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
GABRD	2563	broad.mit.edu	37	1	1961508	1961508	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:1961508C>T	uc001aip.2	+	8	1241	c.1146C>T	c.(1144-1146)cgC>cgT	p.R382R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	382						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCAGCGCCGCGTCCCGGGGA	0.692												
DNAJC11	55735	broad.mit.edu	37	1	6704720	6704720	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:6704720C>T	uc001aof.2	-	9	1101	c.995G>A	c.(994-996)gGg>gAg	p.G332E	DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	332					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACCGTCCCAAAGAAGCC	0.562												
TNFRSF9	3604	broad.mit.edu	37	1	7998781	7998781	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:7998781C>A	uc001aot.3	-	4	469	c.208_splice	c.e4+1	p.G70_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	70					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398												
FBLIM1	54751	broad.mit.edu	37	1	16095074	16095074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:16095074G>A	uc001axd.1	+	5	933	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	FBLIM1_uc001axe.1_Missense_Mutation_p.E164K|FBLIM1_uc001axg.1_Missense_Mutation_p.E164K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	164	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCCATGGAGGAAGAGCTGCC	0.652												
C1orf38	9473	broad.mit.edu	37	1	28208484	28208484	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:28208484C>T	uc001bpc.4	+	3	677	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Missense_Mutation_p.R217C	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	217	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGTGCGCAGGACCAT	0.652												
FLG	2312	broad.mit.edu	37	1	152276552	152276552	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152276552C>T	uc001ezu.1	-	2	10846	c.10810G>A	c.(10810-10812)Gag>Aag	p.E3604K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3604	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280440	152280440	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152280440C>T	uc001ezu.1	-	2	6958	c.6922G>A	c.(6922-6924)Gag>Aag	p.E2308K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2308	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis			
SEC16B	89866	broad.mit.edu	37	1	177936906	177936906	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:177936906G>T	uc001glj.1	-	6	1077	c.211C>A	c.(211-213)Cat>Aat	p.H71N	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.H71N|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.H71N	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	71	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATGCATAATGGGGCTGCTGC	0.542												
LAMB3	3914	broad.mit.edu	37	1	209791966	209791966	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:209791966C>T	uc001hhg.3	-	17	3130	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LAMB3_uc009xco.3_Missense_Mutation_p.E914K|LAMB3_uc001hhh.3_Missense_Mutation_p.E914K	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	914	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACGGCCTCGCTGACCTCC	0.582												
CENPF	1063	broad.mit.edu	37	1	214819178	214819178	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:214819178G>A	uc001hkm.3	+	12	6439	c.6265G>A	c.(6265-6267)Gtc>Atc	p.V2089I		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2185					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGCTGAATGTCTCCAAGGC	0.473												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
AGAP6	414189	broad.mit.edu	37	10	51748622	51748622	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:51748622A>G	uc001jix.4	+	0	545	c.147A>G	c.(145-147)gtA>gtG	p.V49V		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	49					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTGCTGCTGTACAGCCTGCTG	0.582												
MYOF	26509	broad.mit.edu	37	10	95148849	95148849	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:95148849A>G	uc001kin.3	-	17	1642	c.1519T>C	c.(1519-1521)Tat>Cat	p.Y507H	MYOF_uc001kio.3_Missense_Mutation_p.Y494H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	507					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGCTTCCATAAAGATTCAGG	0.428												
MKI67	4288	broad.mit.edu	37	10	129906302	129906302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:129906302G>A	uc001lke.3	-	12	3997	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R908*|MKI67_uc009yav.1_Nonsense_Mutation_p.R843*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R418*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1268Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGTCGTTGCTTTGTG	0.507												
F2	2147	broad.mit.edu	37	11	46750326	46750326	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:46750326C>G	uc001ndf.4	+	10	1454	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	471	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.P471S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547												
FAM111A	63901	broad.mit.edu	37	11	58919918	58919918	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:58919918A>G	uc010rkp.2	+	4	1004	c.777A>G	c.(775-777)ttA>ttG	p.L259L	FAM111A_uc010rkq.2_Silent_p.L259L|FAM111A_uc010rkr.2_Silent_p.L259L|FAM111A_uc001nno.3_Silent_p.L259L|FAM111A_uc001nnp.3_Silent_p.L259L|FAM111A_uc001nnq.3_Silent_p.L259L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	259					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGATGAATTAGAAGGCAGAT	0.423												
NRXN2	9379	broad.mit.edu	37	11	64375399	64375399	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:64375399G>A	uc021qkw.1	-	22	4870	c.4408C>T	c.(4408-4410)Cgc>Tgc	p.R1470C	NRXN2_uc021qkx.1_Missense_Mutation_p.R1400C|NRXN2_uc001oas.3_Missense_Mutation_p.R1400C|NRXN2_uc001oao.3_Missense_Mutation_p.R110C|NRXN2_uc001oap.3_Missense_Mutation_p.R424C|NRXN2_uc001oaq.3_Missense_Mutation_p.R1137C	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1470					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAgggcgggcggcgcgcggcg	0.751												
IL10RA	3587	broad.mit.edu	37	11	117860220	117860220	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:117860220C>T	uc001prv.3	+	2	329	c.252C>T	c.(250-252)acC>acT	p.T84T	IL10RA_uc010rxl.2_Silent_p.T64T|IL10RA_uc010rxm.2_Silent_p.T64T|IL10RA_uc010rxn.2_Intron|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	84			T -> I (in IBD28).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTACCGCAGTGACCT	0.577												
APLP2	334	broad.mit.edu	37	11	129999030	129999030	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:129999030G>A	uc010sby.2	+	9	1541	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	APLP2_uc001qfp.3_Missense_Mutation_p.A462T|APLP2_uc001qfq.3_Missense_Mutation_p.A406T|APLP2_uc010sbz.2_Missense_Mutation_p.A250T|APLP2_uc001qfr.3_Missense_Mutation_p.A228T|APLP2_uc001qfs.3_Missense_Mutation_p.A233T|APLP2_uc021qsg.1_Missense_Mutation_p.A472T|APLP2_uc001qfv.3_Missense_Mutation_p.A353T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	462					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGAGTGGAAGCTATGCTGAA	0.582												
TAS2R30	259293	broad.mit.edu	37	12	11286246	11286246	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:11286246A>G	uc009zhs.1	-	0	598	c.598T>C	c.(598-600)Tgt>Cgt	p.C200R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CACAGAGAACAGATTAACAGC	0.428												
SOAT2	8435	broad.mit.edu	37	12	53516999	53516999	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:53516999A>G	uc001sbv.3	+	13	1460	c.1372_splice	c.e13+1	p.G458_splice	SOAT2_uc009zms.3_Splice_Site	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	458					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TTGTCATTGGAGGTGAGCTGG	0.582												
CLYBL	171425	broad.mit.edu	37	13	100425088	100425088	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr13:100425088C>G	uc001vok.3	+	1	104	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CLYBL_uc010tix.2_Missense_Mutation_p.L25V|CLYBL_uc010tiy.2_Missense_Mutation_p.L25V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	25					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCGTCTCTAGCAGCTGA	0.388												
ALDH6A1	4329	broad.mit.edu	37	14	74534253	74534253	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:74534253A>G	uc001xpo.3	-	7	971	c.872T>C	c.(871-873)gTa>gCa	p.V291A	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.V278A|ALDH6A1_uc010asa.3_Missense_Mutation_p.V136A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	291						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TGGCATGACTACCCCATGGTT	0.478												
LTBP2	4053	broad.mit.edu	37	14	75078642	75078642	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:75078642C>T	uc001xqa.3	-	0	393	c.6G>A	c.(4-6)agG>agA	p.R2R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	2					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTCCGCGGCCTCATGGCGC	0.756												
GABRB3	2562	broad.mit.edu	37	15	26812728	26812728	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:26812728C>T	uc001zbb.3	-	8	1106	c.1003_splice	c.e8+1	p.G335_splice	GABRB3_uc021sgg.1_Splice_Site_p.G208_splice|GABRB3_uc021sgh.1_Splice_Site_p.G194_splice|GABRB3_uc001zaz.3_Splice_Site_p.G279_splice|GABRB3_uc001zba.3_Splice_Site_p.G279_splice	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	279					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G279R(2)|p.G335R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TAGCACATACCGAGGGCAACT	0.373												
ALDH1A2	8854	broad.mit.edu	37	15	58306465	58306465	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:58306465G>A	uc002aex.3	-	1	405	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ALDH1A2_uc010ugv.2_Silent_p.N23N|ALDH1A2_uc002aey.3_Silent_p.N44N|ALDH1A2_uc010ugw.2_Silent_p.N15N|ALDH1A2_uc002aew.3_5'Flank	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	44					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCTGCCACTCGTTGTTTATAA	0.453												
CIB1	10519	broad.mit.edu	37	15	90775506	90775506	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:90775506G>A	uc002bpb.4	-	2	302	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	47					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAAGTGACGACTCCACGCT	0.612												
HS3ST6	64711	broad.mit.edu	37	16	1962053	1962053	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:1962053G>A	uc002cnf.3	-	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	158										endometrium(2)|lung(2)	4						GGGCGTAGTCGGAGATGGCCC	0.721												
GDPD3	79153	broad.mit.edu	37	16	30124034	30124036	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:30124034_30124036delTCA	uc002dwp.3	-	2	340_342	c.261_263delTGA	c.(259-264)gatgag>gag	p.D87del	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_In_Frame_Del_p.D25del|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	87	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCACAGGTTCTCATCATGTGACA	0.645											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHD9	80205	broad.mit.edu	37	16	53308187	53308187	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:53308187A>T	uc002ehb.3	+	22	5104	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	CHD9_uc002egy.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.3_Missense_Mutation_p.Q761L|CHD9_uc002ehg.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.3_Missense_Mutation_p.Q15L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1647					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATGAGTGTCAGAAAGTATTT	0.348												
MFSD6L	162387	broad.mit.edu	37	17	8702398	8702398	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:8702398C>A	uc002glp.2	-	0	270	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	14						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTTGGCCACCCCCAGCGCCCT	0.726												
SREBF1	6720	broad.mit.edu	37	17	17721038	17721038	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:17721038G>T	uc002gru.2	-	6	1570	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SREBF1_uc002grp.2_Missense_Mutation_p.L29M|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.P205H|SREBF1_uc002grs.2_Missense_Mutation_p.P435H|SREBF1_uc002grt.2_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	459	Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGGCTGTCAGGCTCCGAGTC	0.657												
RGS9	8787	broad.mit.edu	37	17	63221294	63221294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:63221294G>A	uc002jfe.3	+	17	1785	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	RGS9_uc010dem.3_Missense_Mutation_p.V525M|RGS9_uc002jfd.3_Missense_Mutation_p.V525M|RGS9_uc002jfg.3_Missense_Mutation_p.V299M	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	528				RVALE -> LVVLD (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACCCATCAGAGTGGCCTTGGA	0.677												
SERPINB2	5055	broad.mit.edu	37	18	61570323	61570323	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:61570323G>A	uc010xeu.2	+	8	1365	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SERPINB2_uc002ljo.3_Silent_p.S344S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	344					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.S344S(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGGGATGTCGGAGAGGAATG	0.498												
ADNP2	22850	broad.mit.edu	37	18	77895050	77895050	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:77895050G>A	uc002lnw.3	+	3	2209	c.1754G>A	c.(1753-1755)gGt>gAt	p.G585D		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	585					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGAGACCTGGTGCTTCGCAG	0.552												
VAV1	7409	broad.mit.edu	37	19	6828672	6828672	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:6828672G>A	uc002mfu.1	+	11	1229	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	VAV1_uc010xjh.1_Missense_Mutation_p.E346K|VAV1_uc010dva.1_Missense_Mutation_p.E378K|VAV1_uc002mfv.1_Missense_Mutation_p.E323K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGAGACAACGAGACACTGCG	0.637												
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:9014654C>T	uc002mkp.3	-	30	38525	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	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						GGGGTCAAGACGGTGGGTGCA	0.567												
IL27RA	9466	broad.mit.edu	37	19	14150321	14150321	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:14150321C>T	uc002mxx.3	+	3	642	c.219_splice	c.e3-1	p.Y73_splice		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	73					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCTCACAGCCGTTCCAACAA	0.602												
CPAMD8	27151	broad.mit.edu	37	19	17017818	17017818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17017818C>T	uc002nfb.3	-	29	4144	c.4112G>A	c.(4111-4113)cGc>cAc	p.R1371H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1324						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGGGCTGCGGAGCAGGGT	0.667												
ABHD8	79575	broad.mit.edu	37	19	17411828	17411828	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17411828G>A	uc002ngb.4	-	1	838	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	200							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TAGCCTAGGCGCACAAAGAAG	0.642												
LGALS14	56891	broad.mit.edu	37	19	40197279	40197279	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:40197279G>A	uc002omf.3	+	2	586	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	LGALS14_uc002omg.3_Missense_Mutation_p.V20M	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	20	Galectin.					nucleus	sugar binding	p.C48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGGTTCGTGCGTGATAATCAC	0.498												
KLK5	25818	broad.mit.edu	37	19	51452018	51452018	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:51452018T>C	uc002pue.3	-	5	822	c.604A>G	c.(604-606)Aag>Gag	p.K202E	KLK5_uc002puf.3_Missense_Mutation_p.K202E|KLK5_uc002pug.3_Missense_Mutation_p.K202E	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	202	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGAGGACCTTAGGGAAGTGC	0.502												
KIR3DL2	3811	broad.mit.edu	37	19	55331314	55331314	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55331314G>A	uc002qhl.4	+	3	565	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.V168I|KIR3DL2_uc010esf.3_Missense_Mutation_p.V73I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V168I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V168I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	168	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.V168I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTCACGCCTCGTTGGACAGAT	0.502												
SYT5	6861	broad.mit.edu	37	19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55685985C>T	uc002qjm.1	-	6	1920	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	287	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G287D(2)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517												
ZSCAN1	284312	broad.mit.edu	37	19	58565136	58565136	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:58565136G>A	uc002qrc.1	+	5	1191	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R315C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGACCCATCGCGAGGAAGGG	0.647												
ADCY3	109	broad.mit.edu	37	2	25141642	25141642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:25141642C>T	uc010ykm.2	-	0	414	c.215G>A	c.(214-216)aGg>aAg	p.R72K	ADCY3_uc002rfs.4_Missense_Mutation_p.R72K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	72					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGGCGCTGCCTTTTGAAGTA	0.597												
UXS1	80146	broad.mit.edu	37	2	106710571	106710571	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:106710571G>A	uc002tdm.3	-	14	1272	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	UXS1_uc002tdk.3_Missense_Mutation_p.R190C|UXS1_uc002tdl.3_Missense_Mutation_p.R224C|UXS1_uc002tdn.3_Missense_Mutation_p.R397C|UXS1_uc002tdo.3_Missense_Mutation_p.R335C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	392					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTCTTTACGGAAGTAGTGA	0.468												
TUBA3D	113457	broad.mit.edu	37	2	132238151	132238151	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:132238151C>T	uc002tsu.4	+	3	1078	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAATGCCTGCTTCGAGCCAG	0.597												
HOXD9	3235	broad.mit.edu	37	2	176988850	176988850	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:176988850C>A	uc010zex.2	+	1	1090	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	336						nucleus	sequence-specific DNA binding	p.E336D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTCAGAACCGTAGGATGAA	0.532												
AOX1	316	broad.mit.edu	37	2	201478599	201478599	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:201478599G>A	uc002uvx.3	+	14	1622	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	AOX1_uc010zhf.2_Silent_p.A63A|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507A(2)|p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGCTCGGCGCCAGGTGGGA	0.468												
EMILIN3	90187	broad.mit.edu	37	20	39990117	39990119	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr20:39990117_39990119delCCT	uc002xjy.1	-	3	2314_2316	c.2090_2092delAGG	c.(2089-2094)gagggt>ggt	p.E697del		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	697						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGCACGCACCCTCCACTTGTGC	0.665												
ERG	2078	broad.mit.edu	37	21	39795376	39795376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:39795376G>A	uc010gnw.3	-	4	660	c.365C>T	c.(364-366)cCc>cTc	p.P122L	ERG_uc021wjd.1_Missense_Mutation_p.P122L|ERG_uc002yxa.3_Missense_Mutation_p.P115L|ERG_uc011aek.2_Missense_Mutation_p.P23L|ERG_uc010gnv.3_Missense_Mutation_p.P23L|ERG_uc010gnx.3_Missense_Mutation_p.P122L|ERG_uc011ael.2_Missense_Mutation_p.P122L|ERG_uc002yxb.3_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.4_Missense_Mutation_p.P122L	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	122	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CATGTTTGGGGGTGGCATGTG	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
POFUT2	23275	broad.mit.edu	37	21	46689872	46689872	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:46689872G>A	uc002zhc.3	-	6	919	c.894C>T	c.(892-894)ttC>ttT	p.F298F	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.F298F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	298					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACCCCAGATGAAATCTTTTC	0.572												
GRIP2	80852	broad.mit.edu	37	3	14552933	14552933	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:14552933C>T	uc021wtn.1	-	16	2063	c.2063G>A	c.(2062-2064)aGc>aAc	p.S688N	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	592	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGCCACGCTGCCTTTCTT	0.597												
TRIM71	131405	broad.mit.edu	37	3	32915463	32915463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:32915463C>T	uc003cff.3	+	1	1069	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	336					multicellular organismal development	cytoplasm	zinc ion binding	p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCAGGGACGACAGGCAAT	0.612												
MINA	84864	broad.mit.edu	37	3	97686291	97686291	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:97686291G>T	uc003drz.1	-	1	653	c.147C>A	c.(145-147)atC>atA	p.I49I	MINA_uc003dsa.1_Silent_p.I49I|MINA_uc003dsb.1_Silent_p.I49I|MINA_uc003dsc.1_Silent_p.I49I|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	49					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCTCTGTCTTGATGGGCGAGA	0.488												
ALCAM	214	broad.mit.edu	37	3	105238918	105238918	+	Silent	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:105238918A>T	uc003dvx.3	+	1	777	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ALCAM_uc003dvv.3_Silent_p.G27G|ALCAM_uc003dvw.2_Silent_p.G27G|ALCAM_uc003dvy.3_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	27					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGCCTTGGATGGTATACTG	0.358												
BCHE	590	broad.mit.edu	37	3	165503999	165503999	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:165503999T>C	uc003fem.4	-	2	1778	c.1618A>G	c.(1618-1620)Acg>Gcg	p.T540A	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	540					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CGTAGTTTCGTCATTATTCTT	0.363												
PIK3CA	5290	broad.mit.edu	37	3	178916623	178916623	+	Nonsense_Mutation	SNP	C	C	T	rs1051397		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916623C>T	uc003fjk.3	+	1	167	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	4					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGCCTCCACGACCATCATC	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178916945	178916945	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916945A>G	uc003fjk.3	+	1	489	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(13)|p.K111E(12)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111R(2)|p.K111del(2)|p.K111_I112>N(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CGTGAAGAAAAGATCCTCAAT	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
WDR1	9948	broad.mit.edu	37	4	10099515	10099515	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:10099515C>T	uc021xlv.1	-	5	661	c.378_splice	c.e5-1	p.K126_splice	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	126					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCTCCAAACCTTGACCCAA	0.478												
CDKL2	8999	broad.mit.edu	37	4	76539498	76539498	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:76539498C>G	uc011cbp.2	-	2	829	c.304G>C	c.(304-306)Gta>Cta	p.V102L	CDKL2_uc003hiq.3_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	102	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTGAACTACTTGGTAGTCT	0.313												
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463												
HTR1A	3350	broad.mit.edu	37	5	63256355	63256355	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:63256355C>T	uc011cqt.2	-	0	1192	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	398					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.P397H(1)|p.P397P(1)|p.P397T(1)|p.P397N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGTAAATGACGGGGTTAAGC	0.517												
GPR98	84059	broad.mit.edu	37	5	90049615	90049615	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:90049615G>A	uc003kju.3	+	53	11442	c.11346G>A	c.(11344-11346)gcG>gcA	p.A3782A	GPR98_uc003kjt.3_Silent_p.A1488A|GPR98_uc003kjv.3_Silent_p.A1382A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3782					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCGTGCTGCGTCTGTCTTCA	0.368												
PCDHAC2	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:140222810G>A	uc003lhs.2	+	0	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	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_uc003lhr.1_Missense_Mutation_p.R635H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	646	Cadherin 6.				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)			AGCACCACTCGTGTCCTGGAC	0.647												
KIF4B	285643	broad.mit.edu	37	5	154395782	154395782	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:154395782G>A	uc010jih.1	+	0	2523	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	788	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAATCTCGGGAGAATCCA	0.438												
ME1	4199	broad.mit.edu	37	6	84056027	84056027	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:84056027A>G	uc003pjy.3	-	4	730	c.465T>C	c.(463-465)cgT>cgC	p.R155R	ME1_uc011dzb.2_Silent_p.R80R|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	155					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGCCAAGAATACGCTCTCCAT	0.428												
PRDM13	59336	broad.mit.edu	37	6	100062503	100062503	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:100062503C>T	uc003pqg.1	+	3	2253	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCGGGCGACGGCCCGGGTG	0.687												
DSE	29940	broad.mit.edu	37	6	116720360	116720360	+	Splice_Site	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:116720360G>A	uc011ebg.2	+	2	104	c.5_splice	c.e2-1	p.G2_splice	DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc003pws.3_Splice_Site|DSE_uc003pwt.3_Splice_Site	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCTCACGTAGGATCTTTCGA	0.433												
C6orf170	221322	broad.mit.edu	37	6	121427228	121427228	+	Nonsense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:121427228T>A	uc003pyo.1	-	29	3474	c.3406A>T	c.(3406-3408)Aag>Tag	p.K1136*		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1136	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AACTCAGCCTTCAGTAGCATT	0.393												
SYNE1	23345	broad.mit.edu	37	6	152660497	152660497	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:152660497T>C	uc021zhb.1	-	72	12453	c.12230A>G	c.(12229-12231)aAa>aGa	p.K4077R	SYNE1_uc003qot.4_Missense_Mutation_p.K4006R|SYNE1_uc003qou.4_Missense_Mutation_p.K4077R|SYNE1_uc010kja.2_Missense_Mutation_p.K782R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4077					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGAAGTGTTTGACCTGGAA	0.403										HNSCC(10;0.0054)		
SNX13	23161	broad.mit.edu	37	7	17861198	17861198	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:17861198C>T	uc003stv.3	-	17	1992	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	SNX13_uc010kuc.3_Silent_p.E390E|SNX13_uc003stw.1_Silent_p.E604E|SNX13_uc010kub.3_5'UTR	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	604	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCACATCTCCTCACTGTTTA	0.413												
CHN2	1124	broad.mit.edu	37	7	29407583	29407583	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:29407583A>G	uc003szz.3	+	2	561	c.124A>G	c.(124-126)Aga>Gga	p.R42G	CHN2_uc011jzs.2_Missense_Mutation_p.R117G|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R55G|CHN2_uc010kvd.3_Missense_Mutation_p.R42G|CHN2_uc011jzu.2_Missense_Mutation_p.R27G	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCGTCCCAAGAGAATCATTTG	0.403												
PLEKHA8	84725	broad.mit.edu	37	7	30088881	30088882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:30088881_30088882insA	uc003taq.3	+	4	882_883	c.480_481insA	c.(478-483)aatactfs	p.N160fs	PLEKHA8_uc022aba.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.3_Frame_Shift_Ins_p.N160fs	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	160					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAACCTGTAATACTTTTCTGAA	0.465												
CDK13	8621	broad.mit.edu	37	7	40117639	40117639	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:40117639C>T	uc003thh.4	+	9	3098	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CDK13_uc003thi.4_Missense_Mutation_p.P939L|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	939	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAGTGTGGCCTGATGTAATC	0.368												
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:56085002C>T	uc003trj.3	-	3	748	c.433G>A	c.(433-435)Gta>Ata	p.V145I	PSPH_uc003trh.3_Missense_Mutation_p.V116I|PSPH_uc003tri.3_Missense_Mutation_p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393												
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:87148696C>T	uc003uiz.2	-	23	3366	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_uc011khc.2_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.383												
SAMD9L	219285	broad.mit.edu	37	7	92761184	92761184	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:92761184T>C	uc003umh.1	-	4	5317	c.4101A>G	c.(4099-4101)ctA>ctG	p.L1367L	SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc022ahh.1_Silent_p.L1367L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1367										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTGCAGTAGGAAGGCAT	0.383												
MUC17	140453	broad.mit.edu	37	7	100685627	100685627	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:100685627A>G	uc003uxp.1	+	2	10983	c.10930A>G	c.(10930-10932)Acc>Gcc	p.T3644A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3644	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTGTCAGCACCACATCGGT	0.478												
PTPRZ1	5803	broad.mit.edu	37	7	121651361	121651361	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:121651361A>G	uc003vjy.3	+	11	2656	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	PTPRZ1_uc011knt.2_Missense_Mutation_p.N754S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.N754S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	754					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGGTATACAATGGTGAGACA	0.488												
LOC93432	93432	broad.mit.edu	37	7	141833950	141833950	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:141833950G>A	uc003vwz.3	+	6	804	c.745G>A	c.(745-747)Gag>Aag	p.E249K						Homo sapiens maltase-glucoamylase (alpha-glucosidase) pseudogene (LOC93432), non-coding RNA.																		TACCCCCACCGAGGTGAGGTG	0.532												
OR6V1	346517	broad.mit.edu	37	7	142749543	142749543	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:142749543G>A	uc011ksv.2	+	0	106	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCTTCTCGCCTTCATGGG	0.498												
IDO2	169355	broad.mit.edu	37	8	39836613	39836613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:39836613A>T	uc010lwy.1	+	3	504	c.262A>T	c.(262-264)Aag>Tag	p.K88*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	75					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGTTCCTGAAGGGTCACCG	0.637												
FBXO43	286151	broad.mit.edu	37	8	101149805	101149805	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:101149805T>C	uc003yjd.3	-	2	2398	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K	FBXO43_uc003yje.3_Silent_p.K520K|FBXO43_uc010mbp.2_Silent_p.K554K	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	554					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAATCTGTTTTCAGTTGTG	0.308												
TRPM6	140803	broad.mit.edu	37	9	77436668	77436668	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr9:77436668G>T	uc004ajl.1	-	7	1165	c.927C>A	c.(925-927)gaC>gaA	p.D309E	TRPM6_uc004ajk.1_Missense_Mutation_p.D304E|TRPM6_uc022bib.1_Missense_Mutation_p.D304E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D309E|TRPM6_uc010mpd.1_Missense_Mutation_p.D309E|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	309					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTCCTTGTCCTTGACAG	0.592												
MXRA5	25878	broad.mit.edu	37	X	3242355	3242355	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:3242355G>T	uc004crg.4	-	4	1528	c.1371C>A	c.(1369-1371)acC>acA	p.T457T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	457						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGAATACTGGGTGTAGTAGG	0.488												
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:27999353C>T	uc004dbx.1	-	0	214	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567												
GPR34	2857	broad.mit.edu	37	X	41555890	41555890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:41555890G>A	uc022bvc.1	+	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R335H|GPR34_uc004dfq.4_Missense_Mutation_p.R335H|GPR34_uc010nhg.3_Missense_Mutation_p.R335H|GPR34_uc004dfr.4_Missense_Mutation_p.R335H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	335						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTAACATTCGCAAAATAATG	0.373												
DGAT2L6	347516	broad.mit.edu	37	X	69420246	69420246	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:69420246T>A	uc004dxx.1	+	3	506	c.409T>A	c.(409-411)Ttt>Att	p.F137I		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	137					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCACTCCCTTTGTAGGGAC	0.413												
CENPI	2491	broad.mit.edu	37	X	100382542	100382542	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:100382542A>G	uc004egx.3	+	9	1232	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CENPI_uc011mrg.2_Missense_Mutation_p.E321G|CENPI_uc004egy.3_Missense_Mutation_p.E321G	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	321					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TACACTAAAGAATGTGGAAAA	0.353												
ARMCX5	64860	broad.mit.edu	37	X	101858012	101858012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858012delC	uc022cbb.1	+	0	943	c.943delC	c.(943-945)cttfs	p.L315fs	ARMCX5_uc004ejg.3_Frame_Shift_Del_p.L315fs|ARMCX5_uc022caw.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cax.1_Frame_Shift_Del_p.L315fs|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cba.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc004ejh.3_Frame_Shift_Del_p.L315fs	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	315							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTTGATAAACTTGTTGCCCT	0.388												
ARMCX5	64860	broad.mit.edu	37	X	101858029	101858029	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858029G>C	uc022cbb.1	+	0	960	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ARMCX5_uc004ejg.3_Missense_Mutation_p.K320N|ARMCX5_uc022caw.1_Missense_Mutation_p.K320N|ARMCX5_uc022cax.1_Missense_Mutation_p.K320N|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.K320N|ARMCX5_uc022cba.1_Missense_Mutation_p.K320N|ARMCX5_uc004ejh.3_Missense_Mutation_p.K320N	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	320							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTCCTTAAGTTAACTAAGG	0.383												
SLITRK4	139065	broad.mit.edu	37	X	142717642	142717642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:142717642C>T	uc022cfm.1	-	0	1283	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R428H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R428H|SLITRK4_uc004fby.3_Missense_Mutation_p.R428H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	428						integral to membrane		p.R428R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAGCCTGCGTAAATTAGT	0.358												
PASD1	139135	broad.mit.edu	37	X	150828252	150828252	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:150828252C>A	uc004fev.4	+	9	1117	c.785C>A	c.(784-786)tCt>tAt	p.S262Y		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	262						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373												
DUSP9	1852	broad.mit.edu	37	X	152915703	152915703	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:152915703G>A	uc004fhx.4	+	3	1302	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	DUSP9_uc004fhy.4_Silent_p.P366P	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	366	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAACCCGCCCTCCTTCT	0.716												
