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
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	76					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:143092407G>A	uc003qjd.3	-	4	4212	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCATGATCTGTGGCTGGGCC	0.557000													5	137					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:101503043T>A	uc001kqd.4	+	3	475	c.327T>A	c.(325-327)taT>taA	p.Y109*	CUTC_uc010qpk.2_Nonsense_Mutation_p.Y109*|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	109					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCAAGCTTTATGGTGCTGATG	0.428000													10	147					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008936	120008936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:120008936G>A	uc011muc.2	-	0	844	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	197										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCTCCTGGACCGACGCA	0.706000													5	85					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768561	117768561	+	Missense_Mutation	SNP	G	G	A	rs76839820		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:117768561G>A	uc001twn.2	-	1	1025	c.314C>T	c.(313-315)aCg>aTg	p.T105M	NOS1_uc001twm.2_Missense_Mutation_p.T105M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	105	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCCAGGTGCGTGGTGAAACC	0.612000													5	100					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208388	121208388	+	Silent	SNP	A	A	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:121208388A>G	uc003eee.4	-	15	3519	c.3390T>C	c.(3388-3390)aaT>aaC	p.N1130N	POLQ_uc003eed.3_Silent_p.N302N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1130					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAATTATCATTAGTTAGTG	0.348000								DNA polymerases (catalytic subunits)					26	67					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													8	29					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109894046	109894046	+	Silent	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:109894046G>C	uc001toj.1	-	5	2340	c.627C>G	c.(625-627)gtC>gtG	p.V209V	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Silent_p.V174V|KCTD10_uc001toi.1_Silent_p.V200V|KCTD10_uc001tok.1_Silent_p.V19V	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	200					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTATGAACAGGACCCTTCCGT	0.438000													12	86					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182527	91182527	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:91182527G>A	uc001dns.3	-	0	268	c.226C>T	c.(226-228)Cat>Tat	p.H76Y		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	76						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTACCAGATGCGGCTCCGGG	0.637000													25	75					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997690	27997690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:27997690C>T	uc004dbx.1	-	0	1877	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	588								p.E588K(2)		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						CCCTCCTCCTCGGATGTATCT	0.502000													4	48					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989295	9989295	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:9989295A>G	uc003bul.2	-	3	1692	c.1562T>C	c.(1561-1563)aTg>aCg	p.M521T	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	521						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GTCGGTAAGCATGTAGGCGGA	0.716000													5	20					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:7229901G>C	uc003mxb.3	+	9	2061	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_uc021yky.1_Silent_p.T523T|RREB1_uc003mxc.3_Silent_p.T523T|RREB1_uc010jnx.3_Silent_p.T523T|RREB1_uc021ykz.1_Silent_p.T523T|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	523	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687000													10	97					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr8:107752617T>G	uc011lht.2	+	12	2312	c.2213T>G	c.(2212-2214)cTt>cGt	p.L738R	OXR1_uc022azp.1_Missense_Mutation_p.L737R|OXR1_uc003ymf.3_Missense_Mutation_p.L710R|OXR1_uc011lhu.2_Missense_Mutation_p.L703R|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Missense_Mutation_p.L366R|OXR1_uc003ymk.3_Missense_Mutation_p.L107R|OXR1_uc003yml.3_Missense_Mutation_p.L80R	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	738	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CCATGGACTCTTGTTTATGGT	0.378000													5	98					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284252	33284252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:33284252G>A	uc003oeb.3	-	1	594	c.442C>T	c.(442-444)Cga>Tga	p.R148*	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Nonsense_Mutation_p.R148*|ZBTB22_uc021ywm.1_Nonsense_Mutation_p.R148*	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGCCTTCTCGGAGTAGTTCA	0.592000													4	190					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:226924202C>T	uc010pvo.2	-	1	1298	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_uc001hqh.3_Missense_Mutation_p.D320N	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	320							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCAAGATCCTGTGGACGG	0.627000													5	89					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs36179995		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:71276861T>C	uc001oqt.1	+	0	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	76	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677000													6	319					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56085932G>T	uc010rjf.2	+	0	150	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTCACCAAGTTGGACTCCA	0.433000													36	140					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000													5	83					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:11461642G>A	uc001qzf.1	-	2	309	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PRB4_uc001qzt.3_Missense_Mutation_p.P92L	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	92	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.612000										HNSCC(22;0.051)			7	662					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:26702711C>T	uc001mra.2	-	11	1679	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G455G(1)|p.A456A(1)		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						TAAATGAAGGCCCCAATGGCC	0.468000													11	20					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38300818	38300818	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300818C>T	uc001cce.1	-	5	1064	c.923G>A	c.(922-924)aGt>aAt	p.S308N	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTCATGTGACTTTTGAGACT	0.403000													37	74					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:74649343T>C	uc001dfy.4	-	1	218	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	9										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTGGTTAGCTCTTCTGTGAC	0.313000													8	20					0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620366	82620366	+	RNA	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr15:82620366C>T	uc021ssl.1	+	18		c.3846C>T			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		CTCGGGCACACGCCTGAGCCT	0.652000													4	23					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:14316390T>A	uc001mlf.4	-	2	529	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_uc021qec.1_5'UTR|RRAS2_uc009ygq.3_5'UTR|RRAS2_uc010rco.2_Missense_Mutation_p.Q78L|RRAS2_uc021qed.1_Missense_Mutation_p.Q37L	NM_012250	NP_001170786	P62070	RRAS2_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog 2 (RRAS2), transcript variant 1, mRNA.	72			Q -> L (in an ovarian cancer sample; somatic mutation).			endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(4)|p.Q72H(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													11	114					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34978067	34978067	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:34978067C>T	uc003zvq.3	+	7	1340	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	KIAA1045_uc003zvr.3_Missense_Mutation_p.R388C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	388							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGGCTGCTCGCCCCAACAG	0.542000													33	124					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38300817	38300817	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300817A>T	uc001cce.1	-	5	1065	c.924T>A	c.(922-924)agT>agA	p.S308R	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTCATGTGACTTTTGAGAC	0.403000													36	73					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748983	152748983	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:152748983G>A	uc010pdv.2	+	0	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	46					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCAGCGTCAGCTCCGG	0.672000													6	123					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:155161799T>G	uc021pap.1	-	1	433	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.T112P|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.T121P|MUC1_uc001fiw.2_Missense_Mutation_p.T112P|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL								10	22					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74298939	74298939	+	RNA	SNP	G	G	C	rs142156061	by1000genomes	TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr7:74298939G>C	uc011kfj.2	-	7		c.1037C>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTCCCCCACGCCATGCCACC	0.537000													3	21					0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000													5	14					0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	A	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000													4	17					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141481	8141481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr17:8141481T>C	uc002gkq.4	-	3	574	c.515A>G	c.(514-516)aAt>aGt	p.N172S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	172					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCTGAGGAATTCCACCTGGC	0.557000													22	75					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:117168901G>C	uc004biy.4	-	8	1461	c.821C>G	c.(820-822)gCc>gGc	p.A274G	DFNB31_uc004bix.3_Missense_Mutation_p.A306G|DFNB31_uc004biz.4_Missense_Mutation_p.A657G|DFNB31_uc004bja.4_Missense_Mutation_p.A657G	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	657					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGGGTTGGCAGGGGAGAC	0.682000													6	151					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr5:140167326C>T	uc003lhb.2	+	0	1451	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PCDHAC2_uc003lha.2_Missense_Mutation_p.A484V|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A484V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662000													6	172					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28794430	28794430	+	Silent	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr13:28794430C>T	uc001urz.3	+	5	1067	c.915C>T	c.(913-915)aaC>aaT	p.N305N	PAN3_uc010tdo.1_Silent_p.N305N|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Silent_p.N105N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	305	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGCTGAGTAACGTGTCCCAGT	0.423000													49	176					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132887602	132887602	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:132887602G>C	uc010nrn.2	-	2	1136	c.939C>G	c.(937-939)atC>atG	p.I313M	GPC3_uc004exe.2_Missense_Mutation_p.I313M|GPC3_uc011mvh.2_Missense_Mutation_p.I297M|GPC3_uc010nro.2_Missense_Mutation_p.I259M|GPC3_uc010nrp.2_Missense_Mutation_p.I185M	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	313						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCATGTCATAGATTCTGTACA	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				4	97					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182528	91182528	+	Silent	SNP	C	C	A	rs141603891		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:91182528C>A	uc001dns.3	-	0	267	c.225G>T	c.(223-225)ccG>ccT	p.P75P		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	75						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTACCAGATGCGGCTCCGGGG	0.632000													27	77					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:69653743G>T	uc010kak.3	+	4	1328	c.1052G>T	c.(1051-1053)tGg>tTg	p.W351L	BAI3_uc003pev.4_Missense_Mutation_p.W351L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	351	TSP type-1 2.				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)				TGGGAGGAATGGTCACCATGG	0.403000													37	94					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:3140420G>A	uc002ctv.1	-	4	938	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.P202S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.P212S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	284					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTGGGCTCGGGGACGCCCTCA	0.662000													6	237					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													7	389	---	---	---	---					
OR5M10	390167	broad.mit.edu	37	11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56344440delC	uc001niz.1	-	0	758	c.758delG	c.(757-759)ggafs	p.G253fs	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGAGGGTTCCATAAAACAA	0.438													48	184	---	---	---	---					
RPL29P2	118432	broad.mit.edu	37	17	7658285	7658285	+	Splice_Site	DEL	A	A	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr17:7658285delA	uc002giv.3	+	1		c.649_splice	c.e1+1		DNAH2_uc002giu.1_Intron					Homo sapiens ribosomal protein L29 pseudogene 2 (RPL29P2), non-coding RNA.																		CCTGAGGCAGAAAAAAAAAAA	0.532													3	5	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:44923045_44923048delCTAT	uc011mkz.2	+	16	2437_2440	c.2062_2065delCTAT	c.(2062-2067)ctatctfs	p.L688fs	KDM6A_uc022bvi.1_Frame_Shift_Del_p.L306fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.L636fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.L340fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.L557fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.L275fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	4	---	---	---	---					
