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
CYP4Z2P	163720	broad.mit.edu	37	1	47364570	47364570	+	RNA	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:47364570C>T	uc001cqo.1	-	1		c.305G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGAAGAACATCGTAAAGGGTC	0.433000													14	52					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169991	118169991	+	Silent	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:118169991C>T	uc003yoh.3	+	3	710	c.480C>T	c.(478-480)taC>taT	p.Y160Y	SLC30A8_uc010mcz.3_Silent_p.Y111Y|SLC30A8_uc003yog.3_Silent_p.Y111Y|SLC30A8_uc011lia.2_Silent_p.Y111Y|SLC30A8_uc022bab.1_Silent_p.Y111Y	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	160					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTAGTGTACCTGGCATGTG	0.527000													5	230					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160099088	160099088	+	Silent	SNP	T	T	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:160099088T>C	uc001fvc.3	+	10	1491	c.1359T>C	c.(1357-1359)gcT>gcC	p.A453A	ATP1A2_uc001fvb.2_Silent_p.A453A|ATP1A2_uc001fvd.3_Silent_p.A189A|ATP1A2_uc009wtg.1_Silent_p.A141A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	453					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGAGTCAGCTCTGCTCAAGT	0.532000													29	223					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926944	50926944	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:50926944T>G	uc002psd.3	+	4	447	c.422T>G	c.(421-423)cTg>cGg	p.L141R	SPIB_uc021uyc.1_Missense_Mutation_p.L110R|SPIB_uc002pse.3_Missense_Mutation_p.L141R|SPIB_uc010ycc.2_Missense_Mutation_p.L50R	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	141					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.A140A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCCTGCCCTGGAGGTCTCG	0.667000													13	24					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1484421	1484421	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:1484421C>T	uc003skj.4	-	5	1432	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	429						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGTGCCGGGGGGCACT	0.632000													5	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393601	179393601	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:179393601A>C	uc021vsy.1	-	308	99398	c.99173T>G	c.(99172-99174)tTa>tGa	p.L33058*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.L26753*|TTN_uc021vta.1_Nonsense_Mutation_p.L26686*|TTN_uc021vtb.1_Nonsense_Mutation_p.L26561*|TTN_uc002umq.3_Nonsense_Mutation_p.L75*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33985							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGCTTTTAAAACCAGTCT	0.433000													10	21					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26926460	26926460	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:26926460C>T	uc003zqd.3	-	4	1089	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PLAA_uc003zqe.2_Missense_Mutation_p.E222K	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	222					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAAGACACTCGCCAGTGATT	0.328000													31	45					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229523	140229523	+	Silent	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:140229523C>T	uc003lhu.2	+	0	2167	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.D481D	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	495	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)			CTGCGCGGGACGCTGACGCGC	0.657000													34	82					0	0	1	0	0
AK023304	0	broad.mit.edu	37	19	12318385	12318385	+	RNA	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:12318385G>A	uc002mtj.2	+	1		c.368G>A			AK023304_uc010dyq.2_Intron					Homo sapiens cDNA FLJ13242 fis, clone OVARC1000578.																		CATGGTGACAGCTAATTAGAT	0.343000													3	8					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85962835	85962835	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:85962835G>A	uc001kcv.3	+	7	844	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	CDHR1_uc001kcw.3_Missense_Mutation_p.V247M|CDHR1_uc009xst.3_Missense_Mutation_p.V6M	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	247	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCTGTCTTCGTGGGCACACC	0.617000													13	107					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:7680922G>A	uc002giu.1	+	31	5231	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1738E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478000													5	422					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19789726	19789726	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:19789726G>T	uc002zqf.1	-	6	767	c.530C>A	c.(529-531)tCc>tAc	p.S177Y		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	177					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTGGGCGGGAGCTGCAGTC	0.637000													14	65					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53815611	53815611	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr3:53815611A>G	uc003dgv.4	+	38	4872	c.4709A>G	c.(4708-4710)aAt>aGt	p.N1570S	CACNA1D_uc003dgu.4_Missense_Mutation_p.N1590S|CACNA1D_uc003dgy.4_Missense_Mutation_p.N1555S|CACNA1D_uc003dgw.4_Missense_Mutation_p.N1237S|CACNA1D_uc003dgx.1_Missense_Mutation_p.N746S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1570					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGCAAGCTAATGAAGAACTT	0.463000													13	60					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618311	158618311	+	Silent	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:158618311G>T	uc001fst.1	-	25	3901	c.3702C>A	c.(3700-3702)ccC>ccA	p.P1234P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1234					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1233I(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493000													43	71					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:66205285C>T	uc011dxu.1	-	3	557	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_uc003peq.3_Missense_Mutation_p.V7I|EYS_uc003per.1_Missense_Mutation_p.V7I|EYS_uc021zbn.1_Missense_Mutation_p.V7I|EYS_uc010kaj.1_Intron	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	7					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368000													14	39					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399141	127399141	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr3:127399141G>A	uc003ejt.3	+	11	1348	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	ABTB1_uc003ejr.3_Silent_p.A278A|ABTB1_uc003ejs.3_Silent_p.A395A|ABTB1_uc003eju.3_Silent_p.A278A|ABTB1_uc010hsm.3_Silent_p.A147A	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	420						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCGTGGAGGCGGTGAAGGAGG	0.672000													10	28					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122662580	122662580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:122662580G>T	uc021pzt.1	+	22	3013	c.2767G>T	c.(2767-2769)Gaa>Taa	p.E923*	WDR11_uc010qte.2_Nonsense_Mutation_p.E525*|WDR11_uc001lfd.1_Nonsense_Mutation_p.E441*	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	923						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTATGGTGATGAATCGGAGCT	0.542000													8	44					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965063	176965063	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:176965063G>A	uc010zev.1	+	0	534	c.534G>A	c.(532-534)gcG>gcA	p.A178A	HOXD12_uc021vsp.1_Silent_p.A178A	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	178						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGTGCAGGCGGCGGGCGTTG	0.687000													12	25					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													6	210					0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95909521	95909521	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:95909521C>T	uc001yei.4	-	9	1897	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	C14orf49_uc010avi.3_Missense_Mutation_p.D628N	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	628					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GCCTGGAAGTCGGAGGAAAGC	0.627000													15	27					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:88964976G>A	uc011khi.2	+	3	3218	c.2680G>A	c.(2680-2682)Ggg>Agg	p.G894R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	894						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438000										HNSCC(36;0.09)			39	71					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173768	88173768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:88173768G>A	uc003plv.3	+	12	1792	c.1669G>A	c.(1669-1671)Gta>Ata	p.V557I	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.V369I|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	557										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTCACTCAGTACAAACTGA	0.388000													23	34					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400029	139400029	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:139400029A>G	uc004chz.3	-	24	4319	c.4319T>C	c.(4318-4320)aTc>aCc	p.I1440T	NOTCH1_uc004cia.1_Missense_Mutation_p.I670T	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1440					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGGGGGGATGTCGCGCCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	28					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94054885	94054885	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:94054885T>G	uc001dpz.3	-	4	853	c.578A>C	c.(577-579)aAg>aCg	p.K193T	BCAR3_uc001dqa.3_Missense_Mutation_p.K193T|BCAR3_uc001dqb.3_Missense_Mutation_p.K193T|BCAR3_uc001dpy.3_Missense_Mutation_p.K102T|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	193	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGCGAGGTTCTTCCACTGACA	0.547000													4	52					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45307636	45307636	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:45307636C>T	uc010olf.2	-	1	160	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	PTCH2_uc021omv.1_Missense_Mutation_p.G50R|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	50					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.C49C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTGGATCCCGCATCCCAGA	0.552000									Basal Cell Nevus syndrome				85	90					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868410	117868410	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:117868410A>T	uc003yod.3	-	7	1220	c.932T>A	c.(931-933)aTa>aAa	p.I311K		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	311	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTACCAGTTATATCAATAGG	0.388000													45	73					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740974	76740974	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr12:76740974A>C	uc001syd.1	-	1	875	c.791T>G	c.(790-792)aTt>aGt	p.I264S		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	264					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAGAGGCTGAATGGTTTCTGT	0.393000									Bardet-Biedl syndrome				5	34					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083999	21083999	+	Splice_Site	SNP	C	C	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:21083999C>A	uc002zsz.4	-	38	4496	c.4235_splice	c.e38-1	p.G1412_splice	PI4KA_uc002zsy.4_Splice_Site_p.G222_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1412					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTAGACATGCCTAGGAGGAA	0.537000													4	6					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537922	52537922	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52537922C>A	uc002pyk.3	-	4	1328	c.1010G>T	c.(1009-1011)cGa>cTa	p.R337L		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTATGAGTTCGCTGATGTAT	0.408000													4	124					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr11:55798207G>A	uc010riw.2	+	0	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105T(2)|p.F104F(1)|p.F104V(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463000													16	35					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68105709	68105709	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:68105709G>A	uc003xxi.3	+	29	3462	c.3431G>A	c.(3430-3432)cGt>cAt	p.R1144H	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Missense_Mutation_p.R1109H|CSPP1_uc003xxk.3_Missense_Mutation_p.R764H|CSPP1_uc010lyw.3_Intron	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	1144						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATAGCAGTCGTCCTAATGTA	0.403000													8	47					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573785	28573785	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573785G>A	uc003xgz.1	+	2	802	c.209G>A	c.(208-210)gGg>gAg	p.G70E		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	70						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCCGGGTGGGGAACGAGCTG	0.597000													24	16					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39250208	39250208	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:39250208C>T	uc002rrk.4	-	9	1402	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.G68E|SOS1_uc002rrl.3_Missense_Mutation_p.G186E	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	454	PH.				Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTTTGGCTCCTACACGTGT	0.393000									Noonan syndrome				49	59					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726653	12726653	+	Silent	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:12726653C>T	uc001auf.3	+	3	1131	c.1131C>T	c.(1129-1131)caC>caT	p.H377H		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	377						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATGGTTTTCACGGATCCATTA	0.443000													34	75					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79842101	79842101	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:79842101A>G	uc003uhb.1	+	6	1127	c.790A>G	c.(790-792)Att>Gtt	p.I264V	GNAI1_uc011kgt.1_Missense_Mutation_p.I212V	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	264					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGATACATCCATTATACTTTT	0.323000													39	45					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32818263	32818263	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr13:32818263G>A	uc001utx.3	+	46	7268	c.6772G>A	c.(6772-6774)Gtt>Att	p.V2258I	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTTCTGTCGTTCCTGTCAA	0.473000													13	49					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871043G>A	uc003qxu.3	+	2	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_uc011ehf.2_Silent_p.Q53Q|TBP_uc003qxt.3_Silent_p.Q73Q|TBP_uc011ehg.1_Silent_p.Q73Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)|p.Q73Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													5	62					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362814	36362814	+	Silent	SNP	C	C	T	rs148987065		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:36362814C>T	uc002oce.3	+	5	864	c.726C>T	c.(724-726)gaC>gaT	p.D242D	APLP1_uc010xsz.2_Silent_p.D203D|APLP1_uc002ocf.3_Silent_p.D242D|APLP1_uc002ocg.3_Silent_p.D145D|APLP1_uc010xta.2_Silent_p.D236D	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	242	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTGAGGACGAGGAAGAGG	0.637000													69	109					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40900013	40900013	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:40900013T>C	uc022acd.1	+	14	1375	c.1351T>C	c.(1351-1353)Tac>Cac	p.Y451H	C7orf10_uc003thn.2_Missense_Mutation_p.Y425H|C7orf10_uc003tho.2_Missense_Mutation_p.Y377H|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	425							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTCCTGAGATACGATGACAG	0.572000													6	181					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717686	24717686	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:24717686G>A	uc002zzw.3	+	4	1041	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SPECC1L_uc002zzv.4_Silent_p.L246L|SPECC1L_uc011ajq.2_Silent_p.L246L|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	246					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TATTGCAGTTGCAGGAACAGA	0.433000													39	145					0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675119	167675119	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:167675119C>T	uc010jjd.3	+	26	7148	c.7148C>T	c.(7147-7149)aCg>aTg	p.T2383M	ODZ2_uc003lzr.4_Missense_Mutation_p.T2153M|ODZ2_uc003lzt.4_Missense_Mutation_p.T1756M|ODZ2_uc010jje.3_Missense_Mutation_p.T1647M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCAGTACACGGCCTATGGG	0.532000													4	203					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728670	20728670	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:20728670A>C	uc002npa.3	-	3	519	c.339T>G	c.(337-339)ttT>ttG	p.F113L		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	113					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGCCCTTTTTAAACTGTAAAT	0.353000													4	120					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86329033	86329033	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:86329033T>A	uc003pla.2	-	8	1652	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	SYNCRIP_uc003pku.3_Nonsense_Mutation_p.K371*|SYNCRIP_uc003pkv.3_Nonsense_Mutation_p.K371*|SYNCRIP_uc003pkw.3_Nonsense_Mutation_p.K336*|SYNCRIP_uc003pkx.3_Nonsense_Mutation_p.K219*|SYNCRIP_uc003pky.3_Nonsense_Mutation_p.K273*|SYNCRIP_uc003pkz.2_Nonsense_Mutation_p.K336*	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	371	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCATAATCTTTTAACTTCTTC	0.363000													5	97					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41908118	41908118	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:41908118C>A	uc003orn.3	-	1	569	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CCND3_uc003orp.3_Missense_Mutation_p.R54L|CCND3_uc011duk.2_Intron|CCND3_uc011dum.1_Missense_Mutation_p.R54L|CCND3_uc003orm.3_Missense_Mutation_p.R85L|CCND3_uc003oro.3_Intron|CCND3_uc011dul.1_Intron	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	135	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCAACTGGCGGGGAGAGAC	0.597000			T	IGH@	MM								52	68					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822621	40822621	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:40822621G>A	uc002iau.2	-	9	1991	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.D505D	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	508	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTCGTGACCGTCTGGGGACA	0.627000													5	88					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52723057	52723057	+	Silent	SNP	C	C	T	rs139139629	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52723057C>T	uc002pyp.3	+	9	1537	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	PPP2R1A_uc010ydk.2_Silent_p.D359D|PPP2R1A_uc002pyq.3_Silent_p.D235D	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	414	PP2A subunit C binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTGAGGACGCCAAGTGGC	0.627000			Mis		clear cell ovarian carcinoma								23	46					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:18023246G>A	uc021trm.1	+	0	1351	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MYO15A_uc021trl.1_Missense_Mutation_p.V378I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	378	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597000													47	99					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836806	4836806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:4836806G>A	uc021tnz.1	+	1	982	c.907G>A	c.(907-909)Gat>Aat	p.D303N	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.D303N	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	303										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CACTGAGGGCGATAAGGTGCG	0.527000													10	168					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85699758	85699758	+	Silent	SNP	G	G	A	rs146868524		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr4:85699758G>A	uc003hpd.3	-	26	4824	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1472						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTAGATGGAGGATGTGGCTGT	0.388000													29	43					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573786	28573786	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573786G>A	uc003xgz.1	+	2	803	c.210G>A	c.(208-210)ggG>ggA	p.G70G		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	70						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCGGGTGGGGAACGAGCTGT	0.597000													24	16					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871082G>A	uc003qxu.3	+	2	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_uc011ehf.2_Silent_p.Q66Q|TBP_uc003qxt.3_Silent_p.Q86Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													5	66					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	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.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000													4	23					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	15					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240182	21240182	+	Silent	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:21240182A>G	uc002npj.3	+	4	1249	c.1068A>G	c.(1066-1068)caA>caG	p.Q356Q	ZNF430_uc002npk.3_Silent_p.Q355Q	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q356Q(2)|p.N355S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTTAACCAATCCTCAACCC	0.383000													4	104					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270986	154270986	+	Silent	SNP	G	G	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:154270986G>C	uc003lvx.3	-	25	4160	c.4077C>G	c.(4075-4077)ctC>ctG	p.L1359L	GEMIN5_uc011ddk.1_Silent_p.L1358L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1359					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.L1359L(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTGAAAAGAGCTCCTTAA	0.468000													8	158					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389698	20389698	+	Silent	SNP	T	T	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:20389698T>A	uc010tkw.2	+	0	933	c.933T>A	c.(931-933)atT>atA	p.I311I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGAGAATTTCTGAAATGT	0.368000													36	44					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272	by1000genomes	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:42204105_42204106insTCC	uc003ose.2	-	15	3526_3527	c.2963_2964insGGA	c.(2962-2964)gac>gaGGAc	p.987_988insE	TRERF1_uc011duq.1_In_Frame_Ins_p.884_885insE|TRERF1_uc003osb.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003osc.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003osd.2_In_Frame_Ins_p.967_968insE	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	967	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.530													4	4	---	---	---	---					
PCNX	22990	broad.mit.edu	37	14	71445025	71445026	+	Frame_Shift_Del	DEL	AC	AC	-	rs142489415	by1000genomes	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:71445025_71445026delAC	uc001xmo.2	+	5	2417_2418	c.1971_1972delAC	c.(1969-1974)gaacacfs	p.E657fs	PCNX_uc001xmn.4_Frame_Shift_Del_p.E657fs|PCNX_uc010are.1_Frame_Shift_Del_p.E657fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	657						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACTCTGAACACACACACAA	0.485													7	216	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	1	1030_1032	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													5	6	---	---	---	---					
ARNT2	9915	broad.mit.edu	37	15	80873662	80873662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr15:80873662delC	uc002bfr.3	+	16	2001	c.1835delC	c.(1834-1836)tccfs	p.S612fs	ARNT2_uc010unm.2_Frame_Shift_Del_p.S601fs|ARNT2_uc002bfs.3_Frame_Shift_Del_p.S601fs	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	612					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACCCCTCTTCCTACAGCCCC	0.572													19	84	---	---	---	---					
FLT3LG	2323	broad.mit.edu	37	19	49982166	49982166	+	Splice_Site	DEL	C	C	-			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:49982166delC	uc002pnu.3	+	6	453	c.343_splice	c.e6-1	p.P115_splice	FLT3LG_uc002pnw.3_Splice_Site_p.P33_splice|FLT3LG_uc010yau.2_Splice_Site_p.P115_splice|FLT3LG_uc002pnv.3_Splice_Site_p.P33_splice|FLT3LG_uc002pnx.3_Splice_Site_p.P115_splice|FLT3LG_uc010yav.2_Splice_Site_p.P33_splice	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	115					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGCTCCCAGCCCCCCCCCAG	0.687													3	3	---	---	---	---					
