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
MST1P9	11223	broad.mit.edu	37	1	17087593	17087593	+	Silent	SNP	C	C	T	rs12145944	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:17087593C>T	uc010ock.2	-	1	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ATGGCGAGCGCTGCCCTGCAG	0.577												
GRHL3	57822	broad.mit.edu	37	1	24669384	24669384	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:24669384G>A	uc021oiw.1	+	10	1518	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	GRHL3_uc001bix.3_Missense_Mutation_p.V430I|GRHL3_uc021oix.1_Missense_Mutation_p.V384I|GRHL3_uc001biy.3_Missense_Mutation_p.V435I|GRHL3_uc001biz.3_Missense_Mutation_p.V337I	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	430					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCATCAGGCGTCAAGGGCTG	0.632												
YTHDF2	51441	broad.mit.edu	37	1	29069013	29069013	+	Silent	SNP	G	G	A	rs11553689		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:29069013G>A	uc021okf.1	+	4	494	c.231G>A	c.(229-231)acG>acA	p.T77T	YTHDF2_uc001brc.3_Silent_p.T77T|YTHDF2_uc010ofx.2_Silent_p.T27T|YTHDF2_uc001bre.3_Silent_p.T27T	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTCTACGGGGGGTGACA	0.502												
BRDT	676	broad.mit.edu	37	1	92445139	92445139	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:92445139C>T	uc001dol.4	+	8	1530	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	BRDT_uc010osz.2_Missense_Mutation_p.T375M|BRDT_uc001dok.4_Missense_Mutation_p.T371M|BRDT_uc009wdf.3_Missense_Mutation_p.T298M|BRDT_uc010otb.2_Missense_Mutation_p.T325M|BRDT_uc010ota.2_Missense_Mutation_p.T325M|BRDT_uc001dom.4_Missense_Mutation_p.T371M	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.T371T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTTTTCGAAACGCATTTTTCA	0.318												
APH1A	51107	broad.mit.edu	37	1	150241179	150241179	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:150241179A>G	uc001ety.2	-	0	431	c.32T>C	c.(31-33)tTc>tCc	p.F11S	APH1A_uc001etz.2_Missense_Mutation_p.F11S|APH1A_uc010pbx.2_Missense_Mutation_p.F11S|APH1A_uc010pby.2_Missense_Mutation_p.F11S|APH1A_uc010pbz.2_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	11					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACGCGACGAAAGTGCAGCC	0.662												
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418												
C1orf49	400798	broad.mit.edu	37	1	178514898	178514898	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:178514898G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CAGTTTGTTCGTCAAAGGGCC	0.483												
GPR25	2848	broad.mit.edu	37	1	200842843	200842843	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:200842843G>A	uc001gvn.1	+	0	678	c.678G>A	c.(676-678)tcG>tcA	p.S226S		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	226						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCGCATCTCGCGCCGCCTGC	0.682												
DUSP10	11221	broad.mit.edu	37	1	221879666	221879666	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:221879666C>G	uc001hmy.2	-	2	1191	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DUSP10_uc001hmx.2_5'UTR|DUSP10_uc001hmz.2_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	318					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCTCAGCGTTCTCGATGTCAG	0.632												
RET	5979	broad.mit.edu	37	10	43606701	43606701	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:43606701A>T	uc001jal.3	+	6	1500	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	437					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.N437N(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGGCATCAACGTCCAGTAC	0.582		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma			
DNMBP	23268	broad.mit.edu	37	10	101716663	101716663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:101716663G>A	uc001kqj.2	-	3	660	c.568C>T	c.(568-570)Cga>Tga	p.R190*	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	190	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGCCTCTTCGGCCCTCTAAC	0.488												
MKI67	4288	broad.mit.edu	37	10	129901328	129901329	+	Frame_Shift_Del	DEL	GA	GA	-	rs61729202	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:129901328_129901329delGA	uc001lke.3	-	12	8970_8971	c.8775_8776delTC	c.(8773-8778)tctcaafs	p.S2925fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2925	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			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)				CCTGGTGTTTGAGAGAGCTCTT	0.505												
ATHL1	80162	broad.mit.edu	37	11	294169	294169	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:294169C>T	uc010qvu.2	+	11	1896	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	ATHL1_uc001lor.4_Missense_Mutation_p.A346V|ATHL1_uc001lou.4_Missense_Mutation_p.A169V|ATHL1_uc001lov.4_Missense_Mutation_p.A55V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	594					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCCTGCAGGCGGTGGTCTTC	0.652												
TNNT3	7140	broad.mit.edu	37	11	1956149	1956149	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:1956149C>T	uc001luu.4	+	14	893	c.681_splice	c.e14+1	p.D227_splice	TNNT3_uc001lun.2_Splice_Site_p.D123_splice|TNNT3_uc001luw.4_Splice_Site_p.D219_splice|TNNT3_uc001luo.4_Splice_Site_p.D219_splice|TNNT3_uc001lup.4_Splice_Site_p.D225_splice|TNNT3_uc001luq.4_Splice_Site_p.D219_splice|TNNT3_uc001lur.3_Splice_Site_p.D219_splice|TNNT3_uc010qxf.2_Splice_Site_p.D225_splice|TNNT3_uc010qxg.2_Splice_Site_p.D159_splice	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	238					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAATATGACGTGAGTCCCG	0.617												
SLC6A5	9152	broad.mit.edu	37	11	20648387	20648387	+	Missense_Mutation	SNP	C	C	T	rs146647574	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:20648387C>T	uc001mqd.3	+	8	1668	c.1395_splice	c.e8+1	p.T465_splice	SLC6A5_uc009yic.3_Splice_Site_p.T230_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	465					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562												
CHST1	8534	broad.mit.edu	37	11	45671489	45671489	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:45671489C>T	uc021qgn.1	-	0	985	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CHST1_uc001mys.2_Missense_Mutation_p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	329					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATCCAGCGGGCCACGTGGCTG	0.632												
TCN1	6947	broad.mit.edu	37	11	59629106	59629106	+	Missense_Mutation	SNP	G	G	C	rs139772818	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:59629106G>C	uc001noj.2	-	3	548	c.450C>G	c.(448-450)gaC>gaG	p.D150E		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438												
KDELC2	143888	broad.mit.edu	37	11	108352840	108352840	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:108352840G>C	uc001pkj.2	-	3	860	c.794C>G	c.(793-795)tCt>tGt	p.S265C	KDELC2_uc001pki.2_Missense_Mutation_p.S209C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	265						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGAATCCAGAGAGCCACACCA	0.453												
AMICA1	120425	broad.mit.edu	37	11	118085599	118085599	+	Translation_Start_Site	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:118085599A>T	uc001psk.2	-	1					AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_5'UTR|AMICA1_uc001psl.1_5'Flank	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.						blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAACTTTCAAATCTTAAGAT	0.393												
ALG10B	144245	broad.mit.edu	37	12	38714180	38714180	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:38714180G>A	uc001rln.4	+	2	726	c.587G>A	c.(586-588)tGt>tAt	p.C196Y		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	196					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGGAAT	0.398												
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:57442017G>A	uc001smw.4	-	1	331	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542												
SLC17A8	246213	broad.mit.edu	37	12	100787226	100787226	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:100787226G>A	uc010svi.2	+	3	866	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	SLC17A8_uc009ztx.3_Missense_Mutation_p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	185					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C184C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTACGGATGCGTCATGTGTGT	0.448												
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:38724727G>A	uc001wum.1	-	0	848	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682												
SOS2	6655	broad.mit.edu	37	14	50626273	50626273	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:50626273T>C	uc001wxs.4	-	9	1826	c.1728A>G	c.(1726-1728)gtA>gtG	p.V576V	SOS2_uc010tql.2_Silent_p.V543V|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Silent_p.V264V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	576					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTCTTTTACTACAAAACGAT	0.333												
CEP128	145508	broad.mit.edu	37	14	81223256	81223256	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:81223256G>A	uc001xux.2	-	16	2764	c.2593C>T	c.(2593-2595)Cgc>Tgc	p.R865C	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	865						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTAACCAGCGATGTGGGTCA	0.289												
KIF26A	26153	broad.mit.edu	37	14	104639702	104639702	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:104639702C>T	uc001yos.4	+	8	1719	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	573	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACCCACGGCCGAGAAGGCGG	0.692												
OR4N3P	390539	broad.mit.edu	37	15	22414053	22414053	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:22414053C>A	uc001yuf.3	+	0	592	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGTGGAGCTTCTGATGGTCTT	0.507												
SH3GL3	6457	broad.mit.edu	37	15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:84237359C>T	uc002bjw.3	+	3	461	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.3_Missense_Mutation_p.T20M|SH3GL3_uc002bju.3_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507												
UNC45A	55898	broad.mit.edu	37	15	91483616	91483616	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:91483616G>C	uc002bqg.3	+	5	940	c.600G>C	c.(598-600)ttG>ttC	p.L200F	UNC45A_uc002bqd.3_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	200					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCAGCTCTTGCAACGTTTAC	0.567												
SEZ6L2	26470	broad.mit.edu	37	16	29884701	29884701	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr16:29884701G>A	uc010vec.2	-	13	2593	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.4_Missense_Mutation_p.T713M|SEZ6L2_uc002duq.4_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.2_Missense_Mutation_p.T739M|SEZ6L2_uc002dus.4_Missense_Mutation_p.T669M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	783	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGTACAGCGTCTGGTAGCC	0.622												
MYH1	4619	broad.mit.edu	37	17	10406199	10406199	+	Silent	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:10406199C>A	uc002gmo.3	-	23	3061	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	989						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTCATCCAGACCCGCCA	0.507												
SLFN13	146857	broad.mit.edu	37	17	33767745	33767745	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:33767745G>A	uc002hjk.1	-	3	2893	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	855						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAATCGCCGGACACTGTCC	0.483												
KRTAP1-3	81850	broad.mit.edu	37	17	39190659	39190659	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:39190659C>T	uc002hvv.3	-	0	449	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	149				TP -> HT (in Ref. 1; CAA44938).		extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGGCCTCGGCGTGGTGCAGC	0.652												
OR4D2	124538	broad.mit.edu	37	17	56247206	56247206	+	Nonsense_Mutation	SNP	C	C	T	rs148589207		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:56247206C>T	uc010wnp.2	+	0	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTTCTGCTCCGAAACCTGGC	0.483												
EPB41L3	23136	broad.mit.edu	37	18	5395100	5395100	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:5395100A>G	uc002kmt.1	-	20	3205	c.3119T>C	c.(3118-3120)gTc>gCc	p.V1040A	EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1040	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCGTGATGACTATTCGCTT	0.448												
MC5R	4161	broad.mit.edu	37	18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:13826447C>T	uc010xaf.2	+	0	905	c.683C>T	c.(682-684)gCg>gTg	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.A228T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCAGCTCTGCGCGGCAGAGG	0.612												
CDH19	28513	broad.mit.edu	37	18	64218345	64218345	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:64218345G>A	uc002lkc.1	-	4	899	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.3_Missense_Mutation_p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	254	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTAAATATAGGCTTATTGTC	0.294												
NFIX	4784	broad.mit.edu	37	19	13189498	13189498	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:13189498C>T	uc010xmx.2	+	6	1104	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	NFIX_uc002mwd.3_Missense_Mutation_p.R343C|NFIX_uc002mwe.3_Missense_Mutation_p.R335C|NFIX_uc002mwf.3_Intron|NFIX_uc002mwg.2_Missense_Mutation_p.R342C			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	343					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGCTCCCCGCGCATGGCTTT	0.642												
CYP4F22	126410	broad.mit.edu	37	19	15648390	15648390	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:15648390C>T	uc002nbh.4	+	5	633	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAGCCGGCACCGTCGCCTGCT	0.542												
UPF1	5976	broad.mit.edu	37	19	18968250	18968250	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:18968250G>A	uc002nkg.3	+	14	2398	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	UPF1_uc002nkf.3_Missense_Mutation_p.R697H|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCCATCCGCCTGCAGGTC	0.642												
ATP13A1	57130	broad.mit.edu	37	19	19758484	19758484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:19758484delC	uc002nnh.4	-	19	2745	c.2717delG	c.(2716-2718)ggcfs	p.G906fs	ATP13A1_uc002nne.3_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.4_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.3_Frame_Shift_Del_p.G788fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	906					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGATGCCACTGTTGCT	0.697												
ZNF676	163223	broad.mit.edu	37	19	22363727	22363727	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:22363727G>A	uc002nqs.1	-	2	1110	c.792C>T	c.(790-792)agC>agT	p.S264S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398												
RPSA	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567												
FAM187B	148109	broad.mit.edu	37	19	35719014	35719014	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:35719014G>A	uc002nyk.1	-	0	615	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	190						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCGCAAGCGGCTAGACCACA	0.577												
RYR1	6261	broad.mit.edu	37	19	39051893	39051893	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:39051893C>T	uc002oit.3	+	89	12553	c.12423C>T	c.(12421-12423)aaC>aaT	p.N4141N	RYR1_uc002oiu.3_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4141					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGGCTTCAACGTGGCGGTGC	0.592												
CYP2B6	1555	broad.mit.edu	37	19	41512823	41512823	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:41512823C>T	uc002opr.1	+	3	505	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	166					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCCTCATGGACCCCACCTTCC	0.512												
MYH14	79784	broad.mit.edu	37	19	50812362	50812362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:50812362G>A	uc010enu.1	+	41	5935	c.5888G>A	c.(5887-5889)cGt>cAt	p.R1963H	MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc002prr.1_Missense_Mutation_p.R1922H|MYH14_uc010ycb.2_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1922					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCTGCAGCGTGAGCTGGAA	0.632												
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	C	T	rs141591921		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:58579130C>T	uc002qrg.3	+	3	1353	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	ZNF135_uc002qre.3_Silent_p.T426T|ZNF135_uc002qrf.3_Silent_p.T384T|ZNF135_uc010yhq.2_Silent_p.T438T|ZNF135_uc010yhr.2_Silent_p.T247T|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547												
APOB	338	broad.mit.edu	37	2	21233457	21233457	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:21233457C>T	uc002red.3	-	25	6411	c.6283G>A	c.(6283-6285)Gta>Ata	p.V2095I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2095	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTCTGTACGTTTTCCAGT	0.368												
TMEM150A	129303	broad.mit.edu	37	2	85828199	85828199	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:85828199C>G	uc002spy.2	-	3	354	c.145G>C	c.(145-147)Gct>Cct	p.A49P	USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_5'UTR|TMEM150A_uc002spz.2_Silent_p.L18L	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCTTGCTCAGCAGGGTCAGGA	0.642												
BAZ2B	29994	broad.mit.edu	37	2	160241783	160241783	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:160241783T>C	uc002uao.3	-	22	3974	c.3569A>G	c.(3568-3570)cAa>cGa	p.Q1190R	BAZ2B_uc002uap.3_Missense_Mutation_p.Q1154R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGCTCAGTTTGTCCACAGTG	0.438												
ARPC2	10109	broad.mit.edu	37	2	219103491	219103492	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:219103491_219103492delTT	uc002vhd.3	+	5	485_486	c.373_374delTT	c.(373-375)tttfs	p.F125fs	ARPC2_uc002vhe.3_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.3_Frame_Shift_Del_p.F11fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	125					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	p.V124V(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCTCTGTCTTTGAAAAATAC	0.416												
UGT1A1	54579	broad.mit.edu	37	2	234621782	234621782	+	Missense_Mutation	SNP	C	C	T	rs41270755	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:234621782C>T	uc002vuw.3	+	0	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.R49W	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	48					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGAGGCCTTGCGGGACCTCCA	0.582												
RSPO4	343637	broad.mit.edu	37	20	944738	944738	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:944738G>A	uc002wej.3	-	3	535	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	145	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.G145G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCTCCAGCCGCCCCAGGGAC	0.652												
FAM83C	128876	broad.mit.edu	37	20	33880014	33880014	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:33880014G>A	uc021wck.1	-	0	212	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	32								p.R32R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGCTCTCCCGCCACCACGGC	0.746												
HNF4A	3172	broad.mit.edu	37	20	43052742	43052742	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43052742G>A	uc002xma.3	+	7	1066	c.977G>A	c.(976-978)cGc>cAc	p.R326H	HNF4A_uc002xlt.3_Missense_Mutation_p.R304H|HNF4A_uc002xlu.3_Missense_Mutation_p.R304H|HNF4A_uc002xlv.3_Missense_Mutation_p.R304H|HNF4A_uc002xly.3_Missense_Mutation_p.R326H|HNF4A_uc010ggq.3_Missense_Mutation_p.R319H|HNF4A_uc002xlz.3_Missense_Mutation_p.R326H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	326					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATCAACGACCGCCAGTATGAC	0.582												
SEMG2	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418												
CBR1	873	broad.mit.edu	37	21	37442646	37442646	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:37442646G>A	uc002yvb.1	+	0	362	c.233G>A	c.(232-234)cGc>cAc	p.R78H	LOC100133286_uc011aea.1_Non-coding_Transcript|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	78					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	GACTTCCTGCGCAAGGAGTAC	0.672												
RIPK4	54101	broad.mit.edu	37	21	43161157	43161157	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:43161157G>A	uc002yzn.1	-	7	2244	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	732						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCCTGCTCGTCGAACAGGT	0.692												
C21orf58	54058	broad.mit.edu	37	21	47738114	47738114	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47738114C>A	uc002zjf.3	-	1	1254	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	C21orf58_uc002ziz.3_5'UTR|C21orf58_uc002zja.3_5'UTR|C21orf58_uc002zjc.3_5'UTR|C21orf58_uc011afx.2_5'UTR|C21orf58_uc010gqj.2_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	41										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCAGGGCGGGCCTTACCTCCT	0.652												
DIP2A	23181	broad.mit.edu	37	21	47954567	47954567	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47954567C>T	uc002zjo.2	+	12	1792	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.3_Missense_Mutation_p.R537W|DIP2A_uc002zjm.3_Missense_Mutation_p.R537W|DIP2A_uc010gql.3_Missense_Mutation_p.R494W|DIP2A_uc002zjn.3_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W|Metazoa_SRP_uc021wkb.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	537					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGTGCCGGGCTCTGAC	0.562												
IGLL3P	91353	broad.mit.edu	37	22	25713968	25713968	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr22:25713968C>T	uc021wnj.1	+											Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						CTCAGCCACACGGCACAGCTG	0.592												
WDR82	80335	broad.mit.edu	37	3	52304745	52304745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:52304745C>G	uc003ddl.2	-	1	524	c.242G>C	c.(241-243)aGc>aCc	p.S81T	WDR82_uc003ddk.2_5'Flank|MIRLET7G_uc011bee.2_5'Flank	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	81					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTTGTTAGAGCTGTAAACAAC	0.378												
DNAH12	201625	broad.mit.edu	37	3	57493505	57493505	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:57493505G>A	uc003dit.2	-	7	943	c.762C>T	c.(760-762)aaC>aaT	p.N254N	DNAH12_uc003diu.2_Silent_p.N254N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	254	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTCTTCTGCGTTTCTAGTTT	0.333												
EFCAB12	90288	broad.mit.edu	37	3	129130070	129130070	+	Silent	SNP	C	C	T	rs117403753	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:129130070C>T	uc003emg.3	-	4	1129	c.966G>A	c.(964-966)acG>acA	p.T322T		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TCATGGGCCGCGTCTCCATCT	0.637												
AADACL2	344752	broad.mit.edu	37	3	151475339	151475339	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:151475339G>A	uc003ezc.3	+	4	1283	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.R175K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	388						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAGGTCTTAGGATAAGAGAT	0.328												
PIK3CA	5290	broad.mit.edu	37	3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:178952152A>G	uc003fjk.3	+	20	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	0					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.N1068fs*4(15)|p.*1069_*1069insWKDN*(6)|p.N1068fs*5(2)|p.*1069W(1)|p.*1069fs*3(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)			CATTGAACTGAAAAGATAACT	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
GABRG1	2565	broad.mit.edu	37	4	46043099	46043099	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:46043099C>T	uc003gxb.3	-	8	1456	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGGCAATGCGTATGTGTAT	0.403												
FRYL	285527	broad.mit.edu	37	4	48536560	48536560	+	Splice_Site	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:48536560A>C	uc003gyh.1	-	49	7310	c.6705_splice	c.e49+1	p.Q2235_splice	FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2235					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						gtggtcacTCACCTGTACATA	0.343												
UGT2B28	54490	broad.mit.edu	37	4	70160487	70160487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:70160487G>A	uc003hej.3	+	5	1552	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	517					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTGTTTCTGGAAGTTTGCT	0.413												
ANKRD17	26057	broad.mit.edu	37	4	73959897	73959897	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:73959897T>C	uc003hgp.3	-	27	5343	c.5226A>G	c.(5224-5226)ggA>ggG	p.G1742G	ANKRD17_uc003hgo.3_Silent_p.G1629G|ANKRD17_uc003hgq.3_Silent_p.G1491G|ANKRD17_uc003hgr.3_Silent_p.G1741G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1742	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCTCCTCTTCCAATCACTC	0.333												
TRAM1L1	133022	broad.mit.edu	37	4	118005491	118005491	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:118005491T>G	uc003ibv.4	-	0	1246	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	353					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTGAAGTTTCCACTCCCA	0.393												
TKTL2	84076	broad.mit.edu	37	4	164394680	164394680	+	Silent	SNP	G	G	A	rs114941835	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:164394680G>A	uc003iqp.4	-	0	368	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	69						cytoplasm	metal ion binding|transketolase activity	p.N69K(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557												
IRX2	153572	broad.mit.edu	37	5	2749815	2749815	+	Silent	SNP	G	G	A	rs138413279	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:2749815G>A	uc003jda.3	-	1	578	c.336C>T	c.(334-336)ctC>ctT	p.L112L	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.L112L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682												
UGT3A2	167127	broad.mit.edu	37	5	36036029	36036029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:36036029G>A	uc003jjz.2	-	6	1475	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	UGT3A2_uc011cos.2_Missense_Mutation_p.P414L|UGT3A2_uc011cot.2_Missense_Mutation_p.P146L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	448						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGGCTGAGCGGGTGGGAGCG	0.597												
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:45303809G>A	uc003jok.3	-	5	1535	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	504						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R504*(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403												
P4HA2	8974	broad.mit.edu	37	5	131544873	131544873	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:131544873C>T	uc003kwh.3	-	6	1425	c.861G>A	c.(859-861)agG>agA	p.R287R	P4HA2_uc003kwg.3_Silent_p.R287R|P4HA2_uc003kwi.3_Silent_p.R287R|P4HA2_uc003kwk.3_Silent_p.R287R|P4HA2_uc003kwl.3_Silent_p.R287R|P4HA2_uc003kwj.3_Silent_p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	287						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.R287R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGTAAACATCCCTCTCAGGCA	0.542												
PCDH12	51294	broad.mit.edu	37	5	141336339	141336339	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:141336339G>C	uc003llx.3	-	0	2289	c.1078C>G	c.(1078-1080)Cca>Gca	p.P360A		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	360	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGATGGCTGGGAGGCC	0.507												
PDE6A	5145	broad.mit.edu	37	5	149265912	149265912	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:149265912G>A	uc003lrg.4	-	13	1874	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PDE6A_uc021yfs.1_Missense_Mutation_p.T504M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	585					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCTAGGTCCGTGAAGTAGCG	0.532												
FAM71B	153745	broad.mit.edu	37	5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:156590194G>A	uc003lwn.3	-	1	1182	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	361						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567												
GABRB2	2561	broad.mit.edu	37	5	160721114	160721114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:160721114C>T	uc003lys.1	-	10	1731	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	505					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCCAATAGACGATGTTGAAG	0.453												
KIF13A	63971	broad.mit.edu	37	6	17779855	17779855	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:17779855C>T	uc003ncg.4	-	31	4067	c.3907G>A	c.(3907-3909)Gta>Ata	p.V1303I	KIF13A_uc003ncf.3_Missense_Mutation_p.V1290I|KIF13A_uc003nch.4_Missense_Mutation_p.V1303I|KIF13A_uc003nci.4_Missense_Mutation_p.V1290I|KIF13A_uc003nce.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1303					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATAGGTTACACCACAGGAA	0.383												
DEF6	50619	broad.mit.edu	37	6	35280250	35280250	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:35280250C>T	uc003okk.3	+	3	634	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DEF6_uc010jvs.3_Missense_Mutation_p.R199W|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	199						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGCGTGGGCCGGGACACCCT	0.652												
MOCS1	4337	broad.mit.edu	37	6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:39877612C>T	uc003opb.3	-	7	1207	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_uc003opa.3_Missense_Mutation_p.A357T|MOCS1_uc003opd.3_Missense_Mutation_p.A357T|MOCS1_uc003ope.3_Missense_Mutation_p.A270T	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622												
KIAA1244	57221	broad.mit.edu	37	6	138531138	138531138	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:138531138C>T	uc003qhu.3	+	3	482	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	104					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGAAAGTGACGCCTTCGCTC	0.502												
IGF2R	3482	broad.mit.edu	37	6	160501272	160501272	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:160501272A>G	uc003qta.3	+	38	5946	c.5798A>G	c.(5797-5799)tAc>tGc	p.Y1933C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1933	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTGCGGACTACGACAGAGAC	0.577												
SCIN	85477	broad.mit.edu	37	7	12683930	12683930	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:12683930C>T	uc003ssn.4	+	11	1959	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Silent_p.G336G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	583	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCAAGAAGGCGAGGAGCCAG	0.448												
IKZF1	10320	broad.mit.edu	37	7	50467929	50467929	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:50467929G>A	uc003tow.4	+	7	1319	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	IKZF1_uc022acq.1_Silent_p.A245A|IKZF1_uc003tpa.4_Silent_p.A153A|IKZF1_uc022acr.1_Silent_p.A163A|IKZF1_uc022acs.1_Silent_p.A118A|IKZF1_uc022act.1_Silent_p.A291A|IKZF1_uc022acu.1_Silent_p.A301A|IKZF1_uc003tox.4_Silent_p.A346A|IKZF1_uc022acv.1_Silent_p.A249A|IKZF1_uc022acw.1_Silent_p.A259A|IKZF1_uc022acx.1_Silent_p.A301A|IKZF1_uc022acy.1_Silent_p.A195A|IKZF1_uc022acz.1_Silent_p.A205A|IKZF1_uc011kck.2_Silent_p.A301A|IKZF1_uc003toy.4_Silent_p.A346A|IKZF1_uc003toz.4_Silent_p.A358A|IKZF1_uc010kyx.3_Silent_p.A128A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	388					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCGCGAGGCGTCCCCGAGCA	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""							
EGFR	1956	broad.mit.edu	37	7	55221765	55221765	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:55221765A>G	uc003tqk.3	+	6	1055	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	EGFR_uc003tqh.3_Missense_Mutation_p.Y270C|EGFR_uc003tqi.3_Missense_Mutation_p.Y270C|EGFR_uc003tqj.3_Missense_Mutation_p.Y270C|EGFR_uc022adm.1_Missense_Mutation_p.Y270C|EGFR_uc010kzg.2_Missense_Mutation_p.Y225C|EGFR_uc022adn.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.2_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	270					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTCATGCTCTACAACCCCACC	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
AZGP1	563	broad.mit.edu	37	7	99565820	99565820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:99565820G>A	uc003ush.3	-	2	663	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	191					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGTATTTCCGCAGAGTCGCA	0.552												
OR6V1	346517	broad.mit.edu	37	7	142749461	142749461	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:142749461C>T	uc011ksv.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(3)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCAGCCCTCCGAATTTGTCC	0.517												
CNTNAP2	26047	broad.mit.edu	37	7	147259237	147259237	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:147259237C>T	uc003weu.2	+	11	2301	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	595	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGCTATCTACGAGCCTTCCT	0.448										HNSCC(39;0.1)		
SSPO	23145	broad.mit.edu	37	7	149489760	149489760	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:149489760A>C	uc010lpk.3	+	37	5807	c.5807A>C	c.(5806-5808)aAc>aCc	p.N1936T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1939	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCCAACAACCCCCGCCCC	0.692												
PRKDC	5591	broad.mit.edu	37	8	48805878	48805878	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:48805878G>A	uc003xqi.3	-	30	3725	c.3668C>T	c.(3667-3669)aCc>aTc	p.T1223I	PRKDC_uc003xqj.3_Missense_Mutation_p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1223					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCCCTCAAAGGTGTTGATGAG	0.522								Non-homologous end-joining				
PENK	5179	broad.mit.edu	37	8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:57353950G>A	uc003xsz.2	-	1	766	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_uc003xta.3_Missense_Mutation_p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	229					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R229W(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517												
OXR1	55074	broad.mit.edu	37	8	107722899	107722899	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:107722899G>T	uc011lht.2	+	8	1776	c.1677G>T	c.(1675-1677)ttG>ttT	p.L559F	OXR1_uc022azp.1_Missense_Mutation_p.L558F|OXR1_uc003ymf.3_Missense_Mutation_p.L558F|OXR1_uc011lhu.2_Missense_Mutation_p.L551F|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L256F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	559					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAGTTCTTGTGTCTCAGAG	0.358												
ST3GAL1	6482	broad.mit.edu	37	8	134488106	134488106	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:134488106G>C	uc003yuk.2	-	4	991	c.162C>G	c.(160-162)atC>atG	p.I54M	ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	54					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCTGTGCTTGATCAGTCTCT	0.597												
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:16436735C>T	uc003zml.3	-	5	1597	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_uc011lmw.2_Missense_Mutation_p.R391H|BNC2_uc003zmm.3_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.2_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.3_Missense_Mutation_p.R251H|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463												
C9orf64	84267	broad.mit.edu	37	9	86559803	86559803	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:86559803A>T	uc004anb.3	-	2	947	c.699T>A	c.(697-699)agT>agA	p.S233R	C9orf64_uc004anc.3_Missense_Mutation_p.S92R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACATGGTGATACTGGAGATGT	0.428												
HDHD3	81932	broad.mit.edu	37	9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:116136378G>A	uc022bme.1	-	0	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_uc004bhi.1_Missense_Mutation_p.A86V|HDHD3_uc004bhk.3_Missense_Mutation_p.A86V	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	86							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617												
FAM129B	64855	broad.mit.edu	37	9	130272452	130272452	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:130272452G>A	uc004brh.3	-	8	1336	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	FAM129B_uc004bri.3_Silent_p.N365N|FAM129B_uc004brj.4_Silent_p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	378							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCGCCCTCGTTGATGACGT	0.637												
TOR4A	54863	broad.mit.edu	37	9	140173549	140173549	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:140173549C>T	uc022bqh.1	+	0	408	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TOR4A_uc004cmn.3_Silent_p.N136N	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	136					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										AAGTTCTCAACGCTATCGAGA	0.662												
ZMYM3	9203	broad.mit.edu	37	X	70469493	70469493	+	Silent	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:70469493G>T	uc004dzh.2	-	6	1467	c.1288C>A	c.(1288-1290)Cgg>Agg	p.R430R	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.R430R|ZMYM3_uc004dzj.2_Silent_p.R430R|ZMYM3_uc011mpu.2_Silent_p.R161R|ZMYM3_uc004dzl.4_Silent_p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	430					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.H429P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCCGGTGTACCACG	0.587												
COL4A6	1288	broad.mit.edu	37	X	107431199	107431199	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:107431199A>T	uc004enw.4	-	21	1752	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H	COL4A6_uc004env.4_Missense_Mutation_p.L549H|COL4A6_uc011msn.2_Missense_Mutation_p.L549H|COL4A6_uc010npk.3_Missense_Mutation_p.L549H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	550	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATTGTACTGAGAATTGGTTC	0.512									Alport syndrome with Diffuse Leiomyomatosis			
DCAF12L1	139170	broad.mit.edu	37	X	125685359	125685359	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:125685359G>A	uc022cds.1	-	0	1233	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	DCAF12L1_uc004eul.3_Silent_p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	411										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATTGTGGTTGAGCCAGCCTC	0.552												
