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
FLG2	388698	broad.mit.edu	37	1	152326384	152326384	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:152326384T>C	uc001ezw.4	-	2	3951	c.3878A>G	c.(3877-3879)cAc>cGc	p.H1293R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1293							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGTGTGTGAATGTGTTC	0.473												
HHIPL2	79802	broad.mit.edu	37	1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:222717002C>T	uc001hnh.1	-	1	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	284					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R284H(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483												
FEZ1	9638	broad.mit.edu	37	11	125359436	125359436	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr11:125359436T>G	uc001qbx.3	-	1	473	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	FEZ1_uc010sbc.2_Missense_Mutation_p.K80Q|FEZ1_uc001qby.2_Missense_Mutation_p.K80Q|FEZ1_uc021qrv.1_Missense_Mutation_p.K80Q	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	80					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCGGTCTTGGCGTTGTAG	0.463												
VWF	7450	broad.mit.edu	37	12	6128780	6128780	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:6128780G>A	uc001qnn.1	-	27	4054	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1268			H -> D (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGAAATCGTGCAACGGCG	0.617												
MON2	23041	broad.mit.edu	37	12	62954286	62954286	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:62954286C>T	uc001sre.3	+	25	3816	c.3425C>T	c.(3424-3426)gCt>gTt	p.A1142V	MON2_uc010ssn.2_Missense_Mutation_p.A1142V|MON2_uc009zqj.3_Missense_Mutation_p.A1142V|MON2_uc010ssl.2_Missense_Mutation_p.A1070V|MON2_uc010ssm.2_Missense_Mutation_p.A1119V|MON2_uc001srf.3_Missense_Mutation_p.A905V|MON2_uc001srg.3_Missense_Mutation_p.A17V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1143					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCAAGAGCTTGGGATGTT	0.338												
WSCD2	9671	broad.mit.edu	37	12	108589646	108589646	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:108589646C>T	uc001tms.3	+	1	781	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD2_uc001tmt.3_Missense_Mutation_p.R13C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	13						integral to membrane		p.R13H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGGTACTTCCGCCGGAAACC	0.587												
TCHP	84260	broad.mit.edu	37	12	110352296	110352296	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:110352296G>A	uc001tpn.3	+	10	1337	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.R395Q	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	395	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.R395*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGAACCGACGGGCACAA	0.483												
CLIP1	6249	broad.mit.edu	37	12	122825886	122825886	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:122825886A>T	uc001ucg.2	-	10	2020	c.1865T>A	c.(1864-1866)cTa>cAa	p.L622Q	CLIP1_uc001uch.1_Missense_Mutation_p.L611Q|CLIP1_uc001uci.1_Missense_Mutation_p.L576Q|CLIP1_uc001ucj.1_Missense_Mutation_p.L312Q|CLIP1_uc009zxo.1_Missense_Mutation_p.L178Q	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACTTCCATAGAGCTATCAC	0.488												
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478												
TMCO5A	145942	broad.mit.edu	37	15	38228595	38228595	+	Missense_Mutation	SNP	C	C	T	rs138045481		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:38228595C>T	uc001zjw.3	+	1	173	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMCO5A_uc001zjv.1_Missense_Mutation_p.T24M|TMCO5A_uc010bbc.1_Missense_Mutation_p.T24M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	24						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAAGGGATACGCAGAGAATA	0.398												
USP8	9101	broad.mit.edu	37	15	50788098	50788098	+	Silent	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:50788098T>C	uc001zym.4	+	17	3212	c.2712T>C	c.(2710-2712)ttT>ttC	p.F904F	USP8_uc001zyl.4_Silent_p.F904F|USP8_uc001zyn.4_Silent_p.F904F|USP8_uc010ufh.2_Silent_p.F798F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F71F	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	904					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCGATGACTTTAAAGCTGCAG	0.348												
ADCY9	115	broad.mit.edu	37	16	4016798	4016798	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:4016798C>T	uc002cvx.3	-	10	3579	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAGATCCGCTTCCACGTCT	0.567												
CRYM	1428	broad.mit.edu	37	16	21273454	21273454	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:21273454C>A	uc002dim.3	-	7	997	c.699G>T	c.(697-699)tgG>tgT	p.W233C	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.W191C	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	233					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCAGTTCTCTCCAGTCAGGTC	0.532												
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:30365550_30365552delCAT	uc002dxr.3	-	1	423_425	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_uc002dxs.3_In_Frame_Del_p.D57del	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532												
PRSS36	146547	broad.mit.edu	37	16	31151619	31151619	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:31151619C>A	uc002ebd.3	-	13	2344	c.2285G>T	c.(2284-2286)tGt>tTt	p.C762F	PRSS36_uc010vff.2_Missense_Mutation_p.C537F|PRSS36_uc010vfg.2_Missense_Mutation_p.C757F|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	762	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTGTACCTCACACCTGTTCTC	0.527												
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	Missense_Mutation	SNP	C	C	T	rs13338202	by1000genomes	TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:90161618C>T	uc002fqq.3	+	3	544	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	BC139719_uc002fqp.3_Missense_Mutation_p.R165C					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607												
NTN1	9423	broad.mit.edu	37	17	9066306	9066306	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:9066306A>T	uc002glw.4	+	2	1302	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	399	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CACCCACCGGAAGGCCTGCAA	0.637												
HNF1B	6928	broad.mit.edu	37	17	36059152	36059152	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:36059152A>G	uc002hok.4	-	7	1804	c.1583T>C	c.(1582-1584)tTt>tCt	p.F528S	HNF1B_uc021tvu.1_Missense_Mutation_p.F233S|HNF1B_uc010wdi.2_Missense_Mutation_p.F502S|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	528					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCAGATGGAAACCGGGAGGT	0.517												
TMC8	147138	broad.mit.edu	37	17	76128876	76128876	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:76128876G>A	uc002jup.2	+	4	838	c.456G>A	c.(454-456)caG>caA	p.Q152Q	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	152						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGCCCTCCAGTGCCCTGGTA	0.592												
DSC1	1823	broad.mit.edu	37	18	28712602	28712602	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr18:28712602A>T	uc002kwn.3	-	13	2429	c.2167T>A	c.(2167-2169)Tgt>Agt	p.C723S	DSC1_uc002kwm.3_Missense_Mutation_p.C723S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	723					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGGAAAACATTTCTTGACT	0.328												
REXO1	57455	broad.mit.edu	37	19	1827919	1827924	+	In_Frame_Del	DEL	TCTGAG	TCTGAG	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:1827919_1827924delTCTGAG	uc002lua.4	-	1	959_964	c.864_869delCTCAGA	c.(862-870)gactcagaa>gaa	p.DS288del	REXO1_uc010dsr.1_In_Frame_Del_p.DS242del	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	288						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTCATCTTCTGAGTCTGAGAACC	0.670												
GNA11	2767	broad.mit.edu	37	19	3113330	3113330	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:3113330C>T	uc002lxd.3	+	2	566	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	108					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A108A(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCAGGCCAATGCGCTCC	0.662			Mis		uveal melanoma							
MCOLN1	57192	broad.mit.edu	37	19	7593590	7593590	+	Splice_Site	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:7593590G>A	uc002mgo.3	+	8	1125	c.984_splice	c.e8+1	p.N328_splice	MCOLN1_uc002mgp.3_Splice_Site_p.N293_splice	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	328					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAGAACGTGAGGCTTCT	0.637												
MUC16	94025	broad.mit.edu	37	19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9020077C>T	uc002mkp.3	-	20	37622	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12475	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCGCTCTCTGTTGAGTCC	0.562												
OR7G2	390882	broad.mit.edu	37	19	9213273	9213273	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9213273A>G	uc010xkk.2	-	0	710	c.710T>C	c.(709-711)tTg>tCg	p.L237S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTGTAAGACAAAATGATTCC	0.448												
AKAP8	10270	broad.mit.edu	37	19	15484623	15484623	+	Silent	SNP	A	A	G	rs117407939		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:15484623A>G	uc002nav.3	-	3	415	c.345T>C	c.(343-345)ggT>ggC	p.G115G	AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	115	Poly-Gly.				signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCCCTCCCCACCGCCGCCGC	0.632												
ZNF99	7652	broad.mit.edu	37	19	22941396	22941396	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:22941396C>A	uc021urt.1	-	3	1470	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGCTGAGAAACGC	0.363												
FCGBP	8857	broad.mit.edu	37	19	40363235	40363235	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:40363235C>T	uc002omp.4	-	31	14843	c.14835G>A	c.(14833-14835)gtG>gtA	p.V4945V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4945	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCGGCGGTCACCCGCACGC	0.657												
PELI1	57162	broad.mit.edu	37	2	64323378	64323378	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:64323378T>C	uc002scs.4	-	4	4610	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PELI1_uc002sct.4_Missense_Mutation_p.M191V|PELI1_uc002scr.4_Missense_Mutation_p.M12V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	191					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CGTGGATGCATCACAAGAACA	0.458												
ARHGAP25	9938	broad.mit.edu	37	2	69053291	69053291	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:69053291G>A	uc010fdg.3	+	10	2325	c.1906G>A	c.(1906-1908)Gtc>Atc	p.V636I	ARHGAP25_uc010yql.2_Missense_Mutation_p.V596I|ARHGAP25_uc002sew.3_Missense_Mutation_p.V628I|ARHGAP25_uc002sex.3_Missense_Mutation_p.V629I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGGAATTTGTCAAATCCAT	0.552												
YSK4	80122	broad.mit.edu	37	2	135738921	135738921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:135738921G>T	uc002tue.1	-	8	3421	c.3390C>A	c.(3388-3390)tgC>tgA	p.C1130*	YSK4_uc002tuf.1_Nonsense_Mutation_p.C312*|YSK4_uc010fnc.1_Nonsense_Mutation_p.C264*|YSK4_uc010fnd.1_Nonsense_Mutation_p.C1017*|YSK4_uc010zbg.1_Nonsense_Mutation_p.C262*|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Nonsense_Mutation_p.C858*|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1130	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCTTGCAAGCATGTCCCCA	0.418												
SAG	6295	broad.mit.edu	37	2	234237130	234237130	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:234237130C>T	uc002vuh.2	+	7	907	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SAG_uc010zmq.1_Silent_p.S39S	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	173					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAGGAGCTCCGTGCGATTAC	0.592												
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358												
KCNG1	3755	broad.mit.edu	37	20	49626630	49626630	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:49626630G>A	uc002xwa.4	-	1	541	c.246C>T	c.(244-246)gaC>gaT	p.D82D	KCNG1_uc002xwb.3_Silent_p.D82D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGGGAACTCGTCCAGCGTGG	0.632												
LZTR1	8216	broad.mit.edu	37	22	21349215	21349217	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:21349215_21349217delGAA	uc002zto.3	+	15	1945_1947	c.1842_1844delGAA	c.(1840-1845)atgaag>atg	p.K615del	LZTR1_uc002ztn.3_In_Frame_Del_p.K574del|LZTR1_uc011ahy.2_In_Frame_Del_p.K596del	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	615					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGATCATGATGAAGGAGTTCGAG	0.601												
MN1	4330	broad.mit.edu	37	22	28193444	28193444	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:28193444C>T	uc003adj.3	-	0	4043	c.3088G>A	c.(3088-3090)Ggc>Agc	p.G1030S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1030							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCCCGCCGTCCAGGGAC	0.657			T	ETV6	"""AML, meningioma"""							
NEK4	6787	broad.mit.edu	37	3	52780805	52780807	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:52780805_52780807delCTC	uc003dfq.4	-	8	1823_1825	c.1620_1622delGAG	c.(1618-1623)aggaga>aga	p.540_541RR>R	NEK4_uc011bej.2_In_Frame_Del_p.451_452RR>R|NEK4_uc003dfr.3_In_Frame_Del_p.494_495RR>R	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	540					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTCTGTTCTCTCCTCTTTTGCC	0.483												
PRKCD	5580	broad.mit.edu	37	3	53222823	53222823	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:53222823G>A	uc003dgl.3	+	15	1856	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PRKCD_uc003dgm.3_Silent_p.G501G	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	501	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACATATTCGGGGAGAGCCGGG	0.602												
HHLA2	11148	broad.mit.edu	37	3	108076824	108076824	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:108076824C>T	uc003dwz.3	+	5	1233	c.819C>T	c.(817-819)taC>taT	p.Y273Y	HHLA2_uc011bhl.2_Silent_p.Y209Y|HHLA2_uc010hpu.3_Silent_p.Y273Y|HHLA2_uc003dwy.4_Silent_p.Y273Y	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	273	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTGGCTTACTATCTGAGCT	0.383												
PKD2	5311	broad.mit.edu	37	4	88973174	88973174	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:88973174A>G	uc003hre.3	+	6	1667	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	527						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTAACATATACAGAACATCA	0.328												
POU4F2	5458	broad.mit.edu	37	4	147561831	147561831	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:147561831G>T	uc003ikv.3	+	1	1349	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	367					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTGCCATTCAGCCTCGGCCCT	0.582												
TLR2	7097	broad.mit.edu	37	4	154624496	154624496	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:154624496C>G	uc003inq.3	+	2	656	c.437C>G	c.(436-438)tCt>tGt	p.S146C	TLR2_uc003inr.3_Missense_Mutation_p.S146C|TLR2_uc003ins.3_Missense_Mutation_p.S146C|TLR2_uc021xtl.1_Missense_Mutation_p.S146C	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	146					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S146C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCTTTTTTCTCATCTCACA	0.373												
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
CXXC5	51523	broad.mit.edu	37	5	139060958	139060958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:139060958C>T	uc010jfg.1	+	1	1140	c.850C>T	c.(850-852)Cga>Tga	p.R284*	CXXC5_uc003let.2_Nonsense_Mutation_p.R284*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	284					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAATCGAAAGACTGG	0.562												
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140590067C>T	uc003liz.3	+	0	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_uc011dak.2_Missense_Mutation_p.R193C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	530	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R530H(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677												
PCDHGC5	56100	broad.mit.edu	37	5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140788951T>G	uc003lkj.2	+	0	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.I394M	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I394M(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATTTATTCTTCTT	0.453												
BMP5	653	broad.mit.edu	37	6	55739290	55739290	+	Missense_Mutation	SNP	C	C	T	rs148184427		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:55739290C>T	uc003pcq.3	-	0	1086	c.374G>A	c.(373-375)cGt>cAt	p.R125H	BMP5_uc011dxf.2_Missense_Mutation_p.R125H	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	125					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTATGCGACGAGGATACCC	0.522												
LAMA2	3908	broad.mit.edu	37	6	129687471	129687471	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:129687471C>T	uc021zfb.1	+	32	4930	c.4825C>T	c.(4825-4827)Ctg>Ttg	p.L1609L	LAMA2_uc003qbn.3_Silent_p.L1609L|LAMA2_uc003qbo.3_Silent_p.L1609L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1609	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.M1608T(1)|p.L1609Q(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATAAAATGCTGTATGGTCT	0.517												
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr7:147914501G>A	uc003weu.2	+	18	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1044					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1044L(2)|p.P1044P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)		
ARMC1	55156	broad.mit.edu	37	8	66534548	66534548	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr8:66534548C>G	uc003xvl.3	-	2	480	c.225G>C	c.(223-225)aaG>aaC	p.K75N	ARMC1_uc011leo.2_Missense_Mutation_p.D37H	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	75					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTCCTTTCATCTTTTCTCTGT	0.338												
X97876	442421	broad.mit.edu	37	9	66499750	66499750	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:66499750G>C	uc004aee.1	+	0	560	c.560G>C	c.(559-561)gGg>gCg	p.G187A	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCCATTTTCGGGGTGGTGGGC	0.602												
OR1L1	26737	broad.mit.edu	37	9	125424624	125424624	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:125424624G>A	uc022bmz.1	+	0	630	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TAATGACCCCGTTTTCATGCA	0.413												
MID1	4281	broad.mit.edu	37	X	10535512	10535512	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:10535512C>T	uc004cte.4	-	1	266	c.76G>A	c.(76-78)Gca>Aca	p.A26T	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Missense_Mutation_p.A26T|MID1_uc004cth.4_Missense_Mutation_p.A26T|MID1_uc004ctk.4_Missense_Mutation_p.A26T|MID1_uc004ctj.4_Missense_Mutation_p.A26T|MID1_uc004cti.4_Missense_Mutation_p.A26T|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.A26T|MID1_uc004ctn.2_Missense_Mutation_p.A26T|MID1_uc004cto.2_Missense_Mutation_p.A26T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Missense_Mutation_p.A26T|MID1_uc004ctu.3_Missense_Mutation_p.A26T|MID1_uc004ctv.3_Missense_Mutation_p.A26T|MID1_uc004ctw.3_Missense_Mutation_p.A26T|MID1_uc010ndy.2_Missense_Mutation_p.A26T|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Missense_Mutation_p.A26T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Missense_Mutation_p.A26T|MID1_uc004cuc.1_Missense_Mutation_p.A26T|MID1_uc004cud.1_Missense_Mutation_p.A26T|MID1_uc004cue.1_Missense_Mutation_p.A26T|MID1_uc004cuf.1_Missense_Mutation_p.A26T|MID1_uc004cug.1_Missense_Mutation_p.A26T	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	26					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGTGTGCGCAGGGCAGT	0.557												
DCAF12L2	340578	broad.mit.edu	37	X	125299277	125299277	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:125299277C>T	uc004euk.2	-	0	804	c.631G>A	c.(631-633)Ggc>Agc	p.G211S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647												
FRMD7	90167	broad.mit.edu	37	X	131212955	131212955	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:131212955G>C	uc004ewn.3	-	11	1268	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	FRMD7_uc022cdy.1_Missense_Mutation_p.Q244E|FRMD7_uc011muy.2_Missense_Mutation_p.Q349E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	364					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCACATTTTGGTAGTAGCCA	0.488