Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SUMF1	285362	broad.mit.edu	37	3	4452589	4452589	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:4452589C>T	uc003bpz.2	-	6	951	c.914G>A	c.(913-915)tGg>tAg	p.W305*	SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Nonsense_Mutation_p.W280*|SUMF1_uc010hby.2_Nonsense_Mutation_p.W305*|SUMF1_uc011ast.2_Nonsense_Mutation_p.W173*	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.	305						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AACAGTCCACCAGTCTGAAGT	0.453000														155			5		0	0	0.029380	0	0
CXorf66	347487	broad.mit.edu	37	X	139038312	139038312	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:139038312T>C	uc004fbb.3	-	2	851	c.829A>G	c.(829-831)Aaa>Gaa	p.K277E		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	277						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTATAAGTTTTGGCAACAAGA	0.398000														33			31		0	0	0.183431	0	0
ZNF208	7757	broad.mit.edu	37	19	22155506	22155506	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:22155506T>C	uc021urr.1	-	3	2479	c.2330A>G	c.(2329-2331)tAc>tGc	p.Y777C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.L776I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.363000														37			14		0	0	0.049695	0	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	A	A	rs115724540	byFrequency	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:156381695G>A	uc003lwh.2	-	1	188	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_uc010jii.2_Missense_Mutation_p.S44F	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000														42			45		0	0	0.139131	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:71238615G>A	uc001oqq.1	+	0	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	90	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647000														255			6		0	0	0.069234	0	0
PASD1	139135	broad.mit.edu	37	X	150773187	150773187	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:150773187T>A	uc004fev.4	+	2	430	c.98T>A	c.(97-99)tTc>tAc	p.F33Y		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	33	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATGATTACTTCAACCAAGTG	0.333000														92			4		0	0	0.014758	0	0
FRG1B	284802	broad.mit.edu	37	20	29624070	29624070	+	Missense_Mutation	SNP	G	A	A	rs79198850		TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr20:29624070G>A	uc010ztl.1	+	0	36	c.4G>A	c.(4-6)Gct>Act	p.A2T	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A32T(2)|p.R2M(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCAGTTTATGGCTGTCAAATT	0.279000														12			3		0	0	0.029380	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	T	T	rs1055042	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000														44			5		0	0	0.038147	0	0
CMYA5	202333	broad.mit.edu	37	5	79032476	79032476	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:79032476G>A	uc003kgc.3	+	1	7960	c.7888G>A	c.(7888-7890)Gag>Aag	p.E2630K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2630						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTTTTGGTGGAGAAAACCAA	0.428000														39			10		0	0	0.093190	0	0
MYO16	23026	broad.mit.edu	37	13	109704741	109704741	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr13:109704741G>T	uc010agk.2	+	24	3588	c.2966G>T	c.(2965-2967)gGa>gTa	p.G989V	MYO16_uc001vqt.1_Missense_Mutation_p.G967V|MYO16_uc001vqu.1_Missense_Mutation_p.G767V|MYO16_uc010tjh.1_Missense_Mutation_p.G479V	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	967	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament 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)			AAATTCCGAGGACATAAGTCT	0.373000														44			9		3.86212e-05	4.2286e-05	0.069234	1	0
KCNH2	3757	broad.mit.edu	37	7	150648643	150648643	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:150648643G>A	uc003wic.3	-	6	2239	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	KCNH2_uc003wib.3_Missense_Mutation_p.T273M|KCNH2_uc011kux.2_Missense_Mutation_p.T517M|KCNH2_uc003wid.3_Missense_Mutation_p.T273M|KCNH2_uc003wie.3_Missense_Mutation_p.T613M	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	613			T -> M (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGAGCGCCGTCACATACTT	0.587000														67			22		0	0	0.091800	0	0
KRT16	3868	broad.mit.edu	37	17	39766663	39766663	+	Nonsense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:39766663G>C	uc002hxg.4	-	5	1339	c.1200C>G	c.(1198-1200)taC>taG	p.Y400*	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	400	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCAAGATCTGGTACTCCTGGC	0.627000														112			50		0	0	0.139131	0	0
MSLNL	401827	broad.mit.edu	37	16	832011	832011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:832011C>T	uc002cjz.1	-	1	112	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCTGAGACGTCCCAGGGCAGG	0.662000														5			9		0	0	0.069234	0	0
PAIP1	10605	broad.mit.edu	37	5	43556095	43556095	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:43556095G>C	uc003job.3	-	1	519	c.272C>G	c.(271-273)aCg>aGg	p.T91R	PAIP1_uc003joa.3_Missense_Mutation_p.T12R|PAIP1_uc003joc.3_5'UTR	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	91	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CAGGGGCCTCGTTTGCTCTGC	0.458000														100			28		0	0	0.144211	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447026	74447026	+	Silent	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:74447026G>T	uc002fct.3	-	4	785	c.585C>A	c.(583-585)atC>atA	p.I195I	CLEC18B_uc002fcu.3_Silent_p.I195I|CLEC18B_uc010vmu.1_Silent_p.I115I|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	195						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TATAGGGGATGATTGTCTTCC	0.622000														204			18		3.8784e-16	4.61715e-16	0.062417	1	0
CSMD1	64478	broad.mit.edu	37	8	2824193	2824193	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:2824193G>T	uc022aqr.1	-	57	9389	c.8999C>A	c.(8998-9000)tCg>tAg	p.S3000*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.S2330*|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3001	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAGATGACCGAGCTGGAGAA	0.562000														73			18		2.44723e-14	2.86785e-14	0.099896	1	0
TRRAP	8295	broad.mit.edu	37	7	98557029	98557030	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98557029_98557030CC>TT	uc003upp.3	+	43	6593_6594	c.6384_6385CC>TT	c.(6382-6387)aacctt>aaTTtt	p.L2129F	TRRAP_uc011kis.2_Missense_Mutation_p.L2111F|TRRAP_uc003upr.3_Missense_Mutation_p.L1828F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2129	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGTGTGAACCTTCTGAAGAC	0.564000														57			23		0	0	0.115264	0	0
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:37027200A>C	uc004ddl.2	+	0	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637000														63			3		0	0	0.115264	0	0
MYOZ1	58529	broad.mit.edu	37	10	75394358	75394358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:75394358G>A	uc001jur.3	-	3	751	c.386C>T	c.(385-387)tCt>tTt	p.S129F		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	129	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTGCTGATCAGAGCCATACTG	0.657000														131			4		0	0	0.029380	0	0
MUC17	140453	broad.mit.edu	37	7	100680525	100680525	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100680525T>C	uc003uxp.1	+	2	5881	c.5828T>C	c.(5827-5829)aTc>aCc	p.I1943T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1943	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E1942*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAAATCAACACCCTT	0.498000														442			5		0	0	0.038147	0	0
CSMD1	64478	broad.mit.edu	37	8	2824186	2824186	+	Silent	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:2824186G>T	uc022aqr.1	-	57	9396	c.9006C>A	c.(9004-9006)atC>atA	p.I3002I	CSMD1_uc011kwj.2_Silent_p.I2332I|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3003	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGCATAGATGACCGAGC	0.547000														70			14		7.87624e-14	9.08797e-14	0.076483	1	0
TRRAP	8295	broad.mit.edu	37	7	98558955	98558955	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558955C>T	uc003upp.3	+	44	6749	c.6540C>T	c.(6538-6540)gtC>gtT	p.V2180V	TRRAP_uc011kis.2_Silent_p.V2162V|TRRAP_uc003upr.3_Silent_p.V1879V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2180	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAACTGTCCTCCAGTCCC	0.547000														112			26		0	0	0.125774	0	0
BBX	56987	broad.mit.edu	37	3	107524293	107524293	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:107524293G>A	uc010hpr.3	+	17	3142	c.2815G>A	c.(2815-2817)Gct>Act	p.A939T	BBX_uc003dwk.4_Missense_Mutation_p.A909T|BBX_uc003dwl.4_Silent_p.A602A|BBX_uc003dwm.4_Missense_Mutation_p.A909T|BBX_uc003dwo.4_Silent_p.A255A	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TATTTCCTGCGCTGACCAGTG	0.468000														83			9		0	0	0.058154	0	0
SI	6476	broad.mit.edu	37	3	164786518	164786518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:164786518G>A	uc003fei.3	-	4	538	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	159	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R159G(2)|p.R159R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTTGAACCGGAAACGATTG	0.423000										HNSCC(35;0.089)				73			19		0	0	0.055883	0	0
PDSS1	23590	broad.mit.edu	37	10	27009216	27009216	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:27009216C>T	uc001isv.3	+	5	583	c.537C>T	c.(535-537)caC>caT	p.H179H	PDSS1_uc001isw.3_Silent_p.H179H	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	179					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GTCTGGTTCACGATGACGTTA	0.398000														30			26		0	0	0.125774	0	0
HTR3B	9177	broad.mit.edu	37	11	113813867	113813867	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:113813867A>C	uc001pok.3	+	6	998	c.860A>C	c.(859-861)aAc>aCc	p.N287T	HTR3B_uc001pol.3_Missense_Mutation_p.N276T	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	287					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTCAGGGTCAACATGTCCAAC	0.572000														32			9		0	0	0.069234	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540344	169540344	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:169540344G>T	uc003fgb.3	+	0	635	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	212										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CACCTGACGGGGCTGCAGAAG	0.527000														120			21		3.5997e-14	4.1857e-14	0.069288	1	0
TXNRD2	10587	broad.mit.edu	37	22	19918614	19918614	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:19918614C>G	uc021wlj.1	-	1	144	c.111G>C	c.(109-111)caG>caC	p.Q37H	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.Q36H|TXNRD2_uc010grv.1_Missense_Mutation_p.Q37H|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Missense_Mutation_p.Q5H	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	37					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CATAGTCCCGCTGACCTGCTG	0.532000														153			16		0	0	0.049695	0	0
LOC643486	643486	broad.mit.edu	37	X	95592522	95592522	+	RNA	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:95592522T>C	uc010nmx.3	-	0		c.380A>G								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		TGTCTTTTGTTCCAAATGTCT	0.383000														10			11		0	0	0.105934	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:37027156C>G	uc004ddl.2	+	0	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000														65			3		0	0	0.150653	0	0
RIMS3	9783	broad.mit.edu	37	1	41107425	41107425	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:41107425C>A	uc001cfu.1	-	2	638	c.173G>T	c.(172-174)gGc>gTc	p.G58V	RIMS3_uc001cfv.1_Missense_Mutation_p.G58V	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	58					neurotransmitter transport	cell junction|synapse		p.V57>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CTGAGTCAGGCCCACGATGGC	0.652000														63			23		2.48779e-11	2.82704e-11	0.108266	1	0
SH2D3C	10044	broad.mit.edu	37	9	130504196	130504196	+	Silent	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:130504196G>T	uc004bsc.3	-	8	2101	c.1959C>A	c.(1957-1959)ggC>ggA	p.G653G	SH2D3C_uc010mxo.3_Silent_p.G493G|SH2D3C_uc004bry.3_Silent_p.G495G|SH2D3C_uc004brz.4_Silent_p.G299G|SH2D3C_uc011mak.2_Silent_p.G299G|SH2D3C_uc004bsb.3_Silent_p.G585G|SH2D3C_uc004bsa.3_Silent_p.G496G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	653	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	p.G653G(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCCGGTGCAGCCCAGGATGT	0.687000														34			6		5.9392e-07	6.64836e-07	0.021553	1	0
TRRAP	8295	broad.mit.edu	37	7	98558887	98558887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558887C>T	uc003upp.3	+	44	6681	c.6472C>T	c.(6472-6474)Cag>Tag	p.Q2158*	TRRAP_uc011kis.2_Nonsense_Mutation_p.Q2140*|TRRAP_uc003upr.3_Nonsense_Mutation_p.Q1857*	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2158	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGCAGGAGCAGCCAAACCA	0.473000														130			23		0	0	0.064281	0	0
CEP57	9702	broad.mit.edu	37	11	95546701	95546701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:95546701G>A	uc001pfp.2	+	3	690	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CEP57_uc001pfo.2_Missense_Mutation_p.R151Q|CEP57_uc009ywn.2_5'UTR|CEP57_uc010ruh.2_Missense_Mutation_p.R142Q|CEP57_uc001pfq.2_Missense_Mutation_p.R151Q|CEP57_uc001pfr.2_5'UTR	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	151	centrosome localization domain (CLD) (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAATACATGCGAAATATGATA	0.343000									Mosaic Variegated Aneuploidy Syndrome					39			5		0	0	0.021553	0	0
ANK1	286	broad.mit.edu	37	8	41525969	41525969	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:41525969G>A	uc003xok.3	-	38	5294	c.5210C>T	c.(5209-5211)aCc>aTc	p.T1737I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.T891I|ANK1_uc003xoi.3_Missense_Mutation_p.T1737I|ANK1_uc003xoj.3_Missense_Mutation_p.T1737I|ANK1_uc003xol.3_Missense_Mutation_p.T1575I|ANK1_uc003xom.3_Missense_Mutation_p.T1778I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1737	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCAGTCATGGTACTTGTTCC	0.557000														66			25		0	0	0.125774	0	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118943	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:3118942_3118943AG>TT	uc002lxd.3	+	4	868_869	c.626_627AG>TT	c.(625-627)cag>cTT	p.Q209L	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	209					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(217)|p.Q209P(6)|p.Q209K(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAGC	0.614000			Mis		uveal melanoma									67			18		0	0	0.115264	0	0
OR51M1	390059	broad.mit.edu	37	11	5411106	5411106	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:5411106G>A	uc010qzc.2	+	0	500	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	160						integral to membrane	olfactory receptor activity	p.V160A(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCTAATTGTCATCTTCCG	0.542000														136			51		0	0	0.139131	0	0
CTAG2	30848	broad.mit.edu	37	X	153880704	153880704	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:153880704G>A	uc004fmi.2	-	1	535	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	157						centrosome		p.G156E(1)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGGGAGGCGGATCCCAGCC	0.622000														220			5		0	0	0.014758	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999153	27999153	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:27999153C>A	uc004dbx.1	-	0	414	c.299G>T	c.(298-300)aGg>aTg	p.R100M		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	100	Glu-rich.							p.E99K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ttcctcctccCTTTCTGTCTC	0.483000														43			24		1.96895e-08	2.22062e-08	0.076483	1	0
MAN2A1	4124	broad.mit.edu	37	5	109191010	109191010	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:109191010T>G	uc003kou.1	+	19	4109	c.3146T>G	c.(3145-3147)gTt>gGt	p.V1049G		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	1049					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATTCATCTGGTTAATTTGAGA	0.358000														21			7		0	0	0.038147	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														14			4		0	0	0.029380	0	0
C9orf174	100499483	broad.mit.edu	37	9	100124130	100124130	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:100124130G>A	uc011lut.2	+	40	5161	c.4155G>A	c.(4153-4155)ggG>ggA	p.G1385G	C9orf174_uc004axe.2_Silent_p.G1217G|C9orf174_uc011lus.2_Silent_p.G1035G|C9orf174_uc004axg.2_Silent_p.G1246G|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1217						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GCCGCGTGGGGAAGCCCCTGA	0.617000														38			11		0	0	0.105934	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050152	120050152	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:120050152G>A	uc001ehv.1	+	1	198	c.53G>A	c.(52-54)aGg>aAg	p.R18K		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	18					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGGGACAGAGGATCATCCGC	0.517000														72			51		0	0	0.139131	0	0
BRE	9577	broad.mit.edu	37	2	28352238	28352238	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:28352238G>C	uc002rls.3	+	6	923	c.671G>C	c.(670-672)cGa>cCa	p.R224P	BRE_uc002rlp.1_Missense_Mutation_p.R224P|BRE_uc002rlq.3_Missense_Mutation_p.R224P|BRE_uc002rlr.3_Missense_Mutation_p.R224P|BRE_uc002rlt.3_Missense_Mutation_p.R224P|BRE_uc002rlu.3_Missense_Mutation_p.R224P|BRE_uc002rlv.3_Missense_Mutation_p.R86P	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	224					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTGTCACCTCGAATTGAGCAG	0.448000														65			28		0	0	0.064281	0	0
NFATC2	4773	broad.mit.edu	37	20	50049132	50049132	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr20:50049132G>A	uc002xwd.3	-	8	2414	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	NFATC2_uc002xwc.3_Missense_Mutation_p.R732C|NFATC2_uc010zyv.2_Missense_Mutation_p.R513C|NFATC2_uc010zyw.2_Missense_Mutation_p.R513C|NFATC2_uc002xwe.3_Missense_Mutation_p.R712C|NFATC2_uc010zyx.2_Missense_Mutation_p.R712C|NFATC2_uc010zyy.2_Missense_Mutation_p.R513C|NFATC2_uc010zyz.2_Missense_Mutation_p.R513C	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	732					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGCCCCGTGCGGAACTGCTGG	0.682000														22			3		0	0	0.115264	0	0
DRD5	1816	broad.mit.edu	37	4	9784092	9784092	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:9784092C>T	uc003gmb.4	+	0	835	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	147					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGGCCCTTCCGCTACAAGCG	0.597000														24			10		0	0	0.069234	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000														113			6		0	0	0.038147	0	0
ATRX	546	broad.mit.edu	37	X	76931728	76931728	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:76931728C>A	uc004ecp.4	-	9	4034	c.3802G>T	c.(3802-3804)Gag>Tag	p.E1268*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E1230*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1053*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E1200*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1268					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACCTATTCTCAGGATCATTG	0.398000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							52			22		1.77063e-15	2.0913e-15	0.108266	1	0
LOC100132247	0	broad.mit.edu	37	16	21854779	21854779	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:21854779C>T	uc002djr.3	-	5	655	c.473G>A	c.(472-474)cGt>cAt	p.R158H	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.R139H|LOC100132247_uc010vbn.1_Missense_Mutation_p.R158H	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		CTTCCTCTTACGGATTTTAGC	0.383000														68			13		0	0	0.160694	0	0
MASP1	5648	broad.mit.edu	37	3	186974605	186974605	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:186974605G>A	uc003frh.2	-	4	981	c.591C>T	c.(589-591)atC>atT	p.I197I	MASP1_uc003fri.3_Silent_p.I197I|MASP1_uc003frj.3_Silent_p.I166I|MASP1_uc003frk.2_Silent_p.I197I|MASP1_uc011bse.2_Silent_p.I171I	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	197	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGGCTGGTGATCACCCCAG	0.512000														75			23		0	0	0.173368	0	0
MTAP	4507	broad.mit.edu	37	9	21859395	21859395	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:21859395G>A	uc003zph.3	+	6	897	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.E279K|MTAP_uc011lnl.2_Missense_Mutation_p.E195K	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	262					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AGGGTCCACAGAATGGTCAGA	0.443000														52			10		0	0	0.080935	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688986	153688986	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:153688986A>G	uc004flm.3	+	1	636	c.463A>G	c.(463-465)Att>Gtt	p.I155V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	155	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGGTGTCATTGTGGAGCA	0.637000														177			34		0	0	0.064281	0	0
FANK1	92565	broad.mit.edu	37	10	127686010	127686010	+	Silent	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:127686010T>C	uc009yan.3	+	6	677	c.573T>C	c.(571-573)tcT>tcC	p.S191S	FANK1_uc001ljh.4_Silent_p.S165S|FANK1_uc001lji.3_Silent_p.S159S	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	165						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCCTAGTTTCTAATGGCACAG	0.408000														98			13		0	0	0.132662	0	0
GABRB2	2561	broad.mit.edu	37	5	160886792	160886792	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:160886792T>C	uc003lys.1	-	4	514	c.296A>G	c.(295-297)aAt>aGt	p.N99S	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.N99S|GABRB2_uc003lyt.1_Missense_Mutation_p.N99S|GABRB2_uc021yhg.1_Missense_Mutation_p.N36S|GABRB2_uc011dei.1_Missense_Mutation_p.N99S	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	99					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.Y98C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTATTACATTATAGGACAG	0.408000														37			10		0	0	0.132662	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:40580666T>C	uc010xvh.2	-	5	1834	c.1686A>G	c.(1684-1686)gaA>gaG	p.E562E	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.E561E|ZNF780A_uc002omz.3_Silent_p.E561E	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388000														236			4		0	0	0.029380	0	0
DCST2	127579	broad.mit.edu	37	1	155001826	155001826	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:155001826T>C	uc001fgm.3	-	7	1305	c.1225A>G	c.(1225-1227)Acc>Gcc	p.T409A	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	409						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGTTGAAGGTCTCCAGAATG	0.552000														90			3		0	0	0.014758	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200441	174200441	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:174200441T>C	uc001gjx.3	+	3	767	c.490T>C	c.(490-492)Tac>Cac	p.Y164H	RABGAP1L_uc009wwq.2_Missense_Mutation_p.Y164H|RABGAP1L_uc001gjw.3_Missense_Mutation_p.Y127H	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	164	PID.				regulation of protein localization	Golgi apparatus|early endosome|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						TTCCAGTCAATACCCCTTTCC	0.388000														239			40		0	0	0.139131	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295916	120295916	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:120295916C>T	uc001eid.3	-	6	1369	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	HMGCS2_uc010oxj.2_Silent_p.Q385Q|HMGCS2_uc021osw.1_Silent_p.Q193Q	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	427					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAGCAGCATCCTGGGATACTC	0.498000														46			4		0	0	0.014758	0	0
NISCH	11188	broad.mit.edu	37	3	52514200	52514200	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:52514200G>A	uc003ded.4	+	13	1551	c.1417_splice	c.e13-1	p.G473_splice	NISCH_uc003dec.1_Splice_Site_p.G473_splice	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	473	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCGTCCTCAGGGTGGTGAAGA	0.657000														109			29		0	0	0.134883	0	0
AKAP9	10142	broad.mit.edu	37	7	91631838	91631838	+	Silent	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:91631838T>C	uc003ulg.3	+	7	2832	c.2607T>C	c.(2605-2607)gcT>gcC	p.A869A	AKAP9_uc003ule.2_Silent_p.A881A|AKAP9_uc003ulf.3_Silent_p.A869A|AKAP9_uc003uli.3_Silent_p.A494A	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	881	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAGTATGCTTGCCTTCTCA	0.303000			T	BRAF	papillary thyroid									41			7		0	0	0.047766	0	0
OR1A2	26189	broad.mit.edu	37	17	3101369	3101369	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:3101369A>T	uc002fvd.1	+	0	557	c.557A>T	c.(556-558)aAg>aTg	p.K186M		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTTTGCTGAAGTTGTCCTGT	0.463000														64			32		0	0	0.173368	0	0
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:131976198A>G	uc002tsn.2	+	0	275	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587000														160			3		0	0	0.150653	0	0
CHODL	140578	broad.mit.edu	37	21	19635164	19635164	+	Missense_Mutation	SNP	A	T	T	rs142087135	byFrequency	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr21:19635164A>T	uc002ykv.3	+	4	1082	c.691A>T	c.(691-693)Ata>Tta	p.I231L	CHODL_uc002ykr.3_Missense_Mutation_p.I190L|CHODL_uc002yks.3_Missense_Mutation_p.I190L|CHODL_uc021whr.1_Missense_Mutation_p.I190L|CHODL_uc002ykt.3_Intron|CHODL_uc002yku.3_Intron|CHODL_uc021whs.1_Missense_Mutation_p.I212L	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	231					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GCTCTTACTGATACTGGTTGC	0.323000														68			29		0	0	0.104719	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961290	51961290	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:51961290C>A	uc002pwt.3	-	0	419	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	SIGLEC8_uc010yda.2_Missense_Mutation_p.D118Y|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D118Y	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	118	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACCCCTTATCCCTCTTCCTG	0.488000														158			8		6.40141e-05	6.908e-05	0.080935	1	0
ZNF214	7761	broad.mit.edu	37	11	7023947	7023947	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:7023947C>T	uc009yfh.1	-	1	419	c.120G>A	c.(118-120)atG>atA	p.M40I	ZNF214_uc001mfa.2_Missense_Mutation_p.M40I|ZNF214_uc010ray.1_Missense_Mutation_p.M40I	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TACCTACTGACATGACATTTG	0.378000														88			31		0	0	0.069456	0	0
KLC2	64837	broad.mit.edu	37	11	66029609	66029609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:66029609G>A	uc010rov.1	+	3	718	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	KLC2_uc010row.1_Missense_Mutation_p.V159I|KLC2_uc001ohb.2_Missense_Mutation_p.V159I|KLC2_uc010rox.1_Missense_Mutation_p.V82I|KLC2_uc001ohc.2_Missense_Mutation_p.V159I|KLC2_uc001ohd.2_Missense_Mutation_p.V82I|KLC2_uc001ohe.1_Missense_Mutation_p.V20I	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	159					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAGGGGGACGTCCCCAAAGA	0.602000														54			12		0	0	0.132662	0	0
TEK	7010	broad.mit.edu	37	9	27206675	27206675	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:27206675C>T	uc011lno.2	+	13	2773	c.2331C>T	c.(2329-2331)gaC>gaT	p.D777D	TEK_uc003zqi.4_Silent_p.D820D|TEK_uc011lnp.2_Silent_p.D672D|TEK_uc003zqj.1_Silent_p.D754D	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	820					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGTGCTTGACTGGAATGACA	0.478000														44			12		0	0	0.119110	0	0
CDK17	5128	broad.mit.edu	37	12	96680478	96680478	+	Missense_Mutation	SNP	C	T	T	rs147593071		TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:96680478C>T	uc001tep.2	-	11	1812	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	CDK17_uc009ztk.3_Missense_Mutation_p.V394M|CDK17_uc010svb.2_Missense_Mutation_p.V341M	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	394	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TCATCTTCCACGGTTGATCCT	0.363000														58			17		0	0	0.062417	0	0
OTP	23440	broad.mit.edu	37	5	76932909	76932909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:76932909C>T	uc003kfg.3	-	1	332	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTGGTGATGTCCTCCCCGGGC	0.731000														9			7		0	0	0.058154	0	0
GRB14	2888	broad.mit.edu	37	2	165365354	165365354	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:165365354C>T	uc002ucl.3	-	6	1366	c.825G>A	c.(823-825)cgG>cgA	p.R275R	GRB14_uc010zcv.2_Silent_p.R188R	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	275	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.R275R(2)|p.P274L(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACTGCAAATGCCGCGGTTCCT	0.323000														21			50		0	0	0.139131	0	0
DDX23	9416	broad.mit.edu	37	12	49230029	49230029	+	Silent	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:49230029A>G	uc001rsm.3	-	10	1348	c.1257T>C	c.(1255-1257)cgT>cgC	p.R419R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	419						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GAATTGCCTGACGCTGTATAG	0.512000														194			4		0	0	0.021553	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679892	36679892	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:36679892C>T	uc003jkj.4	+	6	1500	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SLC1A3_uc011cox.2_Missense_Mutation_p.R235W|SLC1A3_uc010iuy.3_Missense_Mutation_p.R342W	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	342					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R342W(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CTTGGTAACACGGAAAAACCC	0.488000														46			28		0	0	0.125774	0	0
USH1C	10083	broad.mit.edu	37	11	17548358	17548358	+	Splice_Site	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:17548358C>G	uc001mnf.3	-	7	631	c.522_splice	c.e7-1	p.S174_splice	USH1C_uc001mne.3_Splice_Site_p.S174_splice|USH1C_uc009yhb.3_Splice_Site_p.S174_splice|USH1C_uc001mng.3_Splice_Site|USH1C_uc001mnd.3_Splice_Site_p.S138_splice	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	174					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATCAGGAGAGCTGATGGGAAG	0.557000														27			13		0	0	0.105934	0	0
ALK	238	broad.mit.edu	37	2	30142966	30142966	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:30142966A>T	uc002rmy.3	-	0	1512	c.560T>A	c.(559-561)aTc>aAc	p.I187N		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	187					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCAGGCGGATCCTCAGTCG	0.652000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					30			7		0	0	0.029380	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:57187725G>T	uc010kzo.3	-	4	1668	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000														202			4		0.00909568	0.00934488	0.150653	1	0
ITGB5	3693	broad.mit.edu	37	3	124492548	124492548	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:124492548G>A	uc003eho.3	-	10	2202	c.1905C>T	c.(1903-1905)tgC>tgT	p.C635C	ITGB5_uc010hrx.3_Non-coding_Transcript|ITGB5_uc003ehp.1_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	635					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCTTGGTGCTGCATGCATCCG	0.657000														66			13		0	0	0.160694	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677020	36677020	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:36677020C>G	uc003jkj.4	+	5	1070	c.594C>G	c.(592-594)agC>agG	p.S198R	SLC1A3_uc011cox.2_Missense_Mutation_p.S91R|SLC1A3_uc010iuy.3_Missense_Mutation_p.S198R	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	198					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S198N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGAAGAGAAGCTTTAAAGTGC	0.378000														12			3		0	0	0.115264	0	0
TRRAP	8295	broad.mit.edu	37	7	98558973	98558973	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558973C>T	uc003upp.3	+	44	6767	c.6558C>T	c.(6556-6558)atC>atT	p.I2186I	TRRAP_uc011kis.2_Silent_p.I2168I|TRRAP_uc003upr.3_Silent_p.I1885I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2186	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCAGCCATCCTCAGTAGCT	0.557000														102			24		0	0	0.083992	0	0
KIAA0146	23514	broad.mit.edu	37	8	48626202	48626202	+	Splice_Site	SNP	A	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:48626202A>T	uc003xqd.3	+	16	2403	c.2341_splice	c.e16+1	p.G781_splice	KIAA0146_uc011ldc.2_Splice_Site_p.G711_splice|KIAA0146_uc011ldd.2_Splice_Site_p.G721_splice|KIAA0146_uc003xqe.3_Splice_Site_p.G256_splice|KIAA0146_uc003xqf.3_Splice_Site|KIAA0146_uc010lxt.3_Splice_Site_p.G470_splice|KIAA0146_uc011ldf.2_Splice_Site_p.G286_splice|KIAA0146_uc011ldg.2_Splice_Site_p.G271_splice|KIAA0146_uc003xqg.1_Splice_Site	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	781										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				GCAGTGTTCAAGGTAGGCAGC	0.463000														66			9		0	0	0.058154	0	0
PXDNL	137902	broad.mit.edu	37	8	52232505	52232505	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:52232505G>A	uc003xqu.4	-	22	4439	c.4338C>T	c.(4336-4338)tgC>tgT	p.C1446C	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1446	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAACTGGACAGCAGGTTCCTT	0.512000														44			3		0	0	0.150653	0	0
PWP1	11137	broad.mit.edu	37	12	108098446	108098446	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:108098446T>A	uc001tmo.1	+	10	1086	c.999T>A	c.(997-999)gaT>gaA	p.D333E		NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	333					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGTCCAGATGAAAGCCATC	0.398000														71			27		0	0	0.163468	0	0
CNTN5	53942	broad.mit.edu	37	11	99690276	99690276	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:99690276G>A	uc001pga.3	+	4	560	c.56_splice	c.e4-1	p.E19_splice	CNTN5_uc009ywv.2_Splice_Site_p.E19_splice|CNTN5_uc001pfz.3_Splice_Site_p.E19_splice|CNTN5_uc021qpb.1_Splice_Site_p.E19_splice|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	19					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTTACAGAGTATTCAAAAT	0.308000														47			8		0	0	0.080935	0	0
EPHB1	2047	broad.mit.edu	37	3	134977926	134977926	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:134977926G>T	uc003eqt.3	+	15	3294	c.2919G>T	c.(2917-2919)agG>agT	p.R973S	EPHB1_uc003equ.3_Missense_Mutation_p.R534S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	973	SAM.		R -> W (in dbSNP:rs1042784).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTATGAGGGTCCAGATAA	0.502000														16			9		0.00136819	0.0014252	0.093190	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000														117			5		0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	C	C	rs121912666		TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				6			31		0	0	0.092188	0	0
HHLA2	11148	broad.mit.edu	37	3	108072520	108072520	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:108072520C>T	uc003dwz.3	+	3	725	c.311C>T	c.(310-312)gCg>gTg	p.A104V	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.A104V|HHLA2_uc003dwy.4_Missense_Mutation_p.A104V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	104	Ig-like V-type 1.					integral to membrane		p.A104V(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AATGGGAATGCGTCGCTATTT	0.403000														33			8		0	0	0.038147	0	0
AKAP3	10566	broad.mit.edu	37	12	4736477	4736477	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:4736477C>T	uc001qnb.4	-	3	1835	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	531					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGAAGCAGGGCAGACACGATC	0.512000														148			4		0	0	0.021553	0	0
ADH7	131	broad.mit.edu	37	4	100349726	100349726	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:100349726T>A	uc003huv.2	-	2	459	c.218A>T	c.(217-219)aAg>aTg	p.K73M	ADH7_uc021xqj.1_Missense_Mutation_p.K81M	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	73					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACTGGAAACTTGGACACCAT	0.438000														79			32		0	0	0.086207	0	0
CROT	54677	broad.mit.edu	37	7	87011494	87011494	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:87011494G>T	uc003uiu.3	+	12	1496	c.1251G>T	c.(1249-1251)agG>agT	p.R417S	CROT_uc003uit.3_Missense_Mutation_p.R389S	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	389	Coenzyme A binding (By similarity).				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.R389R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGTATCTCAGGGAGGTATATT	0.343000														31			7		5.18039e-06	5.75599e-06	0.038147	1	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														31			3		0	0	0.115264	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518454	161518454	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:161518454C>A	uc001gar.3	-	2	368	c.184G>T	c.(184-186)Gct>Tct	p.A62S	FCGR3A_uc001gas.3_Missense_Mutation_p.A61S|FCGR3A_uc001gat.4_Missense_Mutation_p.A26S|FCGR3A_uc009wuh.3_Missense_Mutation_p.A25S|FCGR3A_uc009wui.3_Missense_Mutation_p.A26S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	26	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACACCACAGCCTTTGGGAGA	0.557000														104			10		2.68362e-12	3.07285e-12	0.093190	1	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														77			5		0	0	0.014758	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660735	100660735	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:100660735C>G	uc009ztv.1	-	0	123	c.120G>C	c.(118-120)agG>agC	p.R40S	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.R40S|DEPDC4_uc001thj.1_Missense_Mutation_p.R40S|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	40					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CTCTACGGTTCCTGGAACTTG	0.582000														90			33		0	0	0.086207	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522057	49522057	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:49522057C>A	uc001rtm.3	-	3	1261	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	TUBA1B_uc021qxn.1_Missense_Mutation_p.C145F|TUBA1B_uc001rtl.3_Missense_Mutation_p.C312F|TUBA1A_uc010smg.1_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	347					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCCAGTGGGGCACCAATCCAC	0.557000														64			7		0.000157383	0.000167429	0.038147	1	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000														67			3		0	0	0.150653	0	0
TEKT5	146279	broad.mit.edu	37	16	10788486	10788486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:10788486C>T	uc002czz.1	-	0	317	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	82					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAGTGCGGAGCGCAGTGTGGG	0.667000														46			25		0	0	0.108266	0	0
SPTBN4	57731	broad.mit.edu	37	19	41078018	41078018	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:41078018G>A	uc002ony.3	+	33	7499	c.7413G>A	c.(7411-7413)ggG>ggA	p.G2471G	SPTBN4_uc002onz.3_Silent_p.G2471G|SPTBN4_uc010egx.3_Silent_p.G1214G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2471	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACACGGTGGGGAACCGCTGC	0.597000														246			4		0	0	0.150653	0	0
WASH3P	374666	broad.mit.edu	37	15	102516373	102516373	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr15:102516373C>T	uc002cdi.3	+	10	2119	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P432P(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGAGGGGCCCGGAGGAGCCT	0.662000														2			2		0	0	0.115264	0	0
MLL	4297	broad.mit.edu	37	11	118373881	118373881	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:118373881C>T	uc001pta.3	+	26	7288	c.7265C>T	c.(7264-7266)tCc>tTc	p.S2422F	MLL_uc001ptb.3_Missense_Mutation_p.S2425F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2422					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGATCTAGTTCCAGAGATAGG	0.393000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									26			6		0	0	0.021553	0	0
TRRAP	8295	broad.mit.edu	37	7	98543392	98543392	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98543392G>C	uc003upp.3	+	31	4705	c.4496G>C	c.(4495-4497)aGa>aCa	p.R1499T	TRRAP_uc011kis.2_Intron|TRRAP_uc003upr.3_Missense_Mutation_p.R1191T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1499					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGTGCGGGAGATGTCCCTTG	0.373000														73			20		0	0	0.125774	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777892	31777892	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:31777892G>C	uc003nxh.3	-	1	2041	c.1858C>G	c.(1858-1860)Cct>Gct	p.P620A	HSPA1L_uc010jte.3_Missense_Mutation_p.P620A|HSPA1L_uc021yuz.1_Missense_Mutation_p.P620A	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	620					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCAGGCAGGCCCAGTGCAT	0.468000														87			15		0	0	0.146539	0	0
LRP1B	53353	broad.mit.edu	37	2	141751586	141751586	+	Silent	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:141751586G>A	uc002tvj.1	-	15	3594	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	874	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S874S(4)|p.G873*(1)|p.G873G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTCATCGCTTCCGTCTA	0.428000										TSP Lung(27;0.18)				40			18		0	0	0.049695	0	0
ZAN	7455	broad.mit.edu	37	7	100361701	100361701	+	Silent	SNP	T	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100361701T>G	uc003uwj.3	+	21	4314	c.4149T>G	c.(4147-4149)ctT>ctG	p.L1383L	ZAN_uc003uwk.3_Silent_p.L1383L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1383					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.L1383I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCATGCTTGATATGTGCG	0.607000														52			23		0	0	0.108266	0	0
OR2W1	26692	broad.mit.edu	37	6	29012357	29012357	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:29012357A>G	uc003nlw.2	-	0	596	c.596T>C	c.(595-597)gTt>gCt	p.V199A	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TAAAGCGAAAACAGACATTTC	0.418000														139			28		0	0	0.116897	0	0
BAI3	577	broad.mit.edu	37	6	69646417	69646417	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:69646417C>A	uc010kak.3	+	3	1151	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	BAI3_uc003pev.4_Missense_Mutation_p.S292Y	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	292	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGGTGAATCTGGTGTGGAA	0.433000														51			13		3.45872e-05	3.81476e-05	0.146539	1	0
TGM4	7047	broad.mit.edu	37	3	44948523	44948523	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:44948523C>T	uc003coc.4	+	9	1231	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	386					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507000														47			24		0	0	0.091800	0	0
WAS	7454	broad.mit.edu	37	X	48547271	48547271	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:48547271C>T	uc004dkm.4	+	9	1211	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	385	Poly-Pro.				T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCCCTCCACCCCCTGGAGCT	0.741000			"""Mis, N, F, S"""			lymphoma								7			3		0	0	0.115264	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58024091	58024091	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:58024091A>G	uc002ixy.3	+	14	1623	c.1520A>G	c.(1519-1521)aAa>aGa	p.K507R	RPS6KB1_uc010ddj.2_Intron|RPS6KB1_uc010wom.2_Missense_Mutation_p.K454R|RPS6KB1_uc010won.2_Missense_Mutation_p.K484R|RPS6KB1_uc010woo.2_Missense_Mutation_p.K442R	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	507	Autoinhibitory domain.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGGCCATACAAAAAACAAGCT	0.458000														52			25		0	0	0.134883	0	0
THBS4	7060	broad.mit.edu	37	5	79372739	79372739	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:79372739C>A	uc021yaw.1	+	15	2145	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	652					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGTGCCCAGCTGGACACCGA	0.547000														219			10		0.0809354	0.0825871	0.080935	1	0
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Silent	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:71616252C>A	uc003kcb.3	+	0	53	c.43C>A	c.(43-45)Cga>Aga	p.R15R	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Silent_p.R15R|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627000														40			15		0.00074312	0.000779497	0.175082	1	0
DCAF6	55827	broad.mit.edu	37	1	167971768	167971768	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:167971768G>C	uc001gew.3	+	7	1305	c.952G>C	c.(952-954)Gat>Cat	p.D318H	DCAF6_uc001gex.3_Missense_Mutation_p.D318H|DCAF6_uc010plk.2_Missense_Mutation_p.D287H|DCAF6_uc001gev.3_Missense_Mutation_p.D318H|DCAF6_uc001gey.3_Missense_Mutation_p.D171H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	318					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGATTGGTCAGATACTGGACC	0.378000														122			36		0	0	0.139131	0	0
DARC	2532	broad.mit.edu	37	1	159175360	159175360	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:159175360A>T	uc001ftp.4	+	0	312	c.137A>T	c.(136-138)aAc>aTc	p.N46I	DARC_uc001fto.3_Missense_Mutation_p.N44I	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	44					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TATGGTGCCAACCTGGAAGCA	0.527000														76			15		0	0	0.132662	0	0
ATOH1	474	broad.mit.edu	37	4	94750467	94750467	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:94750467G>C	uc003hta.1	+	0	390	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	130					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCTGTGCAAGCTGAAAGGCG	0.667000														15			15		0	0	0.049695	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216123	21216123	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr14:21216123C>T	uc021rom.1	+	0	384	c.384C>T	c.(382-384)ggC>ggT	p.G128G	EDDM3A_uc001vyc.3_Silent_p.G128G	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	128					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TCCATTGTGGCGTAGATGGAT	0.438000														67			9		0	0	0.047766	0	0
GNAO1	2775	broad.mit.edu	37	16	56388866	56388866	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:56388866C>A	uc002eiu.4	+	7	1863	c.966C>A	c.(964-966)caC>caA	p.H322Q		NM_020988	NP_066268	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA.	322					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TATATTGTCACATGACTTGTG	0.498000														57			7		0.000274275	0.000289727	0.047766	1	0
RYR2	6262	broad.mit.edu	37	1	237540689	237540689	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:237540689T>C	uc001hyl.1	+	7	650	c.530T>C	c.(529-531)gTt>gCt	p.V177A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	177	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGTACGAGTTGGAGATGAC	0.438000														81			15		0	0	0.049695	0	0
NPAS4	266743	broad.mit.edu	37	11	66191992	66191992	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:66191992G>A	uc001ohx.1	+	6	1807	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N	NPAS4_uc010rpc.1_Missense_Mutation_p.S334N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	544					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CACCTGGACAGCCCCAGCCAA	0.582000														255			4		0	0	0.150653	0	0
SLC22A23	63027	broad.mit.edu	37	6	3273470	3273470	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:3273470G>A	uc003mvm.3	-	9	1880	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	AK096219_uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.P346L|SLC22A23_uc003mvo.3_Missense_Mutation_p.P346L|SLC22A23_uc003mvp.1_Non-coding_Transcript	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	627					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AATGTTCTCAGGCAGGTTCTG	0.597000														153			27		0	0	0.173368	0	0
KCNT2	343450	broad.mit.edu	37	1	196227553	196227553	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:196227553G>C	uc001gtd.1	-	25	3042	c.2982C>G	c.(2980-2982)agC>agG	p.S994R	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S927R|KCNT2_uc001gtf.1_Missense_Mutation_p.S970R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.S498R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	994						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCGGTGGTTGCTGCGGTGGT	0.468000														104			24		0	0	0.116897	0	0
SND1	27044	broad.mit.edu	37	7	127343357	127343357	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:127343357C>G	uc003vmi.3	+	6	1046	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	274	TNase-like 2.			L -> V (in Ref. 1; AAA80488).	gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAGAACATTCTGGGTACCAT	0.488000														77			19		0	0	0.091800	0	0
PREX2	80243	broad.mit.edu	37	8	69103986	69103986	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:69103986C>G	uc003xxv.1	+	35	4403	c.4376C>G	c.(4375-4377)cCa>cGa	p.P1459R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAAATTCACCACCAAACTCC	0.308000														77			13		0	0	0.049695	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553006	50553006	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:50553006C>G	uc003bjj.3	+	6	1164	c.1081C>G	c.(1081-1083)Cag>Gag	p.Q361E	MOV10L1_uc003bjk.4_Missense_Mutation_p.Q361E|MOV10L1_uc011arp.2_Missense_Mutation_p.Q341E|MOV10L1_uc011arq.1_Missense_Mutation_p.Q122E|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	361					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAAAACCTCTCAGATGTCGGA	0.478000														40			8		0	0	0.038147	0	0
CSMD3	114788	broad.mit.edu	37	8	113529334	113529334	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:113529334C>G	uc003ynu.3	-	27	4844	c.4685G>C	c.(4684-4686)gGa>gCa	p.G1562A	CSMD3_uc003yns.3_Missense_Mutation_p.G834A|CSMD3_uc003ynt.3_Missense_Mutation_p.G1522A|CSMD3_uc011lhx.2_Missense_Mutation_p.G1458A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1562	Sushi 8.					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						TCTTTCCTCTCCTTGAAGTTC	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				92			25		0	0	0.163468	0	0
PLCB4	5332	broad.mit.edu	37	20	9424678	9424678	+	Splice_Site	SNP	G	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr20:9424678G>T	uc021wam.1	+	27	2793	c.2778_splice	c.e27+1	p.K926_splice	PLCB4_uc010gbw.1_Splice_Site_p.K926_splice|PLCB4_uc010gbx.3_Splice_Site_p.K938_splice|PLCB4_uc021wal.1_Splice_Site_p.K926_splice|PLCB4_uc002wnh.3_Splice_Site_p.K773_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	926					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGATGAAGGTAAAATTGCT	0.303000														68			8		0.00621372	0.00642798	0.058154	1	0
DIAPH2	1730	broad.mit.edu	37	X	96369879	96369879	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:96369879A>T	uc004efu.4	+	20	2900	c.2504A>T	c.(2503-2505)gAg>gTg	p.E835V	DIAPH2_uc004eft.4_Missense_Mutation_p.E835V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	835	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor 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						AGACTTTTAGAGTTAGTTCTT	0.358000														14			10		0	0	0.058154	0	0
ELK3	2004	broad.mit.edu	37	12	96617393	96617393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:96617393G>A	uc001teo.1	+	1	328	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	17					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GTTGCTGCTGGATCAGAAACA	0.532000														72			18		0	0	0.043863	0	0
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:152328035A>C	uc001ezw.4	-	2	2300	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	743	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507000														391			7		0	0	0.029380	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580582	40580582	+	Silent	SNP	C	T	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:40580582C>T	uc010xvh.2	-	5	1918	c.1770G>A	c.(1768-1770)gaG>gaA	p.E590E	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.E589E|ZNF780A_uc002omz.3_Silent_p.E589E	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393000														230			4		0	0	0.014758	0	0
CD247	919	broad.mit.edu	37	1	167408580	167408580	+	Splice_Site	DEL	C	-	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:167408580delC	uc001gei.4	-	3	364	c.219_splice	c.e3+1	p.N73_splice	CD247_uc001gej.4_Splice_Site_p.N73_splice|CD247_uc001gek.2_Splice_Site_p.N73_splice	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	73	ITAM 1.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GGCTGACTTACGTTATAGAGC	0.622													---	175	---	---	31	---					
WIPF1	7456	broad.mit.edu	37	2	175440027	175440041	+	In_Frame_Del	DEL	CCTCCGCCACCACCT	-	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:175440027_175440041delCCTCCGCCACCACCT	uc002uiz.3	-	3	349_363	c.249_263delAGGTGGTGGCGGAGG	c.(247-264)ggaggtggtggcggaggc>ggc	p.83_88GGGGGG>G	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc010fqt.1_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc002ujc.1_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc002ujb.2_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc010zep.1_In_Frame_Del_p.83_88GGGGGG>G	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	83	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.G82R(1)|p.G83E(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acttccaccgcctccgccaccacctcctccgccaa	0.600													---	83	---	---	34	---					
MEPCE	56257	broad.mit.edu	37	7	100028370	100028392	+	Frame_Shift_Del	DEL	TTGCACTGATGAGGGCCATGTAG	-	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100028370_100028392delTTGCACTGATGAGGGCCATGTAG	uc003uuw.3	+	0	1117_1139	c.729_751delTTGCACTGATGAGGGCCATGTAG	c.(727-753)acttgcactgatgagggccatgtagttfs	p.T243fs	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	243							methyltransferase activity	p.H249P(2)|p.T243A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTCAATACTTGCACTGATGAGGGCCATGTAGTTCTTGCTTC	0.592													---	398	---	---	22	---					
OR5D13	390142	broad.mit.edu	37	11	55541558	55541565	+	Frame_Shift_Del	DEL	CATTCTGA	-	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:55541558_55541565delCATTCTGA	uc010ril.2	+	0	645_652	c.645_652delCATTCTGA	c.(643-654)atcattctgacafs	p.I215fs		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACATCATATAT	0.442													---	105	---	---	13	---					
