Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
POTEH	23784	broad.mit.edu	37	22	16287548	16287548	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:16287548C>T	uc010gqp.2	-	0	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	113								p.S112S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592000													5	186					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217085	51217085	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:51217085G>A	uc002psx.1	-	4	781	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637000													8	57					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260090	216260090	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:216260090C>T	uc001hku.1	-	23	5345	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1653	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATAACTTCGCGGGAGCCC	0.408000										HNSCC(13;0.011)			9	15					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:136569967C>T	uc002tuu.1	-	6	2278	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	756	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G756D(2)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATGGGCATGCCATTCCCGGC	0.438000													5	59					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926319	135926319	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr9:135926319T>C	uc004ccj.4	+	3	1059	c.722T>C	c.(721-723)gTc>gCc	p.V241A	GTF3C5_uc010mzz.2_Missense_Mutation_p.V116A|GTF3C5_uc004cci.4_Missense_Mutation_p.V241A	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	241						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGGAGGAGAGTCTGCACTAAC	0.642000													7	20					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39672161	39672161	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:39672161G>A	uc002hwy.3	-	4	1193	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	KRT15_uc002hwz.3_Silent_p.I236I|KRT15_uc002hxa.3_Silent_p.I169I|KRT15_uc002hxb.1_Silent_p.I169I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	334	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTGCAGCTCGATCTCCAGCT	0.577000													51	91					0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120768459	120768459	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:120768459A>C	uc003vjq.4	+	10	1773	c.1326A>C	c.(1324-1326)ctA>ctC	p.L442L	C7orf58_uc003vjr.1_Silent_p.L442L|C7orf58_uc003vjs.4_Silent_p.L442L|C7orf58_uc003vjt.4_Silent_p.L222L|C7orf58_uc010lkk.2_Silent_p.L222L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	442						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AAAAGGAACTAAATCAGTGTC	0.358000													13	29					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351740	74351740	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr4:74351740C>T	uc003hhb.3	+	3	463	c.432C>T	c.(430-432)ccC>ccT	p.P144P		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	144	Albumin 1.				vitamin transport		vitamin E binding	p.P144P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTGGATCCCGAAGAGAAAT	0.388000													22	45					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140285506	140285506	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:140285506C>T	uc010lnk.3	-	4	1648	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.P376P|DENND2A_uc003vvw.3_Silent_p.P376P|DENND2A_uc003vvx.3_Silent_p.P376P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	376										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCTTCATTGGCGGATCTGTGT	0.488000													4	109					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52580282	52580282	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:52580282C>T	uc010ydh.1	-	4	531	c.71G>A	c.(70-72)tGc>tAc	p.C24Y	ZNF841_uc002pyl.1_Intron	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGGTCCAGGCATTTCCACTC	0.468000													15	41					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32369195	32369195	+	Silent	SNP	C	C	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369195C>G	uc001rku.3	+	1	309	c.228C>G	c.(226-228)tcC>tcG	p.S76S	BICD1_uc001rkv.3_Silent_p.S76S|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	76					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGGGCAGTCCTTCTCCATCC	0.463000													4	54					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:112813329A>G	uc002thm.2	+	0	530	c.161A>G	c.(160-162)aAc>aGc	p.N54S	TMEM87B_uc010fkg.2_Missense_Mutation_p.N54S|TMEM87B_uc010fkh.2_Missense_Mutation_p.N54S	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	54						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GAGACAGTCAACGACGTAAGT	0.711000													11	23					0	0	1	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617689	183617689	+	Silent	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:183617689A>T	uc021pgc.1	-	0	228	c.228T>A	c.(226-228)ggT>ggA	p.G76G	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_Silent_p.G76G	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	76					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCACCAGGCTACCAGAAGAAG	0.388000													5	41					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67579179	67579179	+	Silent	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr8:67579179C>A	uc003xwn.3	-	0	274	c.15G>T	c.(13-15)ccG>ccT	p.P5P	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	5	Pro-rich.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			gcggcggcggcggcggcTGAG	0.692000													4	13					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141609267	141609267	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:141609267C>T	uc002tvj.1	-	27	5637	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	LRP1B_uc010fnl.1_Silent_p.A737A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1555					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A1555V(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)		AGTGGGGGCACGCACAGGCAG	0.413000										TSP Lung(27;0.18)			20	33					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:47696426A>T	uc002ipg.3	-	4	694	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_uc010dbk.3_Missense_Mutation_p.F133I|SPOP_uc002ipb.3_Missense_Mutation_p.F133I|SPOP_uc002ipc.3_Missense_Mutation_p.F133I|SPOP_uc002ipd.3_Missense_Mutation_p.F133I|SPOP_uc002ipe.3_Missense_Mutation_p.F133I|SPOP_uc002ipf.3_Missense_Mutation_p.F133I	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(8)|p.F133L(7)|p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			31	79					0	0	1	0	0
ASB1	51665	broad.mit.edu	37	2	239353281	239353281	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:239353281C>T	uc002vyg.3	+	3	879	c.793C>T	c.(793-795)Cta>Tta	p.L265L		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	265					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CAACCTGAATCTAGTGAAGTG	0.562000													24	49					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702905C>A	uc001nqi.3	+	9	2214	c.2021C>A	c.(2020-2022)gCc>gAc	p.A674D	TMEM132A_uc001nqj.3_Missense_Mutation_p.A673D	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	673	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTTCCCGCCCCAAAGCAG	0.642000													3	5					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40816928	40816928	+	Silent	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:40816928G>C	uc003ayv.1	-	6	1011	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_uc010gyf.1_Silent_p.L218L|MKL1_uc003ayw.1_Silent_p.L268L|MKL1_uc010gye.1_Silent_p.L268L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	268	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGAGGAAGAGCTGCTGCT	0.627000			T	RBM15	acute megakaryocytic leukemia								16	36					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725366	26725366	+	Silent	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:26725366T>C	uc001mra.2	-	4	967	c.654A>G	c.(652-654)acA>acG	p.T218T	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.T218T	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	218					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGATCCATTTGTTGATTGCT	0.358000													40	73					0	0	1	0	0
RFC3	5983	broad.mit.edu	37	13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	rs140507898		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr13:34392356G>A	uc001uuz.3	+	0	151	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RFC3_uc001uva.3_Missense_Mutation_p.G14E|RFC3_uc010ted.1_Missense_Mutation_p.G14E	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	14					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGCTCCTTGGGACGGCTGGAC	0.701000													10	37					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20463106	20463106	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:20463106A>C	uc002rds.1	-	12	2091	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_uc002rdq.1_Silent_p.P68P|PUM2_uc002rdt.1_Silent_p.P691P|PUM2_uc002rdr.2_Silent_p.P551P|PUM2_uc010yjy.1_Silent_p.P612P|PUM2_uc002rdu.1_Silent_p.P691P|PUM2_uc010yjz.1_Silent_p.P630P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	691					regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGGAAGGAGGAAAGAGCT	0.463000													15	30					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:156590271G>T	uc003lwn.3	-	1	1105	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	335						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATATGTTGGCAGCAC	0.567000													28	69					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054988	4054988	+	Silent	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:4054988G>A	uc002lzh.3	-	1	318	c.243C>T	c.(241-243)agC>agT	p.S81S	ZBTB7A_uc002lzi.3_Silent_p.S81S	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	81	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTCGGCGCTGACGAAGT	0.662000													16	14					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624161	624161	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr16:624161C>A	uc002cho.3	+	1	225	c.87C>A	c.(85-87)agC>agA	p.S29R	PIGQ_uc010bqw.3_Missense_Mutation_p.S29R|PIGQ_uc002chm.3_Missense_Mutation_p.S29R|PIGQ_uc002chn.3_Missense_Mutation_p.S29R|PIGQ_uc010uui.2_Missense_Mutation_p.S43R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	29					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGCAGAGCAGCGCCGTGGTCC	0.697000													4	36					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:68719231G>A	uc001stz.2	-	3	759	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Intron|MDM1_uc001sua.4_3'UTR|MDM1_uc010std.2_3'UTR	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338000													4	112					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:193002807C>A	uc011bsq.2	-	26	3122	c.3122G>T	c.(3121-3123)aGt>aTt	p.S1041I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1041					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGTCTCAAAACTTAAAATTGA	0.393000													13	31					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:142264887G>C	uc011dbj.2	+	4	444	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ARHGAP26_uc003lmt.3_Missense_Mutation_p.E137Q|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E137Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	137					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGACAAAGAGACAGAAAA	0.358000													13	42					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702907	60702907	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702907C>T	uc001nqi.3	+	9	2216	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	TMEM132A_uc001nqj.3_Missense_Mutation_p.P674S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	674	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTCCCGCCCCAAAGCAGGT	0.647000													3	6					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687732	151687732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr6:151687732G>A	uc003qoh.3	-	2	604	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGTGGATCTCGCCCGAGTTTT	0.532000													20	42					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186064439	186064439	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:186064439C>T	uc001grq.1	+	67	10588	c.10359C>T	c.(10357-10359)acC>acT	p.T3453T	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3453	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGTTCCACCTCTATGGCAT	0.493000													9	38					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr18:9887074G>A	uc002koi.4	+	1	1047	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_uc002koh.4_Missense_Mutation_p.E133K|TXNDC2_uc021ugx.1_Missense_Mutation_p.E133K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													4	104					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369197T>C	uc001rku.3	+	1	311	c.230T>C	c.(229-231)tTc>tCc	p.F77S	BICD1_uc001rkv.3_Missense_Mutation_p.F77S|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	77					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGCAGTCCTTCTCCATCCAC	0.463000													4	54					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43039709	43039709	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:43039709C>T	uc003jnf.3	-	0	739	c.440G>A	c.(439-441)cGc>cAc	p.R147H	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	147							receptor activity										AGGATGGCGGCGTTCCAAAAG	0.622000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:138669318_138669323delTGAGCG	uc003esx.1	+	2	563_568	c.432_437delTGAGCG	c.(430-438)cctgagcgg>ccg	p.ER147del	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	147										large_intestine(1)|lung(3)	4						TTCCCGCTCCTGAGCGGGAGAGAATA	0.626													17	40	---	---	---	---					
ADAMTS14	140766	broad.mit.edu	37	10	72503837	72503837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr10:72503837delA	uc001jrg.3	+	13	2083	c.2083delA	c.(2083-2085)aagfs	p.K695fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.K692fs|ADAMTS14_uc001jri.1_Frame_Shift_Del_p.K215fs	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	692	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGCTGTGACAAGGAGGTGGG	0.667													2	4	---	---	---	---					
CCDC88B	283234	broad.mit.edu	37	11	64107744	64107744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:64107744delG	uc001nzy.3	+	0	55	c.6delG	c.(4-6)gagfs	p.E2fs	CCDC88B_uc009ypo.2_Frame_Shift_Del_p.E2fs|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	2					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGGCATGGAGGGGGGCAAGG	0.692													2	4	---	---	---	---					
IFT81	28981	broad.mit.edu	37	12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:110630424delG	uc001tqi.3	+	13	1600	c.1470delG	c.(1468-1470)gtgfs	p.V490fs	IFT81_uc001tqh.3_Frame_Shift_Del_p.V490fs|IFT81_uc001tqj.3_Non-coding_Transcript	NM_001143779	NP_054774	Q8WYA0	IFT81_HUMAN	Homo sapiens intraflagellar transport 81 homolog (Chlamydomonas) (IFT81), transcript variant 3, mRNA.	490					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGT	0.279													12	25	---	---	---	---					
MIS12	79003	broad.mit.edu	37	17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:5392653delT	uc002gce.3	+	2	1024	c.471delT	c.(469-471)actfs	p.T157fs	MIS12_uc002gcd.3_Frame_Shift_Del_p.T157fs|MIS12_uc021tom.1_Frame_Shift_Del_p.T157fs	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	157					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACGTTGACTTTCTTTGATG	0.398													79	156	---	---	---	---					
GJD3	125111	broad.mit.edu	37	17	38520102	38520102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:38520102delG	uc010cxa.1	+	1	1251	c.914delG	c.(913-915)tggfs	p.W305fs	RARA_uc021txb.1_Intron|GJD3_uc010cwz.3_5'UTR			Q8N144	CXD3_HUMAN	Homo sapiens cDNA FLJ43264 fis, clone HLUNG2017350, weakly similar to GAP JUNCTION ALPHA-3 PROTEIN.	0					cell communication|gap junction assembly	cell surface|connexon complex|integral to plasma membrane	protein binding						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			GTCAGGGGATGGGGCAAGTCA	0.701													2	4	---	---	---	---					
BCL2L13	23786	broad.mit.edu	37	22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:18178954delT	uc002zmw.3	+	4	652	c.434delT	c.(433-435)gttfs	p.V145fs	BCL2L13_uc002zmu.3_Frame_Shift_Del_p.V145fs|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Intron	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	145					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGACCACAGTTCATGCCAGC	0.378													8	38	---	---	---	---					
SAMM50	25813	broad.mit.edu	37	22	44386201	44386201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:44386201delG	uc003bej.3	+	13	1476	c.1279delG	c.(1279-1281)gggfs	p.G427fs	SAMM50_uc011aqd.2_Frame_Shift_Del_p.G217fs|SAMM50_uc003bek.3_Frame_Shift_Del_p.G232fs	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	427					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562													21	59	---	---	---	---					
