGCT	0.627000													24	74					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178359	49178359	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:49178359C>G	ENST00000340334.7	-	16	1856	c.1488G>C	c.(1486-1488)agG>agC	p.R496S	FOLH1_ENST00000356696.3_Splice_Site_p.R511S|FOLH1_ENST00000533034.1_Splice_Site_p.R496S|FOLH1_ENST00000343844.4_Splice_Site_p.R203S|FOLH1_ENST00000256999.2_Splice_Site_p.R511S	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	511	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R511S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATTTGCTTATCCTTTTAGAGA	0.328000													18	77					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7222458	7222458	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:7222458C>G	ENST00000399464.2	-	22	3610	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	NEURL4_ENST00000315614.7_Missense_Mutation_p.E1197Q|NEURL4_ENST00000570460.1_Missense_Mutation_p.E1175Q|RP11-542C16.2_ENST00000575474.1_Silent_p.L12L	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGAGCCTCTCAGGCGCGCAG	0.572000													5	20					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96171543	96171543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:96171543C>T	ENST00000324765.8	+	8	1186	c.839C>T	c.(838-840)tCt>tTt	p.S280F	DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	280	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAATACTTTCTGCTATTTGC	0.318000													12	8					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42017268	42017268	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:42017268C>G	ENST00000395925.3	-	12	1785	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	567					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGAGATCTCAAGTGTGTTT	0.463000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816642	6816642	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:6816642C>T	ENST00000332601.3	-	1	486	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCATCCCTCAAAGGAGATT	0.473000													12	38					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183532	11183532	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:11183532C>A	ENST00000390675.2	-	1	474	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	135					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AGTAAAGGCCCCAACAGCATC	0.353000													20	30					4.35082e-09	4.71451e-09	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34838659	34838659	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:34838659G>A	ENST00000192788.5	+	18	3918	c.3747G>A	c.(3745-3747)ttG>ttA	p.L1249L	UHRF1BP1_ENST00000452449.2_Silent_p.L1249L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1249										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCTCAACTTTGAAGACTGGCC	0.493000													32	19					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265816	1265816	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:1265816C>T	ENST00000447027.1	+	31	7773	c.7715C>T	c.(7714-7716)tCc>tTc	p.S2572F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S2569F|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2569	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACACCCTCCTCCACTCCAGAG	0.652000													37	99					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132244484	132244484	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:132244484A>G	ENST00000260818.6	+	52	6339	c.6091A>G	c.(6091-6093)Aca>Gca	p.T2031A		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2031							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GACAATGGCAACAGTGTGTCT	0.433000													20	44					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74329093	74329093	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:74329093G>A	ENST00000409262.3	+	9	4773	c.4773G>A	c.(4771-4773)gaG>gaA	p.E1591E		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1591							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCAGGAGGAGGCTGCCCGGC	0.652000													11	17					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19222104	19222104	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr22:19222104C>T	ENST00000263200.10	-	7	1167	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	CLTCL1_ENST00000353891.5_Silent_p.V365V|CLTCL1_ENST00000427926.1_Silent_p.V365V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	365	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.V365V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGAATTTTCTCACAAACAACT	0.468000			T	?	ALCL								16	31					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981864	61981864	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr20:61981864G>A	ENST00000370263.4	-	5	1120	c.899C>T	c.(898-900)tCa>tTa	p.S300L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	300					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGACCAGTGAGGTGGACGG	0.592000													17	51					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88232494	88232494	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:88232494G>C	ENST00000298767.5	-	6	2240	c.1768C>G	c.(1768-1770)Caa>Gaa	p.Q590E		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	590	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCATCTTTTTGATTTGGTTCC	0.348000													11	49					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	118997669	118997669	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:118997669G>A	ENST00000350777.2	+	2	78	c.15G>A	c.(13-15)ggG>ggA	p.G5G	HINFP_ENST00000527410.1_Silent_p.G5G|HINFP_ENST00000527354.1_Intron	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	5					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGCCTCCTGGGAAAGTTCCCC	0.542000													11	57					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717298	73717298	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:73717298G>A	ENST00000264448.6	+	10	8320	c.8209G>A	c.(8209-8211)Gaa>Aaa	p.E2737K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2695K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2737					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						TGGTGTTACTGAAGGTAGCCA	0.413000													32	96					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													7	126					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417432	150417432	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr7:150417432G>A	ENST00000307194.5	+	3	480	c.340G>A	c.(340-342)Gcg>Acg	p.A114T		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGACCCCACGCGCTGCTCCT	0.622000													8	27					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105698	151105698	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr3:151105698G>A	ENST00000474524.1	+	35	5122	c.5084G>A	c.(5083-5085)cGa>cAa	p.R1695Q	MED12L_ENST00000273432.4_Missense_Mutation_p.R1555Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1695					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGACAGTCCGAGTGGACCGA	0.577000													7	39					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55223755	55223755	+	Silent	SNP	A	A	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:55223755A>G	ENST00000371279.3	-	2	1162	c.1080T>C	c.(1078-1080)tgT>tgC	p.C360C		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	360					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GCCAGCGGACACAGTCTTCTG	0.587000													14	57					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49343619	49343619	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:49343619C>G	ENST00000225298.7	+	3	589	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	178					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GAAAGACAACCTTAAAAAGAG	0.353000													14	61					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104026653	104026653	+	Silent	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:104026653G>C	ENST00000445922.2	-	2	1095	c.849C>G	c.(847-849)ctC>ctG	p.L283L	BAG5_ENST00000299204.4_Silent_p.L283L|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Silent_p.L324L	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	283	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCATTCTCTTGAGGACCTTTT	0.353000													19	83					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773034	80773034	+	Silent	SNP	C	C	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:80773034C>T	ENST00000466387.1	+	15	2110	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	CTNNA2_ENST00000343114.3_Silent_p.V141V|CTNNA2_ENST00000540488.1_Silent_p.V462V|CTNNA2_ENST00000402739.4_Silent_p.V462V|CTNNA2_ENST00000496558.1_Silent_p.V462V|CTNNA2_ENST00000361291.4_Silent_p.V496V|CTNNA2_ENST00000541047.1_Silent_p.V462V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	462					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACAAATAGGTCATCAATGCCG	0.493000													7	27					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070295	153070295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:153070295C>A	ENST00000164640.4	-	8	1014	c.823G>T	c.(823-825)Gag>Tag	p.E275*	PDZD4_ENST00000544474.1_Nonsense_Mutation_p.E166*|PDZD4_ENST00000393758.2_Nonsense_Mutation_p.E200*	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	275						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCAGCTCCTGGCTGTTG	0.647000													13	18					0.000151284	0.000157588	1	1	0
FADD	8772	broad.mit.edu	37	11	70052578	70052578	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:70052578G>C	ENST00000301838.4	+	2	923	c.626G>C	c.(625-627)tGa>tCa	p.*209S	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGCGTCCTGATGGGCCGCT	0.592000													8	25					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91247112	91247112	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:91247112G>A	ENST00000357056.2	-	3	536	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TTC7B_ENST00000328459.6_Missense_Mutation_p.R139W			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	139							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCGATCACCCGCAGCCTGTAG	0.572000													13	47					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88909388	88909388	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr12:88909388C>G	ENST00000228280.5	-	6	709	c.527G>C	c.(526-528)aGa>aCa	p.R176T	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Intron|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	176					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GACACTGACTCTGGAATCTAA	0.383000									Testicular Cancer, Familial Clustering of				12	30					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029855	68029855	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr11:68029855C>G	ENST00000304271.6	-	4	1010	c.608G>C	c.(607-609)aGa>aCa	p.R203T	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	203						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GGTTGCTGTTCTTGGCAACGC	0.602000													12	54					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841361	841361	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:841361G>A	ENST00000317063.6	+	9	1680	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	CHTF18_ENST00000262315.9_Silent_p.P365P|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Silent_p.P393P			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	365					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GCCAGCGACCGAAGCAGAAGG	0.667000													4	11					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207742	116207742	+	Silent	SNP	G	G	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:116207742G>A	ENST00000369252.4	-	15	1753	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	ABLIM1_ENST00000369253.2_Silent_p.I167I|ABLIM1_ENST00000277895.5_Silent_p.I544I|ABLIM1_ENST00000369266.3_Silent_p.I221I|ABLIM1_ENST00000392952.3_Silent_p.I221I|ABLIM1_ENST00000533213.2_Silent_p.I484I	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	544					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAAACTTGATGATATCTTCTG	0.542000													10	55					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73570954	73570954	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:73570954G>C	ENST00000392550.3	+	26	3175	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	LLGL2_ENST00000577200.1_Splice_Site|LLGL2_ENST00000167462.5_Missense_Mutation_p.Q1005H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	1020					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCTTCAGCAGAGTGAGTGGC	0.647000													27	60					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7024440	7024440	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr18:7024440C>A	ENST00000389658.3	-	18	2521	c.2428G>T	c.(2428-2430)Gat>Tat	p.D810Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	810	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCTCCATCATTGAGGTGG	0.433000													5	37					1.024e-07	1.09602e-07	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140235895	140235895	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:140235895C>G	ENST00000307360.5	+	1	262	c.262C>G	c.(262-264)Cgg>Ggg	p.R88G	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R88G|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATTGACCG	0.597000													47	151					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523445	2523445	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr1:2523445C>G	ENST00000288709.6	-	22	2302	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	MMEL1_ENST00000378412.3_Missense_Mutation_p.E697Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E540Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	697					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGCCACCCTCTGCCATCCAC	0.627000													16	27					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731335	24731335	+	Translation_Start_Site	SNP	G	G	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr14:24731335G>T	ENST00000544573.1	-	0	317				TGM1_ENST00000206765.6_Missense_Mutation_p.S75Y			P22735	TGM1_HUMAN	transglutaminase 1						cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCGAGTGCCAGAGCTGGACCC	0.647000													14	62					2.61681e-11	2.85322e-11	1	1	0
AC027612.3	0	broad.mit.edu	37	2	91887908	91887909	+	RNA	INS	-	-	C			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr2:91887908_91887909insC	ENST00000436174.1	-	0	540																											ATTTTCCATTTTTTTTTTTTTG	0.297													9	26	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115822486	115822486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr5:115822486delC	ENST00000343348.6	-	10	1708	c.921delG	c.(919-921)gggfs	p.G307fs	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.G307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.G307fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	307	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAACATCACGCCCGTTGATAC	0.478													26	85	---	---	---	---					
FOXQ1	94234	broad.mit.edu	37	6	1313296	1313297	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:1313296_1313297insCC	ENST00000296839.2	+	1	622_623	c.357_358insCC	c.(358-360)cccfs	p.P120fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	120					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGCGGCCCAAGCCCCCCTACTC	0.733													22	17	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													5	8	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	98	---	---	---	---					
HERC4	26091	broad.mit.edu	37	10	69773880	69773881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr10:69773880_69773881insT	ENST00000395198.3	-	9	1218_1219	c.971_972insA	c.(970-972)aatfs	p.N324fs	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Frame_Shift_Ins_p.N324fs|HERC4_ENST00000373700.4_Frame_Shift_Ins_p.N324fs|HERC4_ENST00000277817.6_Frame_Shift_Ins_p.N214fs	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	324					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCAGCTGCCCATTACCACCAAG	0.421													17	54	---	---	---	---					
FAM81A	145773	broad.mit.edu	37	15	59806568	59806568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr15:59806568delA	ENST00000288228.5	+	7	918	c.731delA	c.(730-732)gaafs	p.E244fs		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	244										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAACGGATAGAAAAAGAGCTT	0.328													16	40	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													4	2	---	---	---	---					
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs58108918		TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(34-36)acc>ACCTGCTGCAGGACCacc	p.12_12T>TCCRTT		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	12						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604													7	64	---	---	---	---					
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr17:43590674_43590675insA	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAAAAAAACAAAAAAAAAAC	0.332													4	4	---	---	---	---					
LRP5L	91355	broad.mit.edu	37	22	25753264	25753264	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chr22:25753264delT	ENST00000444995.3	-	5	1096	c.396delA	c.(394-396)gaafs	p.E132fs	LRP5L_ENST00000402785.2_Frame_Shift_Del_p.E132fs|LRP5L_ENST00000402859.2_Frame_Shift_Del_p.E132fs			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	132										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGAGCTTCCCTTCCTGCAGGT	0.627													18	73	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44938449	44938450	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-G2-AA3C-01A-21D-A391-08	TCGA-G2-AA3C-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47962bdc-bec8-4b02-9a16-4d15d8d7eda2	8a3f83f8-3492-4cc4-9aec-96de9244d424	g.chrX:44938449_44938450insGT	ENST00000377967.4	+	20	3038_3039	c.2997_2998insGT	c.(2998-3000)gtgfs	p.V1000fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.V921fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.V955fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.V1007fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1000					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.E999D(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATATGGTAGAAGTGAGGACACA	0.356			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	19	---	---	---	---					
