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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141754683C>T	uc003vwy.3	+	26	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000														23			17		0	0	0.004990	0	0
ABL1	25	broad.mit.edu	37	9	133755498	133755498	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:133755498C>T	uc004bzw.3	+	8	1470	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	ABL1_uc004bzv.3_Silent_p.I508I	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	489	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TTGCTGAAATCCACCAAGCCT	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									51			37		0	0	0.010771	0	0
CPNE5	57699	broad.mit.edu	37	6	36710090	36710090	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:36710090G>A	uc003omr.1	-	20	1804	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	CPNE5_uc003omp.1_Silent_p.S287S|CPNE5_uc010jwn.1_Silent_p.S229S|CPNE5_uc003omq.1_Silent_p.S229S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	579										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCGGGCTGGGGACTGCGAGG	0.677000														70			33		0	0	0.005524	0	0
PTX4	390667	broad.mit.edu	37	16	1536065	1536065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:1536065C>T	uc010uvf.2	-	2	1297	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	438	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTGCAACTTCCCCGGGAACC	0.622000														26			16		0	0	0.004007	0	0
SATB1	6304	broad.mit.edu	37	3	18393686	18393686	+	Splice_Site	SNP	C	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:18393686C>G	uc003cbh.3	-	10	3311	c.1576_splice	c.e10-1	p.G526_splice	SATB1_uc003cbi.3_Splice_Site_p.G526_splice|SATB1_uc003cbj.3_Splice_Site_p.G526_splice	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	526					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCACAACCATCCCTTAGAGAC	0.453000														16			13		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9068901	9068901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:9068901C>T	uc002mkp.3	-	2	18749	c.18545G>A	c.(18544-18546)gGa>gAa	p.G6182E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6184	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGAGTTCCTGCTGAGGT	0.468000														29			21		0	0	0.010504	0	0
WDR7	23335	broad.mit.edu	37	18	54606596	54606596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:54606596C>T	uc002lgk.1	+	24	4247	c.4036C>T	c.(4036-4038)Ctt>Ttt	p.L1346F	WDR7_uc002lgl.1_Missense_Mutation_p.L1313F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1346										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAGAAAGGTCTTCAAGAATG	0.299000														36			16		0	0	0.010504	0	0
BDH1	622	broad.mit.edu	37	3	197260398	197260398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:197260398G>A	uc003fxr.3	-	3	520	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	BDH1_uc003fxs.3_Missense_Mutation_p.P40S|BDH1_uc003fxu.3_Missense_Mutation_p.P40S	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	40					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CGGCCAATCGGGATAAAGGAA	0.572000														20			16		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179650658	179650658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179650658C>T	uc021vsy.1	-	13	2512	c.2287G>A	c.(2287-2289)Gca>Aca	p.A763T	TTN_uc021vsz.1_Missense_Mutation_p.A717T|TTN_uc021vta.1_Missense_Mutation_p.A717T|TTN_uc021vtb.1_Missense_Mutation_p.A717T|TTN_uc002unb.2_Missense_Mutation_p.A763T|TTN_uc010frg.1_Missense_Mutation_p.A345T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	763							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTGACTGCTTTAGGGACA	0.493000														25			22		0	0	0.010504	0	0
RBBP8	5932	broad.mit.edu	37	18	20529644	20529644	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:20529644C>T	uc002kua.3	+	3	339	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RBBP8_uc002ktw.3_Silent_p.V72V|RBBP8_uc002kty.3_Silent_p.V72V|RBBP8_uc002ktz.3_Silent_p.V72V|RBBP8_uc002ktx.1_Silent_p.V72V	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	72					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCAGAAAGTCCTTCATGAAA	0.343000								Homologous recombination						40			31		0	0	0.003271	0	0
KRT79	338785	broad.mit.edu	37	12	53227901	53227901	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:53227901G>A	uc001sbb.3	-	0	177	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	48	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCACAGTGGGCCCCGCCAC	0.652000														33			10		0	0	0.006214	0	0
ISX	91464	broad.mit.edu	37	22	35478599	35478599	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:35478599C>T	uc003anj.3	+	1	1269	c.318C>T	c.(316-318)taC>taT	p.Y106Y		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TTACCCACTACCCAGACGTTC	0.587000														24			23		0	0	0.012319	0	0
OR6C75	390323	broad.mit.edu	37	12	55759573	55759573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55759573C>T	uc010spk.2	+	0	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTGAAAATTCCTTCTATGAG	0.383000														25			23		0	0	0.014323	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714112	26714112	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:26714112C>T	uc001mra.2	-	8	1390	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.V359V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	359					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCTCAAAGGTCACTGTTGCCA	0.478000														27			14		0	0	0.004007	0	0
HEPH	9843	broad.mit.edu	37	X	65486289	65486289	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:65486289C>T	uc011moz.2	+	20	3551	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	HEPH_uc004dwn.3_Silent_p.P1086P|HEPH_uc004dwo.3_Silent_p.P817P|HEPH_uc010nkr.3_Silent_p.P895P|HEPH_uc011mpa.2_Silent_p.P1087P	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1084					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCAGTGCCCCCCAGAGACA	0.433000														1			14		0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10951412	10951412	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:10951412G>A	uc002yip.1	-	9	668	c.300C>T	c.(298-300)ttC>ttT	p.F100F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F82F|TPTE_uc002yir.1_Silent_p.F62F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	100					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAGACCAGGAAAACTCCAA	0.333000														66			30		0	0	0.007291	0	0
NPHS2	7827	broad.mit.edu	37	1	179523637	179523637	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:179523637C>T	uc001gmq.4	-	5	853	c.768G>A	c.(766-768)tgG>tgA	p.W256*	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Nonsense_Mutation_p.W188*|AXDND1_uc001gmr.3_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	256					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTTGATTCCCCAAATACAGG	0.408000														95			22		0	0	0.004656	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511190	75511190	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:75511190C>T	uc003udw.1	+	1	306	c.222C>T	c.(220-222)atC>atT	p.I74I	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	74						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						AGAATCCCATCTCCCTGCTCT	0.582000														59			32		0	0	0.013726	0	0
CPZ	8532	broad.mit.edu	37	4	8621229	8621229	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:8621229A>G	uc003glm.3	+	10	2018	c.1844A>G	c.(1843-1845)gAg>gGg	p.E615G	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E604G|CPZ_uc003gln.3_Missense_Mutation_p.E478G	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	615					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGGCCACGGAGCCCGACCCG	0.677000														0			25		0	0	0.006320	0	0
OSBPL5	114879	broad.mit.edu	37	11	3123489	3123489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:3123489G>A	uc001lxk.2	-	11	1507	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	OSBPL5_uc010qxq.1_Missense_Mutation_p.P361L|OSBPL5_uc009ydw.2_Missense_Mutation_p.P382L|OSBPL5_uc001lxl.2_Missense_Mutation_p.P382L|OSBPL5_uc009ydx.3_Missense_Mutation_p.P474L	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	450					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding	p.N449N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCCAGGATGGGGTTGTACGG	0.592000														4			6		0	0	0.004482	0	0
EPHB6	2051	broad.mit.edu	37	7	142568295	142568296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142568295_142568296CC>TT	uc011kst.2	+	18	3601_3602	c.2814_2815CC>TT	c.(2812-2817)gccctt>gcTTtt	p.L939F	EPHB6_uc011ksu.2_Missense_Mutation_p.L939F|EPHB6_uc003wbs.3_Missense_Mutation_p.L647F|EPHB6_uc003wbt.3_Missense_Mutation_p.L413F|EPHB6_uc003wbu.3_Missense_Mutation_p.L647F|EPHB6_uc003wbv.3_Missense_Mutation_p.L323F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	939						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTTCCCAGGCCCTTCTGACCCC	0.564000														43			38		0	0	0.004672	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420886	55420886	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420886C>T	uc001sgp.4	+	1	1041	c.663C>T	c.(661-663)ctC>ctT	p.L221L	NEUROD4_uc021qyr.1_Silent_p.L221L	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	221					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAACACATCTCCTTCATCTCA	0.493000														29			24		0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179636110	179636110	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179636110G>A	uc021vsy.1	-	33	8169	c.7944C>T	c.(7942-7944)tcC>tcT	p.S2648S	TTN_uc021vsz.1_Silent_p.S2602S|TTN_uc021vta.1_Silent_p.S2602S|TTN_uc021vtb.1_Silent_p.S2602S|TTN_uc002unb.2_Silent_p.S2648S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2648	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCGCCTTTGGAATCTGGGT	0.493000														29			33		0	0	0.012213	0	0
ESRRG	2104	broad.mit.edu	37	1	216850545	216850545	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:216850545C>T	uc001hkw.2	-	1	518	c.345G>A	c.(343-345)aaG>aaA	p.K115K	ESRRG_uc009xdp.1_Silent_p.K92K|ESRRG_uc001hky.1_Silent_p.K92K|ESRRG_uc001hkz.2_Silent_p.K92K|ESRRG_uc010puc.2_Silent_p.K92K|ESRRG_uc001hla.2_Silent_p.K92K|ESRRG_uc001hlb.2_Silent_p.K92K|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Silent_p.K92K|ESRRG_uc001hld.1_Silent_p.K92K|ESRRG_uc001hkx.2_Silent_p.K120K|ESRRG_uc009xdo.2_Silent_p.K92K|ESRRG_uc001hle.2_Silent_p.K92K|ESRRG_uc021piz.1_Silent_p.K92K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	115					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTATTCACACTTGGTCTGGG	0.512000														48			122		0	0	0.014410	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:143792319G>A	uc011kty.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000														39			26		0	0	0.003954	0	0
CACNG7	59284	broad.mit.edu	37	19	54445290	54445290	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:54445290G>A	uc002qcr.2	+	5	666	c.571_splice	c.e5-1	p.G191_splice		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	191				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTGCCGCAGGGGGCCGGCGT	0.672000														8			4		0	0	0.000602	0	0
IRS1	3667	broad.mit.edu	37	2	227660787	227660787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:227660787G>A	uc021vxn.1	-	0	2668	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S	IRS1_uc002voh.4_Missense_Mutation_p.P890S	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	890					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCTCTTGGGCTCTGGAGGG	0.617000														25			36		0	0	0.003271	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:10967706T>A	uc003bvz.3	+	8	1171	c.1137T>A	c.(1135-1137)ttT>ttA	p.F379L		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F379F(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCCTGGCCTTTATTGCGTACC	0.557000														119			102		0	0	0.014410	0	0
ZNF213	7760	broad.mit.edu	37	16	3187497	3187497	+	Silent	SNP	C	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:3187497C>G	uc010uws.2	+	1	663	c.216C>G	c.(214-216)cgC>cgG	p.R72R	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.R72R|ZNF213_uc010bth.3_Silent_p.R72R|ZNF213_uc010uwt.2_Silent_p.R72R	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	72	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TCTGCTGCCGCTGGCTGCGGC	0.657000														22			14		0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410418	105410418	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:105410418G>A	uc010axc.1	-	6	11490	c.11370C>T	c.(11368-11370)tcC>tcT	p.S3790S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S3690S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3790						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCCAGGGACAGGTCCC	0.577000														110			76		0	0	0.014410	0	0
NOVA1	4857	broad.mit.edu	37	14	26917300	26917300	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:26917300G>A	uc001wqa.3	-	5	1809	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NOVA1_uc001wpy.3_Silent_p.F463F|NOVA1_uc001wpz.3_Silent_p.F439F	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	466	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCCAGGTACGAATTCTCCTT	0.423000														18			22		0	0	0.010504	0	0
KCNH1	3756	broad.mit.edu	37	1	210977359	210977359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:210977359C>T	uc001hib.2	-	7	1782	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	KCNH1_uc001hic.2_Missense_Mutation_p.D511N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	538					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACAATATAATCCATTACTCGC	0.468000														29			84		0	0	0.014410	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:118997498C>T	uc004bjn.3	+	6	2695	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_uc011lxp.1_Missense_Mutation_p.P467S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	772					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACACGGTTCCTCCAGCCTG	0.562000														27			27		0	0	0.003954	0	0
ZNF534	147658	broad.mit.edu	37	19	52941068	52941068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:52941068G>A	uc002pzk.3	+	3	461	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.E119K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACATCTGACTGAATGGCAGCC	0.348000														20			9		0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55534033	55534033	+	Silent	SNP	G	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:55534033G>C	uc003xsd.1	+	1	655	c.507G>C	c.(505-507)gcG>gcC	p.A169A	RP1_uc011ldy.1_Silent_p.A169A	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	169	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.R168H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGAGGCGTGCGGTTCTTCTGA	0.647000														65			48		0	0	0.014410	0	0
PRKG1	5592	broad.mit.edu	37	10	54040626	54040626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:54040626G>A	uc001jjm.3	+	12	1664	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	PRKG1_uc001jjo.3_Missense_Mutation_p.G494E|PRKG1_uc009xow.2_Missense_Mutation_p.G197E|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	479	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CATTCCAAAGGAATCATTTAC	0.438000														24			27		0	0	0.007291	0	0
ODZ1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:123654524C>T	uc010nqy.3	-	17	3208	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1048					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACAGGAATCGTTGAATGTG	0.493000														2			39		0	0	0.013114	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614438	112614438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:112614438C>T	uc002thi.3	-	11	1631	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGGTTTTATCATTACTCTCT	0.358000														21			5		0	0	0.001168	0	0
VPS13C	54832	broad.mit.edu	37	15	62211588	62211588	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:62211588T>C	uc002agz.3	-	57	7629	c.7538A>G	c.(7537-7539)tAt>tGt	p.Y2513C	VPS13C_uc002aha.3_Missense_Mutation_p.Y2470C|VPS13C_uc002ahb.2_Missense_Mutation_p.Y2513C|VPS13C_uc002ahc.2_Missense_Mutation_p.Y2470C|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2513					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCGTACATTATACAATCGCCG	0.413000														45			36		0	0	0.008740	0	0
MGAM	8972	broad.mit.edu	37	7	141721425	141721425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141721425G>A	uc003vwy.3	+	5	652	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	200	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTGCCCCACGAACACGTGCA	0.428000														19			20		0	0	0.010504	0	0
TOP3A	7156	broad.mit.edu	37	17	18205590	18205590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18205590G>A	uc002gsx.1	-	6	1031	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.H166Y|TOP3A_uc010cqa.1_Non-coding_Transcript	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	268					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTAATTCTGTGGAAGATTTCT	0.512000														22			16		0	0	0.008871	0	0
MICALCL	84953	broad.mit.edu	37	11	12316195	12316195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:12316195C>T	uc001mkg.1	+	2	1508	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	406					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AAAGACAAATCTTTTGAGAGT	0.473000														57			36		0	0	0.004289	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174815	150174815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:150174815G>A	uc003whj.3	+	4	2275	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	649						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.E649K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAATGTCCAGGAAATGTCCCA	0.413000														24			20		0	0	0.010504	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849211	14849211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:14849211C>T	uc001rcd.3	-	0	309	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	GUCY2C_uc009zhz.2_Missense_Mutation_p.V58M	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	58					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCCTCATTCACCGCATCTTCC	0.478000														11			12		0	0	0.013537	0	0
ALPPL2	251	broad.mit.edu	37	2	233272013	233272013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:233272013G>A	uc002vss.4	+	2	255	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	68					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTGTCTACGGTGACAGCTGC	0.627000														24			14		0	0	0.003163	0	0
EPHA1	2041	broad.mit.edu	37	7	143095042	143095042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:143095042G>A	uc003wcz.3	-	7	1673	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	529	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCATGATCAGGGGAGAAAGG	0.567000														20			17		0	0	0.004007	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547093	67547093	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:67547093G>A	uc003xwn.3	-	2	3571	c.3312C>T	c.(3310-3312)gcC>gcT	p.A1104A		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1104					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTTTCGCTGGGCCTCAACCA	0.448000														37			29		0	0	0.010818	0	0
ADCY1	107	broad.mit.edu	37	7	45717849	45717849	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:45717849C>T	uc003tne.4	+	9	1903	c.1885C>T	c.(1885-1887)Cta>Tta	p.L629L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	629					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTCTACCTTCTAATATTCCC	0.502000														61			38		0	0	0.007835	0	0
DMBT1	1755	broad.mit.edu	37	10	124358464	124358464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:124358464G>A	uc001lgk.1	+	25	3237	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1034E|DMBT1_uc001lgm.1_Missense_Mutation_p.G545E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1044E|DMBT1_uc021qag.1_Missense_Mutation_p.G1034E|DMBT1_uc021qah.1_Missense_Mutation_p.G545E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1044E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G5E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1044	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCGG	0.612000														113			86		0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527656	70527656	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:70527656C>T	uc001xly.3	-	3	2539	c.1785_splice	c.e3-1	p.V595_splice	SLC8A3_uc001xlv.3_Splice_Site|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Splice_Site_p.V595_splice|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Splice_Site_p.V595_splice|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	595	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTATGGTTTTCCTGTAGGGAC	0.458000														14			8		0	0	0.004482	0	0
FABP1	2168	broad.mit.edu	37	2	88425737	88425737	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:88425737C>T	uc002sst.2	-	1	312	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	66					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACATTCCTCCCCCACCGTGA	0.532000														90			67		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103389894	103389894	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:103389894A>C	uc022ajr.1	-	5	795	c.635T>G	c.(634-636)cTg>cGg	p.L212R	RELN_uc022ajq.1_Missense_Mutation_p.L212R|RELN_uc010liz.3_Missense_Mutation_p.L212R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	212					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTAATTGCAGTTGGTGGTA	0.353000														46			27		0	0	0.009535	0	0
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:52066985G>A	uc001jje.3	-	10	2113	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_uc010qhk.2_Nonsense_Mutation_p.R218*	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	393					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.R387*(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493000														16			15		0	0	0.003163	0	0
SEPT9	10801	broad.mit.edu	37	17	75398634	75398634	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:75398634C>T	uc002jts.4	+	2	696	c.570C>T	c.(568-570)atC>atT	p.I190I	SEPT9_uc010wtk.2_Silent_p.I171I|SEPT9_uc002jtt.4_Silent_p.I26I|SEPT9_uc002jtu.4_Silent_p.I172I|SEPT9_uc002jtv.3_Silent_p.I183I|SEPT9_uc002jtw.3_Silent_p.I26I|SEPT9_uc002jtx.1_Silent_p.I26I|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	190					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGGTGGAGATCCAGATGCCCA	0.692000														4			7		0	0	0.001984	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425417	74425417	+	Silent	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:74425417T>C	uc010vmt.1	+	5	589	c.588T>C	c.(586-588)acT>acC	p.T196T				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	257										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						ATTCTATAACTGATAACTCCC	0.502000														33			13		0	0	0.002450	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120596	41120596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:41120596C>T	uc001zmz.3	-	0	312	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PPP1R14D_uc001zmy.3_Missense_Mutation_p.E82K	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	82					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGAAGAGCTCCTGAACTTGA	0.627000														53			40		0	0	0.006999	0	0
EPS8L3	79574	broad.mit.edu	37	1	110304162	110304162	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:110304162G>A	uc001dyr.2	-	2	276	c.51C>T	c.(49-51)tcC>tcT	p.S17S	EPS8L3_uc001dys.2_Silent_p.S17S|EPS8L3_uc001dyq.2_Silent_p.S17S|EPS8L3_uc009wfm.2_5'UTR|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Silent_p.S17S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	17						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGGTTCTGGGAGTACTCCT	0.612000														20			13		0	0	0.002450	0	0
PPM1J	333926	broad.mit.edu	37	1	113253973	113253973	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:113253973A>T	uc001ect.1	-	5	988	c.961T>A	c.(961-963)Ttc>Atc	p.F321I	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.F115I	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	321	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGGTGAATTCACTGCCT	0.572000														6			5		0	0	0.001168	0	0
MYH6	4624	broad.mit.edu	37	14	23851771	23851771	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23851771C>T	uc001wjv.3	-	38	5733	c.5662_splice	c.e38-1	p.E1888_splice		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1888					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTTGCTCCTCCTGTGGTGGG	0.597000														34			23		0	0	0.004656	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023421	193023422	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:193023421_193023422CT>TA	uc011bsq.2	-	22	2604_2605	c.2604_2605AG>TA	c.(2602-2607)tcagag>tcTAag	p.E869K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	869					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCCTGCTCTGATAATGAAA	0.455000														52			43		0	0	0.004672	0	0
CES1	1066	broad.mit.edu	37	16	55844441	55844441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:55844441G>A	uc002eim.3	-	10	1411	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	CES1_uc002eil.3_Missense_Mutation_p.R436W|CES1_uc002ein.3_Missense_Mutation_p.R434W	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	435					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGGTTCCGGGCCACAATC	0.512000														28			28		0	0	0.006320	0	0
USP32	84669	broad.mit.edu	37	17	58348781	58348781	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:58348781C>T	uc002iyo.1	-	5	919	c.633G>A	c.(631-633)cgG>cgA	p.R211R	USP32_uc010wov.1_Silent_p.R211R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	211					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R211R(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCGTCCAGTCCGGGATTGAG	0.388000														19			19		0	0	0.006122	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94827677	94827677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:94827677G>A	uc003unp.3	+	5	2053	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E591K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E591K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E591K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E591K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	591	PDZ.					cell junction|synapse|synaptosome	actin binding	p.E591*(3)|p.R590W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTGGGCGGGAAAAACCAGG	0.448000										HNSCC(28;0.073)				34			32		0	0	0.009535	0	0
VPS39	23339	broad.mit.edu	37	15	42479529	42479529	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:42479529G>A	uc001zpd.3	-	7	658	c.507C>T	c.(505-507)tcC>tcT	p.S169S	VPS39_uc001zpc.3_Silent_p.S158S	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	169	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACCACGCCATGGACTTGGGCA	0.338000														25			13		0	0	0.004007	0	0
PDE1A	5136	broad.mit.edu	37	2	183387031	183387031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:183387031C>T	uc002uos.3	-	1	157	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.E25K|PDE1A_uc010zfq.1_Missense_Mutation_p.E25K|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	25	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACATTTTTTCAGTCTGTTCT	0.393000														20			10		0	0	0.008291	0	0
USE1	55850	broad.mit.edu	37	19	17327013	17327013	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:17327013C>T	uc002nfo.2	+	3	327	c.267C>T	c.(265-267)ttC>ttT	p.F89F	USE1_uc002nfn.2_Silent_p.F89F|USE1_uc010eal.1_Silent_p.F89F	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	89					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CCAACCAGTTCCTGGCCCCTG	0.612000														26			15		0	0	0.006122	0	0
PRKCB	5579	broad.mit.edu	37	16	24166007	24166007	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:24166007C>T	uc002dmd.3	+	9	1265	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V	PRKCB_uc002dme.3_Silent_p.V356V	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	356	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTCCCAGGTCATGCTTTCAG	0.488000														16			10		0	0	0.010729	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458690	120458690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:120458690G>A	uc001eik.3	-	33	6952	c.6655C>T	c.(6655-6657)Ccc>Tcc	p.P2219S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2219					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTGAGGGAAGCACAGTG	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					287			178		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	8982215	8982215	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:8982215G>A	uc002mkp.3	-	69	42264	c.42060C>T	c.(42058-42060)acC>acT	p.T14020T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.T837T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14045	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCCATGGGTCTGCTGGC	0.632000														21			22		0	0	0.003330	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391864	139391864	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:139391864G>A	uc004chz.3	-	33	6327	c.6327C>T	c.(6325-6327)atC>atT	p.I2109I		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2109					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGCCTCACGATGTCGTGAT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				32			21		0	0	0.014323	0	0
LOXL2	4017	broad.mit.edu	37	8	23225612	23225612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:23225612C>T	uc003xdh.1	-	1	592	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	85	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AAGTCGTCATCGCACACGGTG	0.642000														29			18		0	0	0.004990	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964423	32964423	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:32964423G>A	uc002hif.3	+	9	2455	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	709						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAAACGCAAGAGTGTGCTCG	0.657000														36			22		0	0	0.014323	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302735	145302735	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:145302735C>T	uc021oul.1	+	7	1208	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.S391S|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.S120S|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	391										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGATGCCTCCCGCTCATTGA	0.557000														169			5		0	0	0.008291	0	0
FAM83B	222584	broad.mit.edu	37	6	54735174	54735174	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:54735174C>T	uc003pck.3	+	1	246	c.130C>T	c.(130-132)Caa>Taa	p.Q44*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	44										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAAGCATACCAAGAATTTCT	0.378000														75			23		0	0	0.014323	0	0
CCDC19	25790	broad.mit.edu	37	1	159863049	159863049	+	Missense_Mutation	SNP	T	A	A	rs144965039		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:159863049T>A	uc001fui.3	-	1	68	c.50A>T	c.(49-51)aAc>aTc	p.N17I	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.N17I	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	17						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTTGACCTGTTGGAAGCGGC	0.522000														62			146		0	0	0.014410	0	0
OPRL1	4987	broad.mit.edu	37	20	62729885	62729885	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62729885C>T	uc002yic.3	+	4	1265	c.846C>T	c.(844-846)ttC>ttT	p.F282F	OPRL1_uc002yid.3_Silent_p.F282F|OPRL1_uc021wgs.1_Silent_p.F282F|OPRL1_uc002yif.4_Silent_p.F277F	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	282					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCAGGTCTTCGTGCTGGCCC	0.667000														16			12		0	0	0.010729	0	0
MS4A5	64232	broad.mit.edu	37	11	60198338	60198338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60198338C>T	uc001npo.3	+	1	309	c.223C>T	c.(223-225)Cca>Tca	p.P75S		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 5 (MS4A5), mRNA.	75						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CTTGTTAAAACCATATCCAAG	0.378000														40			35		0	0	0.013726	0	0
CETN1	1068	broad.mit.edu	37	18	580754	580754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:580754G>A	uc002kko.1	+	0	386	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	116	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTTTGATGACGATGAGACCGG	0.527000														25			19		0	0	0.006122	0	0
MYO3B	140469	broad.mit.edu	37	2	171258164	171258164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:171258164C>T	uc002ufy.3	+	17	2235	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C	MYO3B_uc002ufv.3_Missense_Mutation_p.R685C|MYO3B_uc010fqb.1_Missense_Mutation_p.R698C|MYO3B_uc002ufz.3_Missense_Mutation_p.R698C|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	698	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATTGTGAATCGCATTAATAC	0.547000														18			19		0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10314205	10314205	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10314205G>A	uc002gmm.2	-	14	1571	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	492	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGGTGGTTGAAAAACTGTT	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					39			34		0	0	0.004289	0	0
OR4K1	79544	broad.mit.edu	37	14	20404458	20404458	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:20404458C>T	uc001vwj.2	+	0	692	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAGCTGTTTCCTGGCTTTAA	0.438000														45			13		0	0	0.001855	0	0
LRRC10	376132	broad.mit.edu	37	12	70003892	70003892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:70003892C>T	uc001svc.3	-	0	1051	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	243						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCTGGCGTCTCCTCTGCCCAT	0.582000														25			15		0	0	0.003163	0	0
PDE1C	5137	broad.mit.edu	37	7	31793104	31793104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:31793104G>A	uc003tcm.2	-	17	2485	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	PDE1C_uc003tcn.1_Missense_Mutation_p.S675L|PDE1C_uc003tco.2_Missense_Mutation_p.S735L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	675					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTTTGAGACTGAAGGTGCATA	0.453000														47			42		0	0	0.007835	0	0
OR6K2	81448	broad.mit.edu	37	1	158670321	158670321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:158670321C>T	uc001fsu.1	-	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GACCAGGTTTCCAACAACAAT	0.428000														51			19		0	0	0.007413	0	0
C17orf53	78995	broad.mit.edu	37	17	42225989	42225989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42225989C>T	uc002ifi.2	+	2	1055	c.818C>T	c.(817-819)tCc>tTc	p.S273F	C17orf53_uc010czq.2_Missense_Mutation_p.S273F|C17orf53_uc002ifj.2_Missense_Mutation_p.S273F|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	273								p.R272H(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCGCAACGCTCCCCTGTTCAA	0.557000														42			38		0	0	0.005524	0	0
COG7	91949	broad.mit.edu	37	16	23417548	23417548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:23417548G>A	uc002dlo.3	-	11	1708	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	504					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGGGCTGCAGGAATCAGATAG	0.458000														28			30		0	0	0.010818	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642869	129642869	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:129642869C>T	uc022bnn.1	+	0	1179	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	ZBTB34_uc004bqm.4_Silent_p.L393L	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ACATGCGACTCCATATGGGAA	0.493000														19			10		0	0	0.006214	0	0
KIAA0922	23240	broad.mit.edu	37	4	154514996	154514996	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:154514996C>T	uc010ipp.3	+	18	2020	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	KIAA0922_uc003inm.4_Silent_p.F655F|KIAA0922_uc010ipq.3_Silent_p.F424F	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	655						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGGTGAATTCCAGCTCACCG	0.398000														16			16		0	0	0.010504	0	0
SLC35A2	7355	broad.mit.edu	37	X	48763720	48763720	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:48763720C>T	uc011mmm.1	-	3	781	c.459G>A	c.(457-459)caG>caA	p.Q153Q	SLC35A2_uc004dlo.1_Silent_p.Q125Q|SLC35A2_uc011mml.1_Silent_p.Q138Q|SLC35A2_uc004dlp.1_Silent_p.Q125Q|SLC35A2_uc011mmn.1_Silent_p.Q64Q|SLC35A2_uc004dlq.3_Silent_p.Q125Q|SLC35A2_uc004dlr.1_Silent_p.Q53Q|SLC35A2_uc011mmo.1_Silent_p.Q138Q	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	125					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GGAGGTTATTCTGCAAGGTGT	0.552000														0			14		0	0	0.001855	0	0
OR52B4	143496	broad.mit.edu	37	11	4388697	4388697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:4388697G>A	uc010qye.2	-	0	920	c.829C>T	c.(829-831)Ccg>Tcg	p.P277S		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P277A(2)|p.P277L(1)|p.P277P(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAGCCAACGGGATGTGGATA	0.463000														33			19		0	0	0.012319	0	0
MYH2	4620	broad.mit.edu	37	17	10451235	10451235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10451235C>T	uc010coi.3	-	2	131	c.3G>A	c.(1-3)atG>atA	p.M1I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M1I|MYH2_uc010coj.3_Missense_Mutation_p.M1I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCTGAACTCATGGCTGCTG	0.433000														13			15		0	0	0.003163	0	0
DBX2	440097	broad.mit.edu	37	12	45429837	45429837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:45429837G>A	uc001rok.1	-	1	636	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gcgccgacaggacccaccgca	0.478000														17			18		0	0	0.012319	0	0
KDR	3791	broad.mit.edu	37	4	55973926	55973926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:55973926C>T	uc003has.3	-	9	1692	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	KDR_uc003hat.1_Missense_Mutation_p.E464K|KDR_uc011bzx.2_Missense_Mutation_p.E464K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	464	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCGCACTCTTCCTCCAACTGC	0.517000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				39			25		0	0	0.007291	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914620	37914620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:37914620G>A	uc003xks.3	+	1	239	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1), mRNA.	56					G1/S transition of mitotic cell cycle|TOR signaling cascade|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				ATCTATGACCGGAAATTCCTG	0.552000														25			15		0	0	0.004990	0	0
KRT10	3858	broad.mit.edu	37	17	38975078	38975078	+	Missense_Mutation	SNP	G	A	A	rs112018671		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:38975078G>A	uc002hvi.3	-	6	1735	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	TMEM99_uc021txc.1_5'Flank|TMEM99_uc002hvj.1_5'Flank|TMEM99_uc021txd.1_5'Flank	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	570	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GGACCCGGAAGAGGAGGACTT	0.632000														19			9		0	0	0.008291	0	0
SSPO	23145	broad.mit.edu	37	7	149523807	149523807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:149523807C>T	uc010lpk.3	+	101	14593	c.14593C>T	c.(14593-14595)Ccc>Tcc	p.P4865S	SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4873					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGCCTGCCCCTGCACCCA	0.682000														9			5		0	0	0.000602	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44028838	44028838	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:44028838C>T	uc002rtl.3	+	9	895	c.795C>T	c.(793-795)ttC>ttT	p.F265F	DYNC2LI1_uc002rtk.3_Silent_p.F264F|DYNC2LI1_uc010ynz.2_Silent_p.F138F|DYNC2LI1_uc021vgq.1_Silent_p.F138F	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	264						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATTCTTTCGGTCAAATAG	0.338000														161			123		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34090146	34090146	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34090146G>A	uc001bxm.1	-	34	5775	c.5598C>T	c.(5596-5598)atC>atT	p.I1866I	CSMD2_uc001bxn.1_Silent_p.I1826I|CSMD2_uc001bxo.1_Silent_p.I739I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1826	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGGACCACGATCTTCCACA	0.647000														47			25		0	0	0.003330	0	0
NPTX2	4885	broad.mit.edu	37	7	98254433	98254433	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:98254433G>A	uc003upl.2	+	2	1020	c.843G>A	c.(841-843)ctG>ctA	p.L281L		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	281	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGATCGTGCTGATCGAGTGGG	0.642000														28			30		0	0	0.009535	0	0
PEX6	5190	broad.mit.edu	37	6	42942632	42942632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:42942632G>A	uc003otf.3	-	1	1120	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGAAAGTGCCGGTAAAGAACA	0.463000														71			87		0	0	0.014410	0	0
ERG	2078	broad.mit.edu	37	21	39947671	39947671	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:39947671G>A	uc010gnw.3	-	3	249	c.-46_splice	c.e3-1		ERG_uc021wjd.1_Splice_Site|ERG_uc010gnv.3_Splice_Site|ERG_uc010gnx.3_Splice_Site|ERG_uc011ael.2_Splice_Site|ERG_uc002yxb.3_Splice_Site|ERG_uc002yxc.4_Splice_Site|ERG_uc010gnz.3_Splice_Site	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.						cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAACCTGACGGCTAGAAGACA	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									26			17		0	0	0.006122	0	0
ODZ4	26011	broad.mit.edu	37	11	78433784	78433784	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:78433784G>A	uc001ozl.4	-	23	4192	c.3729C>T	c.(3727-3729)ctC>ctT	p.L1243L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1243					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CACCCACATAGAGGCTCCCGT	0.547000														31			38		0	0	0.004878	0	0
NOS1	4842	broad.mit.edu	37	12	117660615	117660615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:117660615C>T	uc001twn.2	-	26	4693	c.3982G>A	c.(3982-3984)Gat>Aat	p.D1328N	NOS1_uc021ren.1_Missense_Mutation_p.D958N|NOS1_uc021reo.1_Missense_Mutation_p.D958N|NOS1_uc001twm.2_Missense_Mutation_p.D1294N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1294					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TAGATATGATCTATCTTGGAT	0.557000														57			46		0	0	0.014410	0	0
ITGB5	3693	broad.mit.edu	37	3	124536491	124536491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:124536491G>A	uc003eho.3	-	7	1402	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	369	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ATAATCAGTTGAATAATATTT	0.438000														18			10		0	0	0.008291	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:65476088G>A	uc011moz.2	+	16	3111	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_uc004dwn.3_Missense_Mutation_p.E941K|HEPH_uc004dwo.3_Missense_Mutation_p.E671K|HEPH_uc010nkr.3_Missense_Mutation_p.E749K|HEPH_uc011mpa.2_Missense_Mutation_p.E941K|HEPH_uc010nks.3_Missense_Mutation_p.E230K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000														0			13		0	0	0.001855	0	0
ANKRD26	22852	broad.mit.edu	37	10	27356094	27356094	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:27356094T>C	uc009xku.1	-	9	1371	c.1199A>G	c.(1198-1200)aAt>aGt	p.N400S	ANKRD26_uc001itg.2_Missense_Mutation_p.N119S|ANKRD26_uc001ith.2_Missense_Mutation_p.N400S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	400						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACCACTTCTATTATTTTTGTG	0.348000														21			20		0	0	0.010504	0	0
OR5M1	390168	broad.mit.edu	37	11	56380655	56380655	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:56380655C>T	uc001nja.1	-	0	324	c.324G>A	c.(322-324)gtG>gtA	p.V108V	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCAGTGATCACCAGGGCGA	0.458000														32			25		0	0	0.005443	0	0
C12orf54	121273	broad.mit.edu	37	12	48888715	48888715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:48888715G>A	uc001rrr.3	+	7	508	c.377G>A	c.(376-378)gGa>gAa	p.G126E	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	126										endometrium(1)|large_intestine(4)	5						TACTACCCTGGACCCTAACTC	0.517000														20			25		0	0	0.007291	0	0
SLC9B2	133308	broad.mit.edu	37	4	103971423	103971423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:103971423G>A	uc003hwx.4	-	4	1431	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SLC9B2_uc010iln.2_Missense_Mutation_p.R39C|SLC9B2_uc003hwy.3_Missense_Mutation_p.R187C|SLC9B2_uc011cew.2_Missense_Mutation_p.R130C|SLC9B2_uc011cex.1_Missense_Mutation_p.R130C|SLC9B2_uc011cey.2_Missense_Mutation_p.R130C	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	187					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGGCCAGCACGAACCAGAATG	0.388000														14			14		0	0	0.004007	0	0
VENTX	27287	broad.mit.edu	37	10	135053586	135053586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:135053586C>T	uc010quy.1	+	2	564	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	185					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCTGCTGTGCCCTTGGGCACC	0.667000														14			14		0	0	0.004990	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38951638C>T	uc021wvy.1	-	7	1219	c.1020G>A	c.(1018-1020)acG>acA	p.T340T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTCAAAATTCGTATAATTAT	0.368000														17			13		0	0	0.013537	0	0
ANO4	121601	broad.mit.edu	37	12	101505387	101505387	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:101505387C>T	uc010svm.1	+	23	2921	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	ANO4_uc001thw.2_Silent_p.I748I|ANO4_uc001thx.2_Silent_p.I783I|ANO4_uc001thy.2_Silent_p.I303I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	783						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTCTGTTATCACAAATGCAT	0.388000										HNSCC(74;0.22)				25			16		0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61868637	61868637	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:61868637A>C	uc001jky.3	-	26	3462	c.3124T>G	c.(3124-3126)Tta>Gta	p.L1042V	ANK3_uc001jkw.3_Missense_Mutation_p.L176V|ANK3_uc009xpa.3_Missense_Mutation_p.L176V|ANK3_uc001jkx.3_Missense_Mutation_p.L220V|ANK3_uc010qih.2_Missense_Mutation_p.L1043V|ANK3_uc001jkz.4_Missense_Mutation_p.L1036V|ANK3_uc001jla.1_Missense_Mutation_p.L108V|ANK3_uc001jlb.1_Missense_Mutation_p.L560V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1042	ZU5.			MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTACTGGCTAATCCCTCTCCT	0.498000														33			42		0	0	0.014410	0	0
ADH1A	124	broad.mit.edu	37	4	100205629	100205629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:100205629G>A	uc003hur.2	-	4	608	c.494C>T	c.(493-495)tCg>tTg	p.S165L	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.S165S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCTAGAGGCGAGGCTGCATC	0.478000														23			24		0	0	0.003330	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833879	61833879	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:61833879C>T	uc002yeh.3	-	3	1707	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	YTHDF1_uc011aaq.2_Silent_p.K421K	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	471	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CAAACTTCCCCTTCCACTTGT	0.532000														38			21		0	0	0.008871	0	0
VWF	7450	broad.mit.edu	37	12	6161802	6161802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:6161802C>T	uc001qnn.1	-	15	2343	c.2093G>A	c.(2092-2094)aGg>aAg	p.R698K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	698	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGTCCCCCCTCTCATCCAT	0.582000														37			28		0	0	0.005443	0	0
CACNG6	59285	broad.mit.edu	37	19	54501563	54501563	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:54501563G>A	uc002qct.3	+	1	992	c.402G>A	c.(400-402)aaG>aaA	p.K134K	CACNG6_uc002qcu.3_Silent_p.K134K|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	134						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAACCACAAAGAAAGGTGAGA	0.498000														12			19		0	0	0.014323	0	0
SV2C	22987	broad.mit.edu	37	5	75427872	75427872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:75427872G>A	uc003kei.1	+	1	431	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	99					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCCCAGTATGAACCAAGCGA	0.557000														12			9		0	0	0.004482	0	0
ZMYM5	9205	broad.mit.edu	37	13	20398733	20398733	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:20398733T>C	uc010tcn.1	-	7	2159	c.1894A>G	c.(1894-1896)Agt>Ggt	p.S632G	ZMYM5_uc001umm.1_Missense_Mutation_p.S456G	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	632						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tacttaacactattgttgacg	0.299000														8			4		0	0	0.009096	0	0
KRT5	3852	broad.mit.edu	37	12	52913771	52913771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:52913771C>T	uc001san.3	-	0	473	c.310G>A	c.(310-312)Gga>Aga	p.G104R	KRT5_uc009zmh.3_Missense_Mutation_p.G104R	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	104	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		aaaccaaatccactaccggca	0.617000														18			18		0	0	0.004990	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355126	33355126	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:33355126G>A	uc002ntv.4	-	3	471	c.354C>T	c.(352-354)atC>atT	p.I118I	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I118I|SLC7A9_uc021usa.1_Silent_p.I118I|SLC7A9_uc002ntw.4_5'UTR	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	118					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCTTAATGACGATCAGGCTGG	0.572000														16			14		0	0	0.004007	0	0
MSH3	4437	broad.mit.edu	37	5	80074565	80074565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:80074565C>T	uc003kgz.3	+	16	2598	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	782					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCTTTCACTCTCCTTTTATT	0.403000								Mismatch excision repair (MMR)						33			23		0	0	0.003954	0	0
OR6C76	390326	broad.mit.edu	37	12	55820418	55820418	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55820418G>A	uc010spm.2	+	0	381	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAAGCCTCTGCATTATACAA	0.443000														49			32		0	0	0.012213	0	0
WNT16	51384	broad.mit.edu	37	7	120979033	120979033	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:120979033G>A	uc003vjw.3	+	3	989	c.732G>A	c.(730-732)aaG>aaA	p.K244K	WNT16_uc003vjv.3_Silent_p.K234K|WNT16_uc010lkl.3_Silent_p.K28K	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	244					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTTTTGAAAAGATTGGCCATT	0.428000														35			12		0	0	0.001855	0	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:20043949C>T	uc002dgu.1	-	1	332	c.170G>A	c.(169-171)aGa>aAa	p.R57K	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	57						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CTTCTGTCTTCTTGCCACCAG	0.463000														25			19		0	0	0.014323	0	0
VPS13B	157680	broad.mit.edu	37	8	100861088	100861089	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:100861088_100861089GG>AA	uc003yiv.3	+	54	10213_10214	c.10102_10103GG>AA	c.(10102-10104)gga>AAa	p.G3368K	VPS13B_uc003yiw.3_Missense_Mutation_p.G3343K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3368					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGCCCCAGAAGGAAAAGCAGGA	0.396000														22			30		0	0	0.004672	0	0
ISM1	140862	broad.mit.edu	37	20	13260312	13260312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:13260312C>T	uc010gce.1	+	2	416	c.410C>T	c.(409-411)tCt>tTt	p.S137F	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	137						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTCCTGACTCTGAAGCAGAT	0.577000														10			10		0	0	0.006214	0	0
CNDP2	55748	broad.mit.edu	37	18	72173110	72173110	+	Silent	SNP	C	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:72173110C>A	uc002llm.2	+	3	490	c.231C>A	c.(229-231)ctC>ctA	p.L77L	CNDP2_uc002lln.2_Intron|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	77						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	p.P76Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AGATCCCGCTCCCTCCTATTC	0.552000														18			15		2.32078e-09	2.56191e-09	0.003163	1	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42354506G>A	uc010xwe.2	+	6	965	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_uc002orr.1_Silent_p.R171R|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000														26			30		0	0	0.006320	0	0
CEP192	55125	broad.mit.edu	37	18	13096208	13096208	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:13096208C>T	uc010xac.2	+	35	6539	c.6459C>T	c.(6457-6459)ttC>ttT	p.F2153F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.F1678F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Silent_p.F575F|CEP192_uc002krx.3_Silent_p.F157F|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1748										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGACGTTTCCAGATTGTGA	0.418000														24			20		0	0	0.008871	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:79689912C>T	uc001sys.3	+	7	1209	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(2)|p.P180L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000														23			27		0	0	0.012213	0	0
NEK8	284086	broad.mit.edu	37	17	27061949	27061949	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:27061949A>C	uc002hcp.3	+	2	413	c.413A>C	c.(412-414)aAa>aCa	p.K138T		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	138	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGCTTGACAAACACCGCATG	0.552000														53			36		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179634897	179634897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179634897G>A	uc021vsy.1	-	35	8756	c.8531C>T	c.(8530-8532)tCa>tTa	p.S2844L	TTN_uc021vsz.1_Missense_Mutation_p.S2798L|TTN_uc021vta.1_Missense_Mutation_p.S2798L|TTN_uc021vtb.1_Missense_Mutation_p.S2798L|TTN_uc002unb.2_Missense_Mutation_p.S2844L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2844							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTTTCTGAGACCAGTCT	0.458000														58			49		0	0	0.014410	0	0
FOXO4	4303	broad.mit.edu	37	X	70321291	70321291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:70321291C>T	uc004dys.2	+	1	1591	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	FOXO4_uc004dyt.2_Missense_Mutation_p.S349F	NM_005938	NP_005929	P98177	FOXO4_HUMAN	Homo sapiens forkhead box O4 (FOXO4), transcript variant 1, mRNA.	404					G1 phase of mitotic cell cycle|cell cycle arrest|cell differentiation|embryo development|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGCTTCCTTCCTCCAGTAAG	0.617000														1			14		0	0	0.002450	0	0
DSC1	1823	broad.mit.edu	37	18	28722027	28722027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:28722027C>T	uc002kwn.3	-	8	1457	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DSC1_uc002kwm.3_Missense_Mutation_p.E399K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	399	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCCATTTTCATTTCCTTGT	0.353000														36			19		0	0	0.008871	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373036	373036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:373036C>T	uc001lpb.3	+	4	464	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	152						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCGCACCACCGTGAAGAAG	0.647000														31			17		0	0	0.006122	0	0
USP6	9098	broad.mit.edu	37	17	5058874	5058874	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:5058874A>C	uc002gau.1	+	30	5031	c.2801A>C	c.(2800-2802)cAg>cCg	p.Q934P	USP6_uc002gav.1_Missense_Mutation_p.Q934P|USP6_uc010ckz.1_Missense_Mutation_p.Q617P	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	934					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCACCTCAGGAAGCTAGT	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									27			27		0	0	0.006320	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915842	25915842	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:25915842G>A	uc011dkb.2	-	8	1179	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SLC17A2_uc011dkc.2_Intron|SLC17A2_uc003nfl.3_Intron			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	366					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAAGGGCAGGGCCACAGCA	0.478000														29			21		0	0	0.008871	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221708	140221708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140221708G>A	uc003lhs.2	+	0	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D268N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	283	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGCTTCTGATCCGGATGA	0.388000														19			14		0	0	0.004007	0	0
MINK1	50488	broad.mit.edu	37	17	4798781	4798781	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:4798781C>T	uc010vsl.2	+	25	3466	c.3222C>T	c.(3220-3222)acC>acT	p.T1074T	MINK1_uc010vsk.2_Silent_p.T1045T|MINK1_uc010vsm.2_Silent_p.T1054T|MINK1_uc010vsn.2_Silent_p.T1037T|MINK1_uc010vso.2_Silent_p.T982T|MINK1_uc010vsp.2_Silent_p.T535T	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	1074	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGCTCATCACCATCTCAGGTA	0.617000														15			13		0	0	0.002450	0	0
DNAH11	8701	broad.mit.edu	37	7	21778324	21778324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:21778324C>T	uc003svc.3	+	47	7703	c.7672C>T	c.(7672-7674)Ctt>Ttt	p.L2558F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2558	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAGAAATTCTTGAGAAACC	0.333000									Kartagener syndrome					0			2		0	0	0.004672	0	0
OR6N1	128372	broad.mit.edu	37	1	158736335	158736335	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:158736335G>T	uc010piq.2	-	0	138	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGACCACCAGGAATATCAGCA	0.507000														33			80		1.32764e-51	1.47902e-51	0.014410	1	0
PPFIA1	8500	broad.mit.edu	37	11	70183477	70183477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:70183477C>T	uc001opo.3	+	11	1650	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	PPFIA1_uc001opn.2_Missense_Mutation_p.L479F|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	479					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCAGAACTCTCTTTTAAGAGA	0.333000														6			7		0	0	0.004482	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702777	60702777	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60702777G>A	uc001nqi.3	+	9	2086	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	TMEM132A_uc001nqj.3_Silent_p.T630T	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	630	Binds to HSPA5/GRP78 (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCTGTGACGGACGACAAGG	0.647000														10			8		0	0	0.006214	0	0
NR5A2	2494	broad.mit.edu	37	1	200090082	200090082	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:200090082A>C	uc001gvb.3	+	7	1584	c.1378_splice	c.e7+1	p.D460_splice	NR5A2_uc001gvc.3_Splice_Site_p.D414_splice|NR5A2_uc009wzh.3_Splice_Site_p.D420_splice|NR5A2_uc010pph.2_Splice_Site_p.D388_splice	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	460					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTTTAGTTTAGGTAAGAAAT	0.383000														25			67		0	0	0.014410	0	0
ARSB	411	broad.mit.edu	37	5	78251203	78251203	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:78251203G>A	uc003kfq.3	-	3	2099	c.813C>T	c.(811-813)tcC>tcT	p.S271S	ARSB_uc003kfr.4_Silent_p.S271S	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	271					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CATCCATAAGGGACACCATTC	0.453000														26			21		0	0	0.008871	0	0
IL23R	149233	broad.mit.edu	37	1	67635190	67635190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:67635190G>A	uc001ddo.3	+	2	321	c.236G>A	c.(235-237)aGg>aAg	p.R79K	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Missense_Mutation_p.R36K|IL23R_uc010opl.2_5'UTR|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_5'UTR|IL23R_uc001ddr.3_Non-coding_Transcript	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	79					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAAATCACAAGGATTAATAAA	0.343000														42			20		0	0	0.007413	0	0
GRM8	2918	broad.mit.edu	37	7	126086284	126086284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:126086284G>A	uc003vlr.2	-	8	2884	c.2573C>T	c.(2572-2574)gCt>gTt	p.A858V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.A858V|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	858					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTCACCACAGCCTTGAAGCT	0.428000										HNSCC(24;0.065)				38			42		0	0	0.011902	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152222	11152222	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:11152222C>T	uc010dxp.3	+	30	4770	c.4410C>T	c.(4408-4410)atC>atT	p.I1470I	SMARCA4_uc010dxo.3_Silent_p.I1502I|SMARCA4_uc002mqf.4_Silent_p.I1470I|SMARCA4_uc010dxq.3_Silent_p.I1437I|SMARCA4_uc010dxr.3_Silent_p.I1437I|SMARCA4_uc002mqj.4_Silent_p.I1440I|SMARCA4_uc010dxs.3_Silent_p.I1440I|SMARCA4_uc002mqh.4_Silent_p.I560I	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1470					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATGCCGTGATCAAGTACAAGG	0.612000			"""F, N, Mis"""		NSCLC									16			6		0	0	0.001984	0	0
RPE65	6121	broad.mit.edu	37	1	68905294	68905294	+	Silent	SNP	G	A	A	rs114379164	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:68905294G>A	uc001dei.1	-	6	729	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	225					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTGTACAACGATCTCTGACT	0.363000														35			13		0	0	0.003163	0	0
WIPI2	26100	broad.mit.edu	37	7	5269352	5269352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:5269352C>T	uc003snv.3	+	11	1451	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	WIPI2_uc003snw.3_Intron|WIPI2_uc003snx.3_Missense_Mutation_p.S394L|WIPI2_uc003sny.3_Intron|WIPI2_uc010ksv.3_Missense_Mutation_p.S268L|WIPI2_uc003soa.3_Intron	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	412					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TACGTGCCTTCATCCCCAACG	0.572000														13			11		0	0	0.008291	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554572	140554572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140554572C>T	uc003lit.3	+	0	2330	c.2156C>T	c.(2155-2157)cCg>cTg	p.P719L	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	719					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCGGCCCCGGTGGGTCGC	0.662000														371			39		0	0	0.006230	0	0
PLCE1	51196	broad.mit.edu	37	10	96028785	96028785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96028785C>T	uc001kjk.3	+	16	5015	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S	PLCE1_uc010qnx.2_Missense_Mutation_p.P1445S|PLCE1_uc001kjm.3_Missense_Mutation_p.P1153S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1461	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCAAGATCCCCTTCAAGGT	0.383000														29			17		0	0	0.006122	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849613	25849613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:25849613G>A	uc003nfk.4	-	10	1461	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	SLC17A3_uc003nfi.4_Missense_Mutation_p.L373F	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	373					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGACTAAGAAGAAATCCACTG	0.398000														22			7		0	0	0.004482	0	0
TRPC4	7223	broad.mit.edu	37	13	38357311	38357311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:38357311C>T	uc010abx.3	-	1	395	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E54K|TRPC4_uc001uws.3_Missense_Mutation_p.E54K|TRPC4_uc010tey.2_Missense_Mutation_p.E54K|TRPC4_uc010abw.3_Missense_Mutation_p.E54K|TRPC4_uc010aby.3_Missense_Mutation_p.E54K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	54					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		atttcAGCTTCCTCTAGGGAT	0.388000														98			53		0	0	0.014410	0	0
TTC38	55020	broad.mit.edu	37	22	46671153	46671153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:46671153C>T	uc003bhi.3	+	4	450	c.374C>T	c.(373-375)cCg>cTg	p.P125L	TTC38_uc011aqx.2_Intron	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	125							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGGAACTTTCCGAAAGCCTGT	0.478000														18			14		0	0	0.001855	0	0
KRT8	3856	broad.mit.edu	37	12	53291251	53291252	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:53291251_53291252CC>TT	uc009zmk.1	-	8	1516_1517	c.1496_1497GG>AA	c.(1495-1497)ggg>gAA	p.G499E	KRT8_uc001sbd.2_Missense_Mutation_p.G471E|KRT8_uc009zml.1_Missense_Mutation_p.G471E|KRT8_uc009zmm.1_Missense_Mutation_p.G471E	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	471					cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCAGCTTCCCATCACGTGT	0.653000														38			19		0	0	0.004672	0	0
NINL	22981	broad.mit.edu	37	20	25459693	25459693	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:25459693G>A	uc002wux.1	-	15	2141	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	NINL_uc010gdn.1_Silent_p.V689V|NINL_uc010gdo.1_Silent_p.V472V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	689					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCCCCAGATGACCTCCTGAG	0.677000														36			23		0	0	0.003330	0	0
RNF19A	25897	broad.mit.edu	37	8	101282222	101282222	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:101282222A>T	uc003yjj.1	-	4	1220	c.903T>A	c.(901-903)tgT>tgA	p.C301*	RNF19A_uc003yjk.1_Nonsense_Mutation_p.C301*	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	301					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACATCGTGGACATGGCTTTA	0.363000														29			24		0	0	0.004656	0	0
PRSS55	203074	broad.mit.edu	37	8	10396229	10396229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:10396229G>A	uc003wta.3	+	4	1025	c.985G>A	c.(985-987)Gag>Aag	p.E329K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	329					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGGAGTCCCAGAGCCAGGCAG	0.512000														72			58		0	0	0.014410	0	0
OR5M11	219487	broad.mit.edu	37	11	56310253	56310253	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:56310253G>A	uc010rjl.2	-	0	481	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGGAAGGTCAGGATGGCCTGG	0.498000														15			9		0	0	0.004482	0	0
TNC	3371	broad.mit.edu	37	9	117848907	117848907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:117848907G>A	uc004bjj.4	-	2	1515	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	TNC_uc010mvf.3_Missense_Mutation_p.A368V|TNC_uc022bmj.1_Missense_Mutation_p.A368V	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	368	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCACACCGGCAAAGCCCTC	0.602000														52			4		0	0	0.000602	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586826	42586826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:42586826G>A	uc003xpi.1	+	4	504	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	126					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.F125F(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGGCCGCTTCGAAGGCTCCCT	0.507000														17			14		0	0	0.001855	0	0
COPA	1314	broad.mit.edu	37	1	160282958	160282958	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:160282958C>T	uc001fvv.4	-	10	1237	c.843_splice	c.e10-1	p.R281_splice	COPA_uc009wti.3_Splice_Site_p.R281_splice|COPA_uc009wtj.1_Splice_Site_p.R227_splice	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	281					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCCCAGTCCTAGAAAAGGT	0.428000														39			12		0	0	0.013537	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738130	62738130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62738130G>A	uc011abt.2	-	0	55	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	19						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637000														55			19		0	0	0.010504	0	0
ASXL3	80816	broad.mit.edu	37	18	31311969	31311969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:31311969C>T	uc010dmg.1	+	8	972	c.917C>T	c.(916-918)gCt>gTt	p.A306V	ASXL3_uc002kxq.2_Missense_Mutation_p.A13V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.A13G(1)|p.A306G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTACTTCAGCTCTAAATAAT	0.373000														35			24		0	0	0.008361	0	0
FSIP2	401024	broad.mit.edu	37	2	186673610	186673610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:186673610G>A	uc002upl.3	+	16	19844	c.19844G>A	c.(19843-19845)gGa>gAa	p.G6615E	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACATGTTGGAAAAAAACCA	0.308000														29			16		0	0	0.004990	0	0
HERC4	26091	broad.mit.edu	37	10	69684878	69684878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:69684878G>A	uc001jng.4	-	24	3240	c.2929C>T	c.(2929-2931)Cac>Tac	p.H977Y	HERC4_uc009xpq.3_Missense_Mutation_p.H509Y|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.H969Y|HERC4_uc009xpr.3_Missense_Mutation_p.H899Y|HERC4_uc001jni.4_Missense_Mutation_p.H713Y	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	977	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGTAATTCGTGAAATACTTCC	0.284000														14			15		0	0	0.007413	0	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:4471397C>T	uc001lyz.2	+	0	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000														57			39		0	0	0.006999	0	0
RHAG	6005	broad.mit.edu	37	6	49586937	49586937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:49586937C>T	uc003ozk.4	-	1	358	c.296G>A	c.(295-297)gGa>gAa	p.G99E	RHAG_uc010jzl.3_Missense_Mutation_p.G99E|RHAG_uc010jzm.3_Missense_Mutation_p.G99E	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	99					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTGCAGGATTCCCTGTACAAT	0.458000														67			22		0	0	0.002780	0	0
KRT26	353288	broad.mit.edu	37	17	38928361	38928361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:38928361G>A	uc002hvf.3	-	0	51	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	2	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AAGTCGAAAAGACATGGTGGC	0.547000														24			32		0	0	0.009535	0	0
DPYD	1806	broad.mit.edu	37	1	98165083	98165083	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:98165083G>A	uc001drv.3	-	5	641	c.504C>T	c.(502-504)atC>atT	p.I168I	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	168					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATCTGTGGGATACTCATTG	0.383000														63			37		0	0	0.008740	0	0
AP5B1	91056	broad.mit.edu	37	11	65546207	65546207	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:65546207G>T	uc001ofo.4	-	0	1616	c.1586C>A	c.(1585-1587)gCa>gAa	p.A529E		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	529							protein binding			lung(1)	1						CCTCACCCCTGCCCGCAGCAG	0.682000														10			6		0.00116845	0.00128484	0.001168	1	0
NCAPH2	29781	broad.mit.edu	37	22	50961498	50961498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:50961498G>A	uc003blx.4	+	18	1705	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	NCAPH2_uc003blv.3_Missense_Mutation_p.R527Q|NCAPH2_uc003blr.4_Missense_Mutation_p.R527Q	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	527					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGTCTCACGGTTCCCCCAG	0.642000														6			10		0	0	0.008291	0	0
GRM1	2911	broad.mit.edu	37	6	146755552	146755552	+	Missense_Mutation	SNP	C	T	T	rs150389935	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:146755552C>T	uc010khw.1	+	8	3675	c.3205C>T	c.(3205-3207)Ccg>Tcg	p.P1069S	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1069	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTACCCGCCCCCGCCACCTCC	0.697000														2			21		0	0	0.008871	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563018	140563018	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140563018A>T	uc003liv.3	+	0	2039	c.884A>T	c.(883-885)aAt>aTt	p.N295I		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAGGTAAATCCTATGACA	0.463000														21			18		0	0	0.007413	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									23			14		0	0	0.004990	0	0
CHCHD7	79145	broad.mit.edu	37	8	57129894	57129894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:57129894C>T	uc003xsv.3	+	4	404	c.233C>T	c.(232-234)tCt>tTt	p.S78F	CHCHD7_uc003xsu.3_Missense_Mutation_p.S65F|CHCHD7_uc003xss.3_3'UTR|CHCHD7_uc003xst.3_3'UTR|CHCHD7_uc003xsx.3_Missense_Mutation_p.S53F|CHCHD7_uc003xsw.3_3'UTR	NM_001011668	NP_001011671	Q9BUK0	CHCH7_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7), transcript variant 2, mRNA.	53									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			ACACAGAATTCTATCGTGATG	0.368000			T	PLAG1	salivary adenoma									12			7		0	0	0.001984	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995720	57995720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:57995720G>A	uc010rkd.2	-	0	671	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTCAGCACGAGGATGCTCACG	0.627000														19			12		0	0	0.001855	0	0
AGAP8	728404	broad.mit.edu	37	10	51225024	51225024	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:51225024A>G	uc001jij.3	-	6	2084	c.1958T>C	c.(1957-1959)cTt>cCt	p.L653P	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Missense_Mutation_p.L568P|AGAP8_uc001jik.3_Missense_Mutation_p.L637P|AGAP8_uc010qgy.2_Missense_Mutation_p.L676P|AGAP8_uc021pqg.1_Missense_Mutation_p.L653P|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	653					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GTACTGCAGAAGCACGTTGAT	0.537000														70			37		0	0	0.007835	0	0
SALL1	6299	broad.mit.edu	37	16	51172844	51172844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:51172844G>A	uc021tif.1	-	1	3320	c.2998C>T	c.(2998-3000)Cct>Tct	p.P1000S	SALL1_uc021tid.1_Missense_Mutation_p.P1000S|SALL1_uc021tie.1_Missense_Mutation_p.P1097S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1097					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTCCTGAGGAGAAACATGC	0.572000														6			22		0	0	0.004656	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688136	68688136	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:68688136A>C	uc001jmz.1	+	1	2012	c.1462A>C	c.(1462-1464)Acg>Ccg	p.T488P	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.T488P	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	488						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACCCACCAACACGGAGACCAG	0.493000														21			12		0	0	0.013537	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895296	45895296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:45895296G>A	uc002pbn.3	-	7	1734	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	PPP1R13L_uc002pbm.3_Missense_Mutation_p.R132C|PPP1R13L_uc002pbo.3_Missense_Mutation_p.R553C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	553	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCCCATGACGATGGAAGAGG	0.692000														39			29		0	0	0.013726	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568655	20568655	+	Silent	SNP	G	A	A	rs147255630		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:20568655G>A	uc001iqg.1	+	13	2134	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PLXDC2_uc001iqh.1_Silent_p.A450A|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	499						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GATGGCCTGCGATGAAGTTTA	0.413000														23			19		0	0	0.010504	0	0
ELTD1	64123	broad.mit.edu	37	1	79403498	79403498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:79403498C>T	uc001diq.4	-	5	910	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.T251M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTACCTATATCCGTTGAATTT	0.378000														41			33		0	0	0.003755	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:166963267G>A	uc001gdy.1	+	4	555	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_uc021peh.1_Missense_Mutation_p.E106K|MAEL_uc001gdz.1_Missense_Mutation_p.E131K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	162					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTATAGGTGAAATTCCACG	0.348000														18			6		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	T	T	rs145926133		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140711128C>T	uc003lji.2	+	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R293C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R293C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000														16			18		0	0	0.007413	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:38227191C>T	uc009vvi.3	-	2	822	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_uc001cbw.4_Missense_Mutation_p.G246R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731000														7			5		0	0	0.001168	0	0
ZFP41	286128	broad.mit.edu	37	8	144332413	144332413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:144332413C>T	uc003yxw.3	+	1	758	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Nonsense_Mutation_p.Q134*	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	134					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACCAAACACCAGAGGACTCA	0.577000														37			25		0	0	0.003330	0	0
COL6A6	131873	broad.mit.edu	37	3	130282280	130282280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:130282280G>A	uc010htl.3	+	1	464	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	145	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGTCTGAGGATAATGTGGA	0.502000														20			13		0	0	0.001855	0	0
RNF220	55182	broad.mit.edu	37	1	45091971	45091971	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:45091971C>T	uc001clv.1	+	4	1167	c.807C>T	c.(805-807)tcC>tcT	p.S269S	RNF220_uc001clw.1_Silent_p.S269S|RNF220_uc010okx.1_Silent_p.S30S|RNF220_uc010oky.1_Silent_p.S30S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	269					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TCTTCCAGTCCCTCCTGTTGT	0.537000														31			20		0	0	0.014323	0	0
WDR7	23335	broad.mit.edu	37	18	54363639	54363639	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:54363639C>T	uc002lgk.1	+	11	1735	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Silent_p.F508F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	508										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATATCTTCTGTGTTCATG	0.363000														31			13		0	0	0.003163	0	0
OR8D1	283159	broad.mit.edu	37	11	124180386	124180386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:124180386G>A	uc010sag.2	-	0	277	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCAGAGTAAAGGATTGTATTC	0.453000														8			10		0	0	0.010729	0	0
KIF22	3835	broad.mit.edu	37	16	29809940	29809940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:29809940C>T	uc002dts.3	+	3	444	c.421C>T	c.(421-423)Cca>Tca	p.P141S	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.P73S|KIF22_uc010vdw.1_Missense_Mutation_p.P73S	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	141	Kinesin-motor.			HTMLGSPEQPGVIPRALMDLLQLTREEGAEGRPWA -> TH AGQPRATWGDPAGSHGPPAAHKGGGCRGPAMG (in Ref. 2).	DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCTGGGCAGCCCAGAGCAACC	0.602000														56			35		0	0	0.005524	0	0
PMS1	5378	broad.mit.edu	37	2	190717402	190717402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:190717402C>T	uc002urh.4	+	6	1250	c.721C>T	c.(721-723)Cca>Tca	p.P241S	PMS1_uc010zga.1_Missense_Mutation_p.P202S|PMS1_uc010zgb.1_Missense_Mutation_p.P180S|PMS1_uc002urk.4_Missense_Mutation_p.P202S|PMS1_uc002uri.4_Missense_Mutation_p.P241S|PMS1_uc010zgc.2_Missense_Mutation_p.P65S|PMS1_uc010zgd.2_Missense_Mutation_p.P65S|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.P202S|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.P26S|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_5'Flank	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	241					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGATTTCTTCCAAAGTGTGA	0.338000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						36			29		0	0	0.007291	0	0
RPE65	6121	broad.mit.edu	37	1	68904735	68904735	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:68904735C>T	uc001dei.1	-	8	942	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	296					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGTACTTTTTCCTTTTTTTGT	0.323000														37			23		0	0	0.002780	0	0
TRHDE	29953	broad.mit.edu	37	12	73012696	73012696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:73012696C>T	uc001sxa.3	+	12	2242	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	738					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAGAATATTCCTCTGGAGAT	0.393000														21			20		0	0	0.002780	0	0
BLK	640	broad.mit.edu	37	8	11418875	11418875	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:11418875A>G	uc003wty.3	+	10	1675	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	BLK_uc003wua.3_Missense_Mutation_p.N201S	NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	365	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGGCGGCCAACATCCTGGTG	0.557000														10			6		0	0	0.001168	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:248436940G>A	uc010pzi.2	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTCAGGAGGAAGTACATGG	0.532000														54			101		0	0	0.014410	0	0
PAK2	5062	broad.mit.edu	37	3	196555215	196555215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:196555215C>T	uc003fwy.4	+	14	1836	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	505					T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	p.P505Q(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGGCCAAACCGTTATCTAGC	0.383000														75			43		0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	142567932	142567932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:142567932C>T	uc002tvj.1	-	1	1093	c.121G>A	c.(121-123)Gat>Aat	p.D41N	LRP1B_uc010fnl.1_Missense_Mutation_p.D78N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	41	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACGTGATCGTGGCAAAGA	0.448000										TSP Lung(27;0.18)				11			16		0	0	0.004007	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381717	162381717	+	Silent	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:162381717T>C	uc001gbz.1	-	0	212	c.90A>G	c.(88-90)ttA>ttG	p.L30L	SH2D1B_uc001gca.1_Silent_p.L30L	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	30	SH2.							p.L29I(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGCTGTCTCTTAAAAGAAAGT	0.507000														75			21		0	0	0.002780	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000														58			9		1.96292e-10	2.16968e-10	0.010504	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140723683C>T	uc003ljm.2	+	0	83	c.83C>T	c.(82-84)tCc>tTc	p.S28F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S28F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S28Y(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			73		0	0	0.014410	0	0
NOMO1	23420	broad.mit.edu	37	16	14972621	14972621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:14972621C>T	uc002dcv.3	+	22	2753	c.2687C>T	c.(2686-2688)tCc>tTc	p.S896F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	896						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCCTCTTATCCCTGAGCGGT	0.498000														171			37		0	0	0.008740	0	0
AGTR1	185	broad.mit.edu	37	3	148459199	148459199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:148459199G>A	uc003ewg.3	+	3	823	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AGTR1_uc003ewh.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewi.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewj.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewk.3_Missense_Mutation_p.R126Q|AGTR1_uc021xfj.1_Missense_Mutation_p.R126Q	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	126					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGCATTGATCGATACCTGGCT	0.507000														57			39		0	0	0.006999	0	0
abParts	0	broad.mit.edu	37	14	107179121	107179121	+	RNA	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:107179121G>A	uc021ser.1	-	37		c.2217C>T								Parts of antibodies, mostly variable regions.																		GGTGACCTGGGATAAGACCCC	0.512000														27			18		0	0	0.004990	0	0
PRSS55	203074	broad.mit.edu	37	8	10390430	10390430	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:10390430G>T	uc003wta.3	+	3	653	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.V205L|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	205	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAAAAACTCTGTGAAAACGGA	0.507000														31			18		2.4624e-09	2.7147e-09	0.008871	1	0
KRT23	25984	broad.mit.edu	37	17	39092465	39092465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:39092465C>T	uc002hvm.1	-	1	980	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.E131K|KRT23_uc002hvn.1_Missense_Mutation_p.E131K	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	131	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTTACCTGCTCCTGCAGGTGT	0.512000														32			30		0	0	0.009535	0	0
UTP18	51096	broad.mit.edu	37	17	49374332	49374332	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:49374332C>T	uc002its.3	+	12	1702	c.1653C>T	c.(1651-1653)caC>caT	p.H551H		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	551				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CCAGGTTGCACCATTACTCAG	0.353000														21			17		0	0	0.008871	0	0
GALNT8	26290	broad.mit.edu	37	12	4853771	4853771	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:4853771G>A	uc001qne.1	+	3	857	c.765G>A	c.(763-765)agG>agA	p.R255R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	255	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCCTGAAAGGAAAGGTCTTG	0.468000														13			12		0	0	0.013537	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374018	86374018	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:86374018G>A	uc010sum.2	-	5	717	c.558C>T	c.(556-558)caC>caT	p.H186H	MGAT4C_uc001tal.4_Silent_p.H162H|MGAT4C_uc001taj.4_Silent_p.H162H|MGAT4C_uc001tak.4_Silent_p.H162H|MGAT4C_uc001tai.4_Silent_p.H162H|MGAT4C_uc001tah.4_Silent_p.H162H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	162					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.H162_H163>QN(1)|p.H162Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAATAATATGGTGCGCAAATT	0.403000														29			30		0	0	0.006320	0	0
OR1L4	254973	broad.mit.edu	37	9	125486832	125486832	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:125486832C>T	uc004bmu.1	+	0	564	c.564C>T	c.(562-564)ctC>ctT	p.L188L		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCTAAAGCTCTCCTGCTCTG	0.498000														114			54		0	0	0.014410	0	0
SPNS2	124976	broad.mit.edu	37	17	4435968	4435968	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:4435968C>T	uc002fxx.2	+	5	1138	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	308					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ATATGAAGGCCCTGATTCGAA	0.612000														20			15		0	0	0.002450	0	0
TRPC7	57113	broad.mit.edu	37	5	135587556	135587556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:135587556C>T	uc003lbn.2	-	5	1582	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	TRPC7_uc010jef.2_Missense_Mutation_p.E390K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.E5K|TRPC7_uc010jeh.2_Missense_Mutation_p.E393K|TRPC7_uc010jei.2_Missense_Mutation_p.E338K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	454					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.E454D(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTTGCATTCGGACCAAATC	0.537000														19			12		0	0	0.010729	0	0
CCDC42	146849	broad.mit.edu	37	17	8638462	8638462	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:8638462C>T	uc002gln.3	-	5	1052	c.825G>A	c.(823-825)aaG>aaA	p.K275K	CCDC42_uc002glo.3_Silent_p.K201K	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	275										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAGTCACCTCCTTCAGGTGCT	0.627000														15			12		0	0	0.001855	0	0
MDC1	9656	broad.mit.edu	37	6	30671832	30671832	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:30671832T>A	uc003nrg.4	-	9	5568	c.5128A>T	c.(5128-5130)Att>Ttt	p.I1710F	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.I1317F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1710	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGAAATAGGCTGGTCT	0.547000								Other conserved DNA damage response genes						73			59		0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56485147	56485147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:56485147G>A	uc002qmh.3	+	6	2735	c.2664G>A	c.(2662-2664)tgG>tgA	p.W888*	NLRP8_uc010etg.3_Nonsense_Mutation_p.W869*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	888						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCATATTTGGAATGCCCTGC	0.512000														49			41		0	0	0.010771	0	0
LIFR	3977	broad.mit.edu	37	5	38510728	38510728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:38510728C>T	uc010ive.1	-	6	1161	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	LIFR_uc003jli.2_Missense_Mutation_p.V277M	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	277					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTGATAACACTTTTTCTTGA	0.383000			T	PLAG1	salivary adenoma									10			21		0	0	0.008871	0	0
SARDH	1757	broad.mit.edu	37	9	136597651	136597651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:136597651C>T	uc004cep.4	-	2	538	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	SARDH_uc004ceo.3_Missense_Mutation_p.R135Q|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.R135Q	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	135					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.R135W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCCAGCTCCCGGCTCACCAC	0.677000														51			35		0	0	0.006999	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705405	95705405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:95705405G>A	uc003uoc.4	+	14	1874	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	DYNC1I1_uc003uod.4_Missense_Mutation_p.D516N|DYNC1I1_uc003uob.3_Missense_Mutation_p.D496N|DYNC1I1_uc003uoe.4_Missense_Mutation_p.D513N|DYNC1I1_uc010lfl.3_Missense_Mutation_p.D522N	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	533					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGACAATGCAGACTATGTGTA	0.557000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			48		0	0	0.014410	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141635679C>T	uc003vwv.1	-	4	477	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_uc011krm.1_Missense_Mutation_p.E71K|CLEC5A_uc003vww.1_Missense_Mutation_p.E94K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E71K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000														32			28		0	0	0.007291	0	0
STOX1	219736	broad.mit.edu	37	10	70645141	70645141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:70645141C>T	uc001jos.2	+	2	1676	c.1589C>T	c.(1588-1590)cCt>cTt	p.P530L	STOX1_uc001joq.3_Missense_Mutation_p.P420L|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.P420L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	530						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAGGAAAAGCCTTTCCAAAAG	0.443000														7			10		0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38597168	38597168	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38597168C>T	uc021wvo.1	-	24	4573	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q	SCN5A_uc021wvk.1_Silent_p.Q1506Q|SCN5A_uc021wvl.1_Silent_p.Q1453Q|SCN5A_uc021wvm.1_Silent_p.Q1489Q|SCN5A_uc021wvn.1_Silent_p.Q1506Q|SCN5A_uc021wvp.1_Silent_p.Q1507Q|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.Q1319Q|SCN5A_uc021wvi.1_Silent_p.Q1373Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1507			Missing (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGGGCTTCTGGGGCTTCT	0.582000														50			31		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	14	106667784	106667784	+	RNA	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:106667784C>T	uc021ser.1	-	1314		c.27143G>A								Parts of antibodies, mostly variable regions.																		ATGCCATAATCATCAAAGGTG	0.572000														96			38		0	0	0.005524	0	0
BHMT	635	broad.mit.edu	37	5	78423682	78423682	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:78423682T>C	uc003kfu.4	+	6	1018	c.913T>C	c.(913-915)Tac>Cac	p.Y305H	BHMT_uc011cti.2_Missense_Mutation_p.Y152H	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	305	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P304P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATTTGAGCCCTACCACATCAG	0.542000														19			14		0	0	0.001855	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519372	28519372	+	RNA	SNP	C	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:28519372C>A	uc001uru.3	+	0		c.30C>A								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						CGATTTGGCCCGACGCGCTCC	0.493000														13			6		0.00116845	0.00128484	0.001168	1	0
DCDC1	341019	broad.mit.edu	37	11	31312346	31312346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:31312346G>A	uc001msv.3	-	6	1046	c.808C>T	c.(808-810)Cct>Tct	p.P270S	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	270					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATATCAGTAGGAAGCATCAAC	0.338000														22			16		0	0	0.007413	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665012	6665012	+	Silent	SNP	G	A	A	rs143839697		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:6665012G>A	uc002mfk.2	-	4	1030	c.648C>T	c.(646-648)gtC>gtT	p.V216V	TNFSF14_uc002mfj.2_Silent_p.V180V	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	216					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.V216V(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GCACACGGACGACCACCTTCT	0.622000														29			25		0	0	0.003954	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816349	26816349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:26816349G>A	uc010wan.2	+	1	287	c.220G>A	c.(220-222)Gat>Aat	p.D74N	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Missense_Mutation_p.D30N|SLC13A2_uc002hbh.3_Missense_Mutation_p.D74N|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGGCATCGTGGATGCCTCTGA	0.607000														21			11		0	0	0.008291	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:97887590G>A	uc011bgu.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000														49			31		0	0	0.008740	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546526	2546526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2546526C>T	uc002cql.3	+	1	517	c.377C>T	c.(376-378)cCc>cTc	p.P126L	TBC1D24_uc002cqk.3_Missense_Mutation_p.P126L|TBC1D24_uc002cqm.3_Missense_Mutation_p.P126L|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	126	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AACCAGTTCCCCGACATCTCC	0.672000														32			17		0	0	0.008871	0	0
BRCA2	675	broad.mit.edu	37	13	32907431	32907431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:32907431C>T	uc001uub.1	+	9	2043	c.1816C>T	c.(1816-1818)Ccg>Tcg	p.P606S	BRCA2_uc001uua.1_Missense_Mutation_p.P483S	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.I605fs*11(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAAATACCGAAAGACCA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				7			25		0	0	0.002780	0	0
PCMTD2	55251	broad.mit.edu	37	20	62895799	62895799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62895799C>T	uc002yil.4	+	2	525	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	PCMTD2_uc002yim.4_Missense_Mutation_p.H109Y	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	109						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGTGTGAACCATGGGGTGGA	0.383000														14			8		0	0	0.003080	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663193	167663193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:167663193C>T	uc011cjq.1	-	7	1042	c.985G>A	c.(985-987)Gag>Aag	p.E329K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E320K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E200K|SPOCK3_uc003iri.1_Missense_Mutation_p.E320K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E269K|SPOCK3_uc003irj.1_Missense_Mutation_p.E317K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E228K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E277K|SPOCK3_uc011cju.1_Missense_Mutation_p.E224K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E222K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	320	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.K328N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTGCTGAGCTCAGTCTGGCAA	0.378000														33			25		0	0	0.003330	0	0
AFP	174	broad.mit.edu	37	4	74318310	74318310	+	Nonsense_Mutation	SNP	C	T	T	rs144607501		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:74318310C>T	uc003hgz.1	+	11	1668	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	AFP_uc011cbg.1_Nonsense_Mutation_p.Q315*	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	541	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGCCAAGCTCAGGGTGTAGC	0.458000									Alpha-Fetoprotein, Hereditary Persistence of					12			11		0	0	0.013537	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524126	24524126	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:24524126G>A	uc002wtw.1	+	1	1026	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCCGGATGGGAAGTTCATTG	0.597000														46			47		0	0	0.014410	0	0
CNGA3	1261	broad.mit.edu	37	2	99012791	99012791	+	Silent	SNP	G	A	A	rs146142409	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:99012791G>A	uc010fij.3	+	7	1311	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	CNGA3_uc002syt.3_Silent_p.L386L|CNGA3_uc002syu.3_Silent_p.L368L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	386					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TAGACTTCTTGGTGGGTGTTC	0.502000														23			24		0	0	0.003330	0	0
GPR155	151556	broad.mit.edu	37	2	175333794	175333794	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:175333794A>T	uc002uit.3	-	6	1418	c.1027_splice	c.e6-1	p.I343_splice	GPR155_uc002uiu.3_Splice_Site_p.I343_splice|GPR155_uc002uiv.3_Splice_Site_p.I343_splice|GPR155_uc010fqs.3_Splice_Site_p.I343_splice	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	343					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CCCTGAGGTTATCTGCAAAAA	0.378000														13			15		0	0	0.004007	0	0
C15orf24	56851	broad.mit.edu	37	15	34393911	34393911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:34393911G>A	uc001zhm.3	-	0	143	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	44						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCTTGAAGCGATCTCCTATG	0.637000														48			49		0	0	0.014410	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:35083353C>T	uc001ziu.1	-	5	1195	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000														111			92		0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124315142	124315142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:124315142G>A	uc001uft.4	+	24	4112	c.4087G>A	c.(4087-4089)Gaa>Aaa	p.E1363K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1363	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAATGACCGAAACGTTCAC	0.383000														19			12		0	0	0.001855	0	0
LOX	4015	broad.mit.edu	37	5	121409775	121409775	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:121409775A>C	uc003ksu.3	-	3	1343	c.968T>G	c.(967-969)tTc>tGc	p.F323C	LOX_uc010jcp.3_Missense_Mutation_p.F26C|LOX_uc010jcq.3_Missense_Mutation_p.F26C|LOX_uc010jcr.3_Missense_Mutation_p.F26C|LOX_uc011cwk.2_Missense_Mutation_p.F93C	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	323	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TTCAAGACAGAAACTTGCTTT	0.488000														75			52		0	0	0.014410	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:70066197C>T	uc003heh.3	-	5	1560	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000														26			31		0	0	0.009535	0	0
ADAM20	8748	broad.mit.edu	37	14	70989629	70989629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:70989629G>A	uc021rvs.1	-	0	1996	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	ADAM20_uc001xme.3_Missense_Mutation_p.P666S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	616					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCTTTTCTGGACCACATACT	0.468000														81			64		0	0	0.014410	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656543	40656543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:40656543C>T	uc002rrx.3	-	0	902	c.878G>A	c.(877-879)gGg>gAg	p.G293E	SLC8A1_uc002rry.3_Missense_Mutation_p.G293E|SLC8A1_uc002rsb.2_Missense_Mutation_p.G293E|SLC8A1_uc002rrz.3_Missense_Mutation_p.G293E|SLC8A1_uc002rsa.3_Missense_Mutation_p.G293E|SLC8A1_uc002rsd.4_Missense_Mutation_p.G293E|SLC8A1_uc010fan.1_Missense_Mutation_p.G293E|SLC8A1_uc002rsc.1_Missense_Mutation_p.G293E	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.D292D(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACCACTTTCCCGTCCATTTC	0.443000														66			54		0	0	0.014410	0	0
CD163	9332	broad.mit.edu	37	12	7639347	7639347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:7639347G>A	uc001qsz.3	-	9	2334	c.2206C>T	c.(2206-2208)Cat>Tat	p.H736Y	CD163_uc001qta.3_Missense_Mutation_p.H736Y|CD163_uc009zfw.2_Missense_Mutation_p.H769Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	736	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGCCCTCATGATAGATCTCT	0.517000														32			25		0	0	0.007291	0	0
RSG1	79363	broad.mit.edu	37	1	16559008	16559008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:16559008G>A	uc001ayd.3	-	3	946	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	175	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGGATACTTGGAGCCGATGAC	0.582000														19			6		0	0	0.001168	0	0
NLRP2	55655	broad.mit.edu	37	19	55495074	55495074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:55495074G>A	uc021vbq.1	+	5	2119	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	NLRP2_uc010yfp.2_Missense_Mutation_p.E647K|NLRP2_uc002qij.3_Missense_Mutation_p.E670K|NLRP2_uc010esp.3_Missense_Mutation_p.E648K|NLRP2_uc010esn.3_Missense_Mutation_p.E646K|NLRP2_uc010eso.3_Missense_Mutation_p.E667K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	670					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACTGCGTCTGAATCAGACGC	0.517000														29			22		0	0	0.004656	0	0
SRRM1	10250	broad.mit.edu	37	1	24979044	24979045	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:24979044_24979045CC>TT	uc001bjm.3	+	6	1069_1070	c.845_846CC>TT	c.(844-846)tcc>tTT	p.S282F	SRRM1_uc010oel.2_Missense_Mutation_p.S282F|SRRM1_uc009vrh.1_Missense_Mutation_p.S243F|SRRM1_uc009vri.1_Missense_Mutation_p.S199F|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	282	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGTCACGCTCCAAATCAAGAT	0.495000														20			14		0	0	0.004672	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040203	128040203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:128040203G>A	uc011kol.1	-	5	671	c.565C>T	c.(565-567)Cca>Tca	p.P189S	IMPDH1_uc011kom.1_Missense_Mutation_p.P184S|IMPDH1_uc003vmt.2_Missense_Mutation_p.P164S|IMPDH1_uc003vmu.2_Missense_Mutation_p.P274S|IMPDH1_uc003vmx.2_Missense_Mutation_p.P197S|IMPDH1_uc003vmy.2_Missense_Mutation_p.P205S|IMPDH1_uc003vmw.2_Missense_Mutation_p.P264S|IMPDH1_uc011kon.1_Missense_Mutation_p.P241S|IMPDH1_uc003vmv.2_Missense_Mutation_p.P238S	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	189	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACACCTGCTGGAGCCACCACC	0.567000														75			59		0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48506563	48506563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:48506563G>A	uc003toq.2	+	43	12850	c.12826G>A	c.(12826-12828)Gac>Aac	p.D4276N	ABCA13_uc010kys.1_Missense_Mutation_p.D1351N|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4276					transport	integral to membrane	ATP binding|ATPase activity	p.D4221N(1)|p.D4276N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTGGGGGCGACAACTTGGA	0.498000														39			22		0	0	0.003954	0	0
TNR	7143	broad.mit.edu	37	1	175328867	175328867	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:175328867G>A	uc001gkp.1	-	13	2936	c.2855_splice	c.e13-1	p.A952_splice	TNR_uc009wwu.1_Splice_Site_p.A952_splice	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	952	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGTCCATGGCTGAAACAGA	0.478000														28			10		0	0	0.008291	0	0
PSMD5	5711	broad.mit.edu	37	9	123605157	123605157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:123605157C>T	uc004bko.3	-	0	50	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PSMD5_uc011lye.2_Missense_Mutation_p.E11K|DQ573668_uc004bkq.3_5'Flank|DQ573668_uc004bkp.3_5'Flank	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	11					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						CTCGCTACCTCTCTCAGCAGC	0.692000														8			5		0	0	0.001168	0	0
LUZP1	7798	broad.mit.edu	37	1	23418837	23418837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:23418837G>A	uc001bgk.2	-	3	2468	c.1918C>T	c.(1918-1920)Ccg>Tcg	p.P640S	LUZP1_uc010odv.1_Missense_Mutation_p.P640S|LUZP1_uc001bgl.3_Missense_Mutation_p.P640S|LUZP1_uc001bgm.1_Missense_Mutation_p.P640S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTTCATGCGGACTGCTGTCT	0.458000														75			58		0	0	0.014410	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927606	43927606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:43927606G>A	uc010yny.2	+	7	1592	c.1509G>A	c.(1507-1509)atG>atA	p.M503I	PLEKHH2_uc002rte.3_Missense_Mutation_p.M503I|PLEKHH2_uc002rtf.3_Missense_Mutation_p.M502I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	503						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGAGAATATGGACACGAGTT	0.413000														187			154		0	0	0.014410	0	0
ZNF532	55205	broad.mit.edu	37	18	56587575	56587575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:56587575C>T	uc010xeg.2	+	2	2253	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	ZNF532_uc002lhp.3_Missense_Mutation_p.P684S|ZNF532_uc002lho.3_Missense_Mutation_p.P686S|ZNF532_uc002lhr.3_Missense_Mutation_p.P684S|ZNF532_uc002lhs.3_Missense_Mutation_p.P684S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAAGCCAGTCCCAGCAGATCA	0.468000														42			39		0	0	0.009718	0	0
VARS	7407	broad.mit.edu	37	6	31762896	31762896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:31762896C>T	uc003nxe.3	-	1	522	c.99G>A	c.(97-99)tgG>tgA	p.W33*	VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	33					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGCTCCTCCCCATCCGGGAC	0.706000														168			124		0	0	0.014410	0	0
FNDC7	163479	broad.mit.edu	37	1	109271457	109271457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:109271457G>A	uc001dvx.3	+	7	1573	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	FNDC7_uc010ova.2_Missense_Mutation_p.E292K	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	526	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGCTGTGGCCGAAACACAGGC	0.577000														30			20		0	0	0.010504	0	0
TP63	8626	broad.mit.edu	37	3	189526085	189526085	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:189526085C>T	uc003fry.2	+	3	438	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	TP63_uc003frx.2_Silent_p.L117L|TP63_uc003frz.2_Silent_p.L117L|TP63_uc010hzc.1_Silent_p.L117L|TP63_uc003fsa.2_Silent_p.L23L|TP63_uc003fsb.2_Silent_p.L23L|TP63_uc003fsc.2_Silent_p.L23L|TP63_uc003fsd.2_Silent_p.L23L|TP63_uc021xir.1_Silent_p.L23L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	117					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTGGGGCTCCTGAACAGCAT	0.577000										HNSCC(45;0.13)				27			16		0	0	0.006122	0	0
MYOM3	127294	broad.mit.edu	37	1	24389691	24389691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:24389691G>A	uc001bin.4	-	31	3858	c.3695C>T	c.(3694-3696)aCc>aTc	p.T1232I	MYOM3_uc001bil.4_Missense_Mutation_p.T125I|MYOM3_uc001bim.4_Missense_Mutation_p.T889I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1232										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCCTTCCTCGGTCCCCTGGAT	0.542000														28			22		0	0	0.003954	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718421	103718422	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:103718421_103718422CC>TA	uc001vpy.4	-	0	775_776	c.178_179GG>TA	c.(178-180)ggg>TAg	p.G60*		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	60					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTATGTGCCCTAGAAATTTC	0.500000														47			50		0	0	0.004672	0	0
DCAF6	55827	broad.mit.edu	37	1	167973951	167973951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167973951C>T	uc001gew.3	+	9	1651	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	DCAF6_uc001gex.3_Missense_Mutation_p.S433F|DCAF6_uc010plk.2_Missense_Mutation_p.S402F|DCAF6_uc001gev.3_Missense_Mutation_p.S433F|DCAF6_uc001gey.3_Missense_Mutation_p.S286F	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	433					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGCCCTCATTCTACTCCTTTG	0.463000														33			76		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100678460	100678460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:100678460G>A	uc003uxp.1	+	2	3816	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1255	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTGCTGAAACCAGTTC	0.502000														143			104		0	0	0.014410	0	0
PGA3	643834	broad.mit.edu	37	11	60971722	60971722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60971722C>T	uc001nqx.3	+	1	253	c.200C>T	c.(199-201)cCc>cTc	p.P67L		NM_001079807	NP_001073275			Homo sapiens pepsinogen 3, group I (pepsinogen A) (PGA3), mRNA.									p.P67P(1)		endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GATGAACAGCCCCTGGAGAAC	0.602000														65			40		0	0	0.011902	0	0
INHA	3623	broad.mit.edu	37	2	220439751	220439751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:220439751C>T	uc002vmk.2	+	1	747	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	202					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCGCTGTCCCCTCTGTACCTG	0.682000														24			27		0	0	0.005443	0	0
URB2	9816	broad.mit.edu	37	1	229773405	229773405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:229773405G>A	uc001hts.1	+	3	3181	c.3045G>A	c.(3043-3045)atG>atA	p.M1015I	URB2_uc009xfd.1_Missense_Mutation_p.M1015I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1015						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCATCCAAATGAAGCTGAGCT	0.438000														52			21		0	0	0.008871	0	0
OR2K2	26248	broad.mit.edu	37	9	114090649	114090650	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:114090649_114090650CC>AT	uc011lwp.2	-	0	64_65	c.64_65GG>AT	c.(64-66)ggg>ATg	p.G22M		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CACTTCTAACCCTGGGTACTGG	0.401000														24			15		0	0	0.004672	0	0
KCNH8	131096	broad.mit.edu	37	3	19575436	19575436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:19575436C>T	uc003cbk.1	+	15	3364	c.3169C>T	c.(3169-3171)Cag>Tag	p.Q1057*	KCNH8_uc010hex.1_Nonsense_Mutation_p.Q518*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1057	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCTTCAGTCAGGGAACTGT	0.483000														18			19		0	0	0.007413	0	0
CSF1R	1436	broad.mit.edu	37	5	149440464	149440464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:149440464C>T	uc003lrl.3	-	12	2125	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.E644K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	644	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACGATGTTCTCGTGCTGGCCC	0.612000														13			7		0	0	0.006214	0	0
NRXN1	9378	broad.mit.edu	37	2	50733643	50733643	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:50733643C>T	uc021vhh.1	-	11	3408	c.2487G>A	c.(2485-2487)caG>caA	p.Q829Q	NRXN1_uc002rxb.4_Silent_p.Q501Q|NRXN1_uc021vhg.1_Silent_p.Q869Q|NRXN1_uc021vhi.1_Silent_p.Q865Q|NRXN1_uc021vhj.1_Silent_p.Q825Q|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	829	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTCATGGCCTGTTGGTCAT	0.453000														6			9		0	0	0.004482	0	0
ITGB5	3693	broad.mit.edu	37	3	124536493	124536493	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:124536493A>T	uc003eho.3	-	7	1400	c.1103T>A	c.(1102-1104)aTt>aAt	p.I368N	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	368	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AATCAGTTGAATAATATTTTT	0.433000														18			10		0	0	0.008291	0	0
HPSE2	60495	broad.mit.edu	37	10	100401655	100401655	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:100401655C>T	uc001kpn.2	-	6	1120	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	HPSE2_uc009xwc.2_Silent_p.L349L|HPSE2_uc001kpo.2_Silent_p.L291L|HPSE2_uc009xwd.2_Silent_p.L237L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	349					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCGAGTTTTCAGGAAGTCCA	0.398000														82			64		0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181549870	181549870	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:181549870C>T	uc009wxt.3	+	5	1104	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CACNA1E_uc001gow.3_Silent_p.F303F|CACNA1E_uc009wxs.3_Silent_p.F303F|CACNA1E_uc009wxr.3_Silent_p.F210F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	303					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACTGTCTTCCAGTGCATCA	0.542000														56			16		0	0	0.004007	0	0
KRT85	3891	broad.mit.edu	37	12	52754687	52754687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:52754687G>A	uc001sag.3	-	8	1594	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	492	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGAGGAACGAGGCTGGCAG	0.652000														38			25		0	0	0.003954	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:161116303C>T	uc003lyu.2	+	4	828	c.490C>T	c.(490-492)Cct>Tct	p.P164S	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)				29			19		0	0	0.014323	0	0
OR8B4	283162	broad.mit.edu	37	11	124294361	124294361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:124294361G>A	uc010sak.2	-	0	407	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GACCCTTGGGGACATGGTGAC	0.507000														18			11		0	0	0.013537	0	0
SYT8	90019	broad.mit.edu	37	11	1858457	1858457	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:1858457C>T	uc001lue.1	+	8	1130	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	SYT8_uc001lud.2_Silent_p.S334S|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	334	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGACCGCAGCCTGCCGCTCC	0.672000														16			7		0	0	0.004482	0	0
OR13C9	286362	broad.mit.edu	37	9	107380040	107380040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:107380040C>T	uc011lvr.2	-	0	446	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCCTGCAAACCAGGACCCAAC	0.443000														34			23		0	0	0.002780	0	0
KLHL13	90293	broad.mit.edu	37	X	117032927	117032927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:117032927G>A	uc011mtp.2	-	7	2054	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	KLHL13_uc004eqk.3_Missense_Mutation_p.P587S|KLHL13_uc004eql.3_Missense_Mutation_p.P638S|KLHL13_uc011mtn.2_Missense_Mutation_p.P478S|KLHL13_uc011mto.2_Missense_Mutation_p.P632S|KLHL13_uc011mtq.2_Missense_Mutation_p.P622S|KLHL13_uc004eqm.3_Missense_Mutation_p.P596S|KLHL13_uc022cde.1_Missense_Mutation_p.P622S	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	638					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCTGGTGGAAAAACTGTG	0.423000														2			23		0	0	0.014323	0	0
ZNF836	162962	broad.mit.edu	37	19	52659922	52659923	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:52659922_52659923GG>AA	uc010ydj.2	-	4	1535_1536	c.1013_1014CC>TT	c.(1012-1014)acc>aTT	p.T338I	ZNF836_uc010ydi.2_Missense_Mutation_p.T338I	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGTTTGAAGGTTTTCCCACA	0.386000														11			6		0	0	0.004672	0	0
TRHDE	29953	broad.mit.edu	37	12	73012771	73012771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:73012771C>T	uc001sxa.3	+	12	2317	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	763					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCTCTTTATCCTCTAGATAA	0.363000														16			17		0	0	0.010504	0	0
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:56321382C>T	uc002ivt.3	+	2	420	c.104C>T	c.(103-105)tCc>tTc	p.S35F	LPO_uc010dco.2_Missense_Mutation_p.S35F|LPO_uc010wnr.1_Intron|LPO_uc010wns.2_Intron|LPO_uc010dcp.3_Intron	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	35					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGCCATCTCCGATACTGTG	0.542000														17			18		0	0	0.003330	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073652	73073652	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:73073652C>T	uc001otu.3	+	13	4890	c.4869C>T	c.(4867-4869)ctC>ctT	p.L1623L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1623					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCCGGGCCTCGGCGAGGGTG	0.701000														18			21		0	0	0.008871	0	0
OR2T5	401993	broad.mit.edu	37	1	248651955	248651955	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:248651955C>T	uc001iem.1	+	0	66	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACGATCCA	0.483000														131			37		0	0	0.014410	0	0
SCN4A	6329	broad.mit.edu	37	17	62022096	62022096	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:62022096G>A	uc002jds.1	-	20	3926	c.3849C>T	c.(3847-3849)tcC>tcT	p.S1283S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1283					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGTGAAGAAGGAGCCAAAGA	0.547000														8			4		0	0	0.009096	0	0
WIPF3	644150	broad.mit.edu	37	7	29927732	29927732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:29927732C>T	uc022aaz.1	+	5	1330	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	WIPF3_uc003taj.2_Missense_Mutation_p.S383L	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	383										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCTGCGAGATCACCTACCACA	0.567000														7			10		0	0	0.008291	0	0
CYLC1	1538	broad.mit.edu	37	X	83126562	83126562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:83126562C>T	uc004eei.1	+	2	182	c.161C>T	c.(160-162)tCa>tTa	p.S54L	CYLC1_uc004eeh.1_Missense_Mutation_p.S53L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	54				S -> G (in Ref. 3; CAA80457).	cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CCTTTGAAATCACAAATAACA	0.299000														6			17		0	0	0.004990	0	0
SCN5A	6331	broad.mit.edu	37	3	38608041	38608041	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38608041C>T	uc021wvo.1	-	19	3751	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K	SCN5A_uc021wvk.1_Silent_p.K1232K|SCN5A_uc021wvl.1_Silent_p.K1179K|SCN5A_uc021wvm.1_Silent_p.K1233K|SCN5A_uc021wvn.1_Silent_p.K1232K|SCN5A_uc021wvp.1_Silent_p.K1233K|SCN5A_uc021wvq.1_Silent_p.K1232K|SCN5A_uc021wvr.1_Silent_p.K1233K|SCN5A_uc021wvs.1_Silent_p.K1233K|SCN5A_uc021wvt.1_Silent_p.K1232K|SCN5A_uc021wvu.1_Silent_p.K1179K|SCN5A_uc021wvv.1_Silent_p.K1233K|SCN5A_uc021wvj.1_Silent_p.K1045K|SCN5A_uc021wvi.1_Silent_p.K1099K|SCN5A_uc021wvw.1_Silent_p.K843K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1233					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTTGATGGTCTTCCGCTCCT	0.542000														22			18		0	0	0.008871	0	0
MUC6	4588	broad.mit.edu	37	11	1017355	1017355	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:1017355T>G	uc001lsw.2	-	30	5497	c.5446A>C	c.(5446-5448)Act>Cct	p.T1816P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1816	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGTTGCAGTGACAGGACCT	0.587000														547			65		0	0	0.014410	0	0
NPHS1	4868	broad.mit.edu	37	19	36333297	36333297	+	Silent	SNP	G	A	A	rs114635782	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:36333297G>A	uc002oby.3	-	17	2646	c.2490C>T	c.(2488-2490)ctC>ctT	p.L830L	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	830	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAACAAGACGGAGCAGCCGTC	0.582000														35			18		0	0	0.006122	0	0
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92268712G>A	uc001xzu.4	-	3	546	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	TC2N_uc001xzt.4_Nonsense_Mutation_p.Q119*|TC2N_uc010auc.3_Nonsense_Mutation_p.Q119*|TC2N_uc001xzv.4_Nonsense_Mutation_p.Q119*	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418000														26			13		0	0	0.003163	0	0
FITM2	128486	broad.mit.edu	37	20	42939751	42939751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:42939751C>T	uc002xlr.1	-	0	139	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.	13					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CACCAGCGTTCCCCGCAACAA	0.701000											OREG0025965	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			3		0	0	0.009096	0	0
USH1C	10083	broad.mit.edu	37	11	17518312	17518312	+	Missense_Mutation	SNP	C	T	T	rs138123405	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:17518312C>T	uc001mnf.3	-	19	1748	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N	USH1C_uc001mne.3_Missense_Mutation_p.D847N|USH1C_uc009yhb.3_Missense_Mutation_p.D528N|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.D511N	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	547					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACAGCTCATCGTCATACTCC	0.572000														16			18		0	0	0.007413	0	0
RNF6	6049	broad.mit.edu	37	13	26788621	26788621	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:26788621C>T	uc001uqo.3	-	4	1743	c.1398G>A	c.(1396-1398)agG>agA	p.R466R	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Silent_p.R466R|RNF6_uc001uqq.3_Silent_p.R466R|RNF6_uc010tdk.2_Silent_p.R110R	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	466					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCTCAGAAATCCTACGAAGAG	0.448000														37			47		0	0	0.013114	0	0
SAMD9	54809	broad.mit.edu	37	7	92734852	92734852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:92734852G>A	uc003umf.3	-	2	829	c.559C>T	c.(559-561)Cca>Tca	p.P187S	SAMD9_uc003umg.3_Missense_Mutation_p.P187S|SAMD9_uc022ahg.1_Missense_Mutation_p.P187S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	187						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGATTGCCTGGTCCTGTTTCA	0.388000														49			34		0	0	0.012213	0	0
MTFMT	123263	broad.mit.edu	37	15	65297275	65297275	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:65297275C>T	uc002aof.4	-	8	919	c.893_splice	c.e8-1	p.D298_splice		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	298						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AATTTTGGATCTGAAGAATGG	0.323000														24			20		0	0	0.010504	0	0
NUP205	23165	broad.mit.edu	37	7	135261829	135261829	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:135261829A>G	uc003vsw.3	+	4	632	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	201					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGTTTGAGAAACTACAGCG	0.418000														11			18		0	0	0.010504	0	0
ACTN2	88	broad.mit.edu	37	1	236906244	236906244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:236906244G>A	uc001hyf.2	+	10	1360	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ACTN2_uc001hyg.2_Missense_Mutation_p.E178K|ACTN2_uc009xgi.1_Missense_Mutation_p.E386K|ACTN2_uc010pxu.1_Missense_Mutation_p.E75K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	386					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAGGGTTACGAGGAGTGGTT	0.542000														62			30		0	0	0.008361	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277621	140277621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:140277621G>A	uc003etn.3	+	11	2153	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	655					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGTGCCAGGGGAGTGACCCT	0.567000										HNSCC(16;0.037)				30			20		0	0	0.012319	0	0
ADARB1	104	broad.mit.edu	37	21	46595714	46595714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:46595714C>T	uc002zgy.2	+	3	533	c.98C>T	c.(97-99)cCt>cTt	p.P33L	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.P33L|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.P33L|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.P33L|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.P82L	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	33					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGCAGCACACCTGGGCCTGGC	0.607000														78			50		0	0	0.014410	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681805	69681805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:69681805G>A	uc003hee.3	+	0	93	c.68G>A	c.(67-69)gGa>gAa	p.G23E	UGT2B10_uc011cam.2_Missense_Mutation_p.G23E	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	23					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGGAGTTGTGGAAAGGTGCTG	0.438000														67			48		0	0	0.014410	0	0
PDE8B	8622	broad.mit.edu	37	5	76703223	76703223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:76703223C>T	uc003kfa.3	+	12	1351	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	PDE8B_uc003kfd.3_Missense_Mutation_p.R389C|PDE8B_uc003kfe.3_Missense_Mutation_p.R339C|PDE8B_uc003kfb.3_Missense_Mutation_p.R416C|PDE8B_uc003kfc.3_Missense_Mutation_p.R436C	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	436					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.R436C(2)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTGCAGAATCGTCGCTATCC	0.592000														126			91		0	0	0.014410	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342339	60342339	+	RNA	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:60342339A>C	uc010woz.2	-	13		c.1790T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TGTTAAGCCTAGGGAAATTAT	0.478000														48			8		0	0	0.006122	0	0
RYR1	6261	broad.mit.edu	37	19	39017643	39017643	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:39017643A>T	uc002oit.3	+	71	10767	c.10637A>T	c.(10636-10638)gAt>gTt	p.D3546V	RYR1_uc002oiu.3_Missense_Mutation_p.D3541V|RYR1_uc002oiv.1_Missense_Mutation_p.D461V|RYR1_uc010xuf.1_Missense_Mutation_p.D466V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3546					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	AAAGACACAGATGAGGAGGTC	0.547000														30			17		0	0	0.007413	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314218	153314218	+	Silent	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:153314218T>C	uc001fbo.3	-	5	575	c.510A>G	c.(508-510)gaA>gaG	p.E170E	PGLYRP4_uc001fbp.3_Silent_p.E166E	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	170					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATTAGGTTTTCCATGGCCG	0.557000														111			48		0	0	0.014410	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140558451C>T	uc011dai.2	+	0	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	279	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S279F(2)|p.S279S(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATTTCCTATTCACTT	0.413000														361			28		0	0	0.008361	0	0
TMEM182	130827	broad.mit.edu	37	2	103378704	103378704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:103378704G>A	uc010fjb.3	+	0	215	c.28G>A	c.(28-30)Gga>Aga	p.G10R	TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	10						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TATCTTCTTTGGAGCTCTCTT	0.368000														11			14		0	0	0.001855	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77354998	77354998	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:77354998G>A	uc002ffc.4	-	14	2684	c.2265C>T	c.(2263-2265)taC>taT	p.Y755Y	ADAMTS18_uc010chc.1_Silent_p.Y343Y|ADAMTS18_uc002ffe.1_Silent_p.Y451Y	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	755	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTGGTTGAGGTACAGGCCTT	0.398000														1			30		0	0	0.013726	0	0
CDH18	1016	broad.mit.edu	37	5	19483628	19483628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:19483628C>T	uc003jgd.3	-	11	2198	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.R555K|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	555	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCGACTAAATCTCCTCCGCCT	0.443000														15			8		0	0	0.003080	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551733	24551733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:24551733C>T	uc011djo.2	-	19	3469	c.2969G>A	c.(2968-2970)aGg>aAg	p.R990K	KIAA0319_uc011djp.2_Missense_Mutation_p.R945K|KIAA0319_uc003neh.1_Missense_Mutation_p.R990K|KIAA0319_uc011djq.1_Missense_Mutation_p.R981K|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Missense_Mutation_p.R401K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	990					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTTTTTTTCCTGATTTTAGT	0.398000														37			11		0	0	0.013537	0	0
ENO2	2026	broad.mit.edu	37	12	7026757	7026758	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:7026757_7026758CC>TT	uc001qru.1	+	5	545_546	c.323_324CC>TT	c.(322-324)gcc>gTT	p.A108V	ENO2_uc009zfi.1_Missense_Mutation_p.A108V|ENO2_uc010sfq.1_Missense_Mutation_p.A65V|ENO2_uc001qrv.1_Missense_Mutation_p.A108V	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	108					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAGTTTGGGGCCAATGCCATCC	0.569000														47			19		0	0	0.004672	0	0
COL1A1	1277	broad.mit.edu	37	17	48266284	48266284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:48266284G>A	uc002iqm.3	-	40	3151	c.3025C>T	c.(3025-3027)Cct>Tct	p.P1009S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1009	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GATTCACCAGGGGGTCCAGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							41			31		0	0	0.003271	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774466	101774466	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:101774466C>T	uc003knn.3	-	7	1304	c.1132_splice	c.e7-1	p.I378_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.I378_splice|SLCO6A1_uc003knq.3_Splice_Site_p.I316_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	378						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCATCAGAATCTGaaataaaa	0.279000														14			5		0	0	0.000602	0	0
IGSF1	3547	broad.mit.edu	37	X	130412483	130412483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:130412483C>T	uc004ewe.4	-	11	2291	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	IGSF1_uc004ewd.3_Missense_Mutation_p.E665K|IGSF1_uc022cdv.1_Missense_Mutation_p.E656K|IGSF1_uc004ewf.2_Missense_Mutation_p.E645K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	665	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACAGCCATCTCCTCCCATGAA	0.637000														2			34		0	0	0.003755	0	0
ZNF592	9640	broad.mit.edu	37	15	85326082	85326082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:85326082C>T	uc002bld.3	+	3	512	c.176C>T	c.(175-177)tCa>tTa	p.S59L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	59					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTCAGGATCAGCCCCCGAT	0.542000														35			24		0	0	0.002780	0	0
ZNF101	94039	broad.mit.edu	37	19	19788776	19788777	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:19788776_19788777CC>TT	uc002nni.2	+	1	217_218	c.107_108CC>TT	c.(106-108)acc>aTT	p.T36I	ZNF101_uc010ecg.2_5'UTR|ZNF101_uc002nnj.2_5'UTR	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACGCTGGAAACCTTCAGGAACC	0.495000														31			18		0	0	0.004672	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428803	142428803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142428803C>T	uc011ksk.1	+	1	180	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Nonsense_Mutation_p.R10*					SubName: Full=V_segment translation product; Flags: Fragment;																		GTTCTGGTATCGACAAGACCC	0.423000														12			10		0	0	0.008291	0	0
COLEC10	10584	broad.mit.edu	37	8	120118142	120118142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:120118142G>A	uc003yoo.3	+	5	643	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	182	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGGTGGAATGCTAGCCATGC	0.488000														16			20		0	0	0.014323	0	0
C9orf64	84267	broad.mit.edu	37	9	86554526	86554526	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:86554526T>C	uc004anb.3	-	3	1174	c.926A>G	c.(925-927)aAt>aGt	p.N309S	C9orf64_uc004anc.3_Missense_Mutation_p.N168S	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	309										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAGAATGGAATTGATCTCTCC	0.413000														22			32		0	0	0.008361	0	0
PAK3	5063	broad.mit.edu	37	X	110366492	110366492	+	Missense_Mutation	SNP	G	A	A	rs150741170		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:110366492G>A	uc010npv.1	+	0	188	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PAK3_uc010npt.1_Missense_Mutation_p.G54E|PAK3_uc010npu.1_Missense_Mutation_p.G54E|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.G54E|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.G54E|PAK3_uc004epa.2_Missense_Mutation_p.G54E|AF070581_uc004epb.3_5'Flank	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	54					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.P53T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATCTTCCCAGGAGGAGGGGAT	0.448000										TSP Lung(19;0.15)				1			31		0	0	0.008361	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821580	100821580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:100821580G>A	uc002bvv.1	-	3	722	c.643C>T	c.(643-645)Cct>Tct	p.P215S	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	215					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCCCGCGAAGGCCTGCCCCAC	0.582000														7			8		0	0	0.002450	0	0
ATP10A	57194	broad.mit.edu	37	15	25958939	25958939	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:25958939G>A	uc010ayu.3	-	9	2332	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	742					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F742F(2)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACGGAATCGAAACCCAGTG	0.602000														22			31		0	0	0.009535	0	0
USP37	57695	broad.mit.edu	37	2	219321865	219321865	+	Missense_Mutation	SNP	G	A	A	rs4292082		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:219321865G>A	uc010fvs.1	-	23	3076	c.2663C>T	c.(2662-2664)tCg>tTg	p.S888L	USP37_uc002vie.2_Missense_Mutation_p.S888L|USP37_uc010zkf.1_Missense_Mutation_p.S888L|USP37_uc002vif.2_Missense_Mutation_p.S888L|USP37_uc002vig.2_Missense_Mutation_p.S794L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	888					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GAGCCGGTACGAATGAGGCAG	0.353000														8			12		0	0	0.001855	0	0
PTCH1	5727	broad.mit.edu	37	9	98209210	98209210	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:98209210C>A	uc004avk.4	-	22	4516	c.4328G>T	c.(4327-4329)gGa>gTa	p.G1443V	PTCH1_uc010mrn.3_Missense_Mutation_p.G235V|PTCH1_uc010mro.3_Missense_Mutation_p.G1292V|PTCH1_uc010mrp.3_Missense_Mutation_p.G1292V|PTCH1_uc010mrq.3_Missense_Mutation_p.G1292V|PTCH1_uc004avl.4_Missense_Mutation_p.G1292V|PTCH1_uc004avm.4_Missense_Mutation_p.G1442V|PTCH1_uc010mrr.3_Missense_Mutation_p.G1377V	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1443					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGAGCTGCTTCCCCGGGGCCT	0.612000														43			37		1.00953e-15	1.1217e-15	0.013114	1	0
CNGB3	54714	broad.mit.edu	37	8	87623882	87623882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:87623882C>T	uc003ydx.3	-	13	1644	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	CNGB3_uc010maj.3_Missense_Mutation_p.M394I	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	532					signal transduction|visual perception	integral to membrane	cGMP binding	p.Q531Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGTCATAAATCATCTGTGTAT	0.308000														18			13		0	0	0.001855	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369840	7369840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:7369840G>A	uc002ghc.4	-	2	531	c.281C>T	c.(280-282)tCt>tTt	p.S94F	ZBTB4_uc002ghd.4_Missense_Mutation_p.S94F	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		agaagaggaagaagacgagga	0.617000														10			10		0	0	0.006214	0	0
FLG2	388698	broad.mit.edu	37	1	152326763	152326763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:152326763C>T	uc001ezw.4	-	2	3572	c.3499G>A	c.(3499-3501)Ggc>Agc	p.G1167S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1167	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGTTGGCCACAGCCAGAT	0.488000														43			90		0	0	0.014410	0	0
TAOK2	9344	broad.mit.edu	37	16	29998375	29998375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:29998375C>T	uc010bzm.2	+	14	2838	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P815S|TAOK2_uc002dva.2_Missense_Mutation_p.P928S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P755S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	928					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGACATCCCTCCTGAACCCCC	0.647000														71			53		0	0	0.014410	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420507	55420507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420507G>A	uc001sgp.4	+	1	662	c.284G>A	c.(283-285)aGa>aAa	p.R95K	NEUROD4_uc021qyr.1_Missense_Mutation_p.R95K	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	95					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R95K(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCTAATGCCAGAGAACGGACC	0.498000														20			22		0	0	0.012319	0	0
CDH8	1006	broad.mit.edu	37	16	61935302	61935302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:61935302G>A	uc002eog.2	-	2	1283	c.328C>T	c.(328-330)Caa>Taa	p.Q110*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	110	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATTTATTTGAAATATGGTC	0.418000														2			19		0	0	0.007413	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172183	50172183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50172183C>T	uc002ppa.3	+	3	1260	c.578C>T	c.(577-579)cCg>cTg	p.P193L	BCL2L12_uc002ppb.3_Missense_Mutation_p.P192L	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	193					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGAAATCTCCGCCCAGCCCA	0.577000														27			13		0	0	0.013537	0	0
OR13C4	138804	broad.mit.edu	37	9	107288987	107288987	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:107288987G>A	uc011lvn.2	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTTCCCACAGAAAGGCCATC	0.388000														23			22		0	0	0.012319	0	0
QDPR	5860	broad.mit.edu	37	4	17506007	17506007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:17506007G>A	uc003gpd.3	-	2	470	c.290C>T	c.(289-291)tCc>tTc	p.S97F	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Missense_Mutation_p.S66F	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	97					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CTCACACTTGGATTTGGCATT	0.502000														2			24		0	0	0.004656	0	0
SEC23A	10484	broad.mit.edu	37	14	39543713	39543713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:39543713G>A	uc001wup.1	-	8	1232	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEC23A_uc010tqa.1_Nonsense_Mutation_p.R199*|SEC23A_uc010tqb.1_Nonsense_Mutation_p.R308*|SEC23A_uc010tqc.1_Nonsense_Mutation_p.R199*	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	337					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAGCAGCTCGATTAGCCAAT	0.348000														49			37		0	0	0.004878	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106108821	106108821	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:106108821C>T	uc004emo.3	+	14	2550	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	795						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAATTGAGCCTTCAAGAAT	0.289000														1			17		0	0	0.012319	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052919	33052919	+	Missense_Mutation	SNP	T	G	G	rs61736938		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:33052919T>G	uc003ocu.2	+	2	673	c.557T>G	c.(556-558)gTg>gGg	p.V186G	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Missense_Mutation_p.V82G	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	186	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGATCCTGGTGATGCTGGAA	0.557000														89			21		0	0	0.014323	0	0
SACS	26278	broad.mit.edu	37	13	23909019	23909019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:23909019G>A	uc001uon.2	-	9	9585	c.8996C>T	c.(8995-8997)cCa>cTa	p.P2999L	SACS_uc001uoo.2_Missense_Mutation_p.P2852L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2999					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCAATATTTGGAGCCCGCAC	0.363000														26			50		0	0	0.014410	0	0
HOXA3	3200	broad.mit.edu	37	7	27147736	27147736	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:27147736T>C	uc011jzl.2	-	2	1330	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S	HOXA3_uc003syk.3_Missense_Mutation_p.N377S	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	377					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGCCCGGAGTTGCTCATGGG	0.682000														14			7		0	0	0.003080	0	0
TNC	3371	broad.mit.edu	37	9	117846683	117846683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:117846683C>T	uc004bjj.4	-	3	2348	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TNC_uc010mvf.3_Missense_Mutation_p.E646K|TNC_uc022bmj.1_Missense_Mutation_p.E646K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	646	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCCGCATCTCATTGTCCCAG	0.557000														26			19		0	0	0.007413	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360292	55360292	+	Silent	SNP	G	A	A	rs147515881		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:55360292G>A	uc003pcn.3	-	7	969	c.810C>T	c.(808-810)atC>atT	p.I270I	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.I240I|HMGCLL1_uc010jzx.3_Silent_p.I141I|HMGCLL1_uc011dxc.2_Silent_p.I208I|HMGCLL1_uc011dxd.2_Silent_p.I137I	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	270							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I270I(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACCTGGTGGGATTTCTTTCA	0.433000														34			38		0	0	0.004878	0	0
VEPH1	79674	broad.mit.edu	37	3	157178091	157178091	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:157178091G>A	uc003fbj.2	-	3	827	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VEPH1_uc003fbk.2_Silent_p.F136F|VEPH1_uc010hvu.2_Silent_p.F136F|VEPH1_uc021xgk.1_Silent_p.F136F|VEPH1_uc003fbn.3_Silent_p.F136F|VEPH1_uc003fbm.3_Silent_p.F136F	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	136						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTCTGTGGAGGAATTTCACTG	0.443000														41			23		0	0	0.012319	0	0
METTL6	131965	broad.mit.edu	37	3	15467907	15467907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:15467907C>T	uc003bzs.1	-	1	370	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	METTL6_uc011avp.1_Missense_Mutation_p.E38K|METTL6_uc003bzt.1_Missense_Mutation_p.E38K|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	38							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GCCTCTTGTTCCAATTTCTGC	0.408000														36			29		0	0	0.005443	0	0
QRICH2	84074	broad.mit.edu	37	17	74287678	74287678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:74287678G>A	uc002jrd.1	-	3	2812	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	878							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAAGTTTCTGGTGGTACCAAA	0.502000														44			38		0	0	0.004878	0	0
MYOM2	9172	broad.mit.edu	37	8	2040257	2040257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:2040257G>A	uc003wpx.4	+	15	2050	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	MYOM2_uc011kwi.2_Missense_Mutation_p.E63K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	638	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCTAAGCATGAGGAGGACCT	0.587000														64			48		0	0	0.014410	0	0
SRRM2	23524	broad.mit.edu	37	16	2812404	2812404	+	Silent	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2812404T>C	uc002crk.3	+	10	2424	c.1875T>C	c.(1873-1875)tcT>tcC	p.S625S	SRRM2_uc002crj.1_Silent_p.S529S|SRRM2_uc002crl.1_Silent_p.S625S|SRRM2_uc010bsu.1_Silent_p.S529S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	625	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCGCAGATCTAGGACCCGAT	0.602000														27			23		0	0	0.014323	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599049	136599049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:136599049C>T	uc003qgx.1	-	3	1223	c.970G>A	c.(970-972)Gat>Aat	p.D324N	BCLAF1_uc003qgy.1_Missense_Mutation_p.D322N|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.D322N|BCLAF1_uc003qgw.1_Missense_Mutation_p.D324N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	324					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCCACCATCAGGATAAAAC	0.388000														40			12		0	0	0.003163	0	0
CNGB1	1258	broad.mit.edu	37	16	57931789	57931789	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:57931789G>A	uc002emt.2	-	29	3071	c.3006C>T	c.(3004-3006)atC>atT	p.I1002I	CNGB1_uc010cdh.2_Silent_p.I996I	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1002					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCCTGCCTGGATGATGTACA	0.547000														10			72		0	0	0.014410	0	0
OR52H1	390067	broad.mit.edu	37	11	5565833	5565833	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:5565833G>A	uc010qzh.2	-	0	921	c.921C>T	c.(919-921)atC>atT	p.I307I	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTATCTCTGATCTGCTTGG	0.393000														20			32		0	0	0.010818	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778944	140778944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140778944C>T	uc003lkf.2	+	0	1250	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.T417I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	423	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATGTCACCATCACAGCC	0.498000														23			8		0	0	0.004482	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748773	96748773	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96748773C>T	uc001kka.4	+	8	1486	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CYP2C9_uc009xut.3_Silent_p.F485F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	487					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTGTGCTTCATTCCTGTCT	0.498000														48			46		0	0	0.014410	0	0
USP48	84196	broad.mit.edu	37	1	22078091	22078091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:22078091C>T	uc010odq.2	-	5	921	c.683G>A	c.(682-684)aGa>aAa	p.R228K	USP48_uc001bfb.3_Missense_Mutation_p.R228K|USP48_uc009vqc.3_Missense_Mutation_p.R228K|USP48_uc001bfc.3_Missense_Mutation_p.R228K|USP48_uc001bfe.1_Missense_Mutation_p.R228K|USP48_uc001bff.3_Missense_Mutation_p.R228K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	228					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.G227D(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTTAGACTCTCTGCCACACTG	0.338000														24			20		0	0	0.012319	0	0
SLC38A11	151258	broad.mit.edu	37	2	165765251	165765251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:165765251G>A	uc002ucw.2	-	9	1157	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	SLC38A11_uc002ucu.2_Missense_Mutation_p.L254F|SLC38A11_uc002ucv.2_Missense_Mutation_p.L276F	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	276					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCGATGAAAGATTCCCACCA	0.398000														14			16		0	0	0.004007	0	0
F2RL1	2150	broad.mit.edu	37	5	76129230	76129230	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:76129230C>T	uc003keo.3	+	1	973	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	266					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCTGATGATCAGAATGCTGC	0.493000														221			167		0	0	0.014410	0	0
SYT16	83851	broad.mit.edu	37	14	62547599	62547599	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:62547599C>T	uc001xfu.1	+	3	1238	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	SYT16_uc010tsd.1_Missense_Mutation_p.P377L|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	347										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCTCAGAGCCCATCTCAAAGT	0.498000														11			4		0	0	0.009096	0	0
BDKRB2	624	broad.mit.edu	37	14	96703490	96703490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:96703490G>A	uc010avm.1	+	1	242	c.46G>A	c.(46-48)Gac>Aac	p.D16N	BDKRB2_uc010avl.2_Silent_p.R75R|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Missense_Mutation_p.D16N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	16					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGTTCGTGAGGACTCCGTGCC	0.527000														30			27		0	0	0.006320	0	0
TF	7018	broad.mit.edu	37	3	133478078	133478078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:133478078G>A	uc003epu.2	+	13	2836	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	TF_uc011blt.2_Missense_Mutation_p.E243K|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.E370K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	370	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGCCACCACGAGAGGCTCAA	0.498000														41			35		0	0	0.004289	0	0
BTBD16	118663	broad.mit.edu	37	10	124050683	124050683	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:124050683C>T	uc001lgc.1	+	6	815	c.564C>T	c.(562-564)atC>atT	p.I188I	BTBD16_uc001lgd.1_Silent_p.I187I	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	188	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCGCCCACATCCTCCAGTTCA	0.577000														44			39		0	0	0.006999	0	0
NPY1R	4886	broad.mit.edu	37	4	164247459	164247459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:164247459G>A	uc003iqm.2	-	1	713	c.248C>T	c.(247-249)tCc>tTc	p.S83F	NPY1R_uc021xtv.1_Missense_Mutation_p.S83F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	83					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCTGAGAAGGAAAGGTTCAC	0.418000														14			15		0	0	0.003163	0	0
PLCB3	5331	broad.mit.edu	37	11	64026180	64026180	+	Silent	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:64026180G>T	uc009ypi.3	+	10	1375	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	PLCB3_uc009ypg.2_Silent_p.V416V|PLCB3_uc009yph.2_Silent_p.V349V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	416	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAACCATGTGGACTCGTGAG	0.612000														33			27		1.39806e-14	1.54934e-14	0.008361	1	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:164764781G>A	uc003fei.3	-	15	1798	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)				11			5		0	0	0.000602	0	0
SVEP1	79987	broad.mit.edu	37	9	113221378	113221378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:113221378C>T	uc010mtz.3	-	18	3675	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SVEP1_uc010mua.1_Missense_Mutation_p.G1113E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1113					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGAGAATTTTCCTTCTGGACA	0.423000														42			28		0	0	0.009535	0	0
MUC17	140453	broad.mit.edu	37	7	100678247	100678247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:100678247C>T	uc003uxp.1	+	2	3603	c.3550C>T	c.(3550-3552)Cct>Tct	p.P1184S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1184	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGTGGACTC	0.527000														179			74		0	0	0.014410	0	0
MYLK	4638	broad.mit.edu	37	3	123419471	123419471	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:123419471G>A	uc003ego.3	-	17	3126	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P	MYLK_uc011bjw.2_Silent_p.P948P|MYLK_uc003egp.3_Silent_p.P879P|MYLK_uc003egq.3_Silent_p.P948P|MYLK_uc003egr.3_Silent_p.P879P|MYLK_uc003egs.3_Silent_p.P772P|MYLK_uc003egt.3_Silent_p.P139P	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	948	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGACCTGCTGGGGGCTGTGCA	0.587000														15			21		0	0	0.012319	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863655	64863655	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:64863655G>A	uc021viq.1	-	0	351	c.351C>T	c.(349-351)ccC>ccT	p.P117P	SERTAD2_uc002sde.2_Silent_p.P117P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	117					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CGAGGTCGCAGGGGTGGGAGG	0.697000														21			12		0	0	0.003163	0	0
EVPLL	645027	broad.mit.edu	37	17	18284834	18284834	+	Splice_Site	SNP	G	A	A	rs112860829	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18284834G>A	uc002gte.3	+	3	473	c.218_splice	c.e3+1	p.D73_splice		NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN	Homo sapiens envoplakin-like (EVPLL), mRNA.	73										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GACTGAGAAGGAGTGAGTGGG	0.667000														19			10		0	0	0.001855	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161253	185161253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:185161253C>T	uc010hyf.3	+	4	971	c.680C>T	c.(679-681)cCa>cTa	p.P227L	MAP3K13_uc011brt.2_Missense_Mutation_p.P20L|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Missense_Mutation_p.P83L|MAP3K13_uc003fpi.3_Missense_Mutation_p.P227L|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	227	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACTCAGGCCCCATGTTATTGT	0.378000														27			13		0	0	0.001855	0	0
ATP10B	23120	broad.mit.edu	37	5	160039922	160039922	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:160039922C>T	uc003lym.1	-	17	3511	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G	ATP10B_uc010jit.1_Silent_p.G205G|ATP10B_uc003lyn.3_Silent_p.G446G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	888					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTCGATCCCAGTGGCTC	0.507000														8			6		0	0	0.001168	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956396	128956396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:128956396C>T	uc003kvb.1	+	8	1546	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	516	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGACAGAATCTTGGTGACGT	0.403000														36			30		0	0	0.010818	0	0
OR8G1	26494	broad.mit.edu	37	11	124120520	124120520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:124120520G>A	uc001pzx.3	+	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CTGTTCTTAGGAATCTATGTG	0.512000														32			18		0	0	0.007413	0	0
ZFP64	55734	broad.mit.edu	37	20	50701144	50701144	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:50701144G>A	uc002xwk.3	-	8	2239	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	ZFP64_uc002xwj.3_Silent_p.V411V	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCCACGGAGACCAGGGTGC	0.602000														22			21		0	0	0.003330	0	0
MLL3	58508	broad.mit.edu	37	7	152012382	152012382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:152012382G>A	uc003wla.3	-	3	650	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	144					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTCCTAAGGAACTTTTTTC	0.378000			N		medulloblastoma									26			18		0	0	0.007413	0	0
SLC10A5	347051	broad.mit.edu	37	8	82605900	82605900	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:82605900G>A	uc011lfs.2	-	0	1308	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	436						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTTAGATTAGGAAATTTCTTT	0.338000														13			6		0	0	0.001168	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127586	226127586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:226127586C>T	uc001hpt.2	-	1	610	c.367G>A	c.(367-369)Gag>Aag	p.E123K	LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	123					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGACCGGCTCCTGGAAGAGC	0.746000														3			10		0	0	0.006214	0	0
KIF26B	55083	broad.mit.edu	37	1	245704168	245704168	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:245704168G>A	uc001ibf.1	+	4	1706	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	KIF26B_uc010pyq.1_Silent_p.G422G|KIF26B_uc001ibg.1_Silent_p.G40G	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	422					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTTCAGTGGGATTCTGCAGA	0.587000														87			28		0	0	0.007291	0	0
RAF1	5894	broad.mit.edu	37	3	12650363	12650363	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:12650363A>T	uc003bxf.4	-	4	898	c.483T>A	c.(481-483)aaT>aaA	p.N161K	RAF1_uc011aut.2_5'UTR|RAF1_uc011auu.2_Missense_Mutation_p.N79K	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	161					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCGAAATCCATTGAGCAGGA	0.418000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					20			15		0	0	0.004007	0	0
ZNF438	220929	broad.mit.edu	37	10	31137977	31137977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:31137977G>A	uc010qdz.2	-	6	1792	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	ZNF438_uc001ivn.3_Missense_Mutation_p.P404S|ZNF438_uc010qdy.2_Missense_Mutation_p.P443S|ZNF438_uc001ivo.4_Missense_Mutation_p.P17S|ZNF438_uc009xlg.3_Missense_Mutation_p.P453S|ZNF438_uc001ivp.4_Missense_Mutation_p.P443S|ZNF438_uc010qea.2_Missense_Mutation_p.P453S|ZNF438_uc010qeb.2_Missense_Mutation_p.P453S|ZNF438_uc010qec.1_Missense_Mutation_p.P17S	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGTGTAGTTGGAGAAGCCAGG	0.458000														35			20		0	0	0.008871	0	0
ADCY10	55811	broad.mit.edu	37	1	167871000	167871000	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167871000C>T	uc001ger.3	-	4	634	c.336G>A	c.(334-336)ctG>ctA	p.L112L	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Silent_p.L20L|ADCY10_uc009wvl.3_Silent_p.L111L|ADCY10_uc009wvm.2_Intron	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	112	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAATGTTTTTCAGCTGCTTTC	0.498000														150			36		0	0	0.005524	0	0
ATP2B2	491	broad.mit.edu	37	3	10379942	10379942	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:10379942A>C	uc003bvt.3	-	21	3777	c.3338T>G	c.(3337-3339)gTg>gGg	p.V1113G	ATP2B2_uc003bvv.3_Missense_Mutation_p.V1068G|ATP2B2_uc003bvw.3_Missense_Mutation_p.V1068G|ATP2B2_uc003bvs.3_5'Flank|ATP2B2_uc010hdo.3_Missense_Mutation_p.V818G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1113					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATCTCCTCCACGTCCTCGTT	0.632000														23			18		0	0	0.008871	0	0
CLDN2	9075	broad.mit.edu	37	X	106171614	106171614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:106171614G>A	uc022ccd.1	+	0	156	c.156G>A	c.(154-156)atG>atA	p.M52I	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.M52I|CLDN2_uc022ccc.1_Missense_Mutation_p.M52I|CLDN2_uc004emt.2_Missense_Mutation_p.M52I	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	52					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCTCTGGATGGAATGTGCCA	0.572000														3			36		0	0	0.005524	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997240	146997240	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:146997240G>A	uc003weu.2	+	8	1872	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	452	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G452A(1)		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)			CAGGTTCTGGGTTGAATGATG	0.368000										HNSCC(39;0.1)				28			21		0	0	0.014323	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351926	42351926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42351926G>A	uc010xwe.2	+	2	430	c.347G>A	c.(346-348)gGa>gAa	p.G116E	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.G116E	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	116					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.G116V(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTCAGAAAGGGAACCACTCAG	0.597000														2			7		0	0	0.001984	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219003	42219003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42219003G>A	uc002orl.3	+	2	659	c.538G>A	c.(538-540)Gta>Ata	p.V180I	CEACAM5_uc010ehz.1_Missense_Mutation_p.V180I|CEACAM5_uc002orj.1_Missense_Mutation_p.V180I	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	180	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCTGTGGTGGGTAAACAATCA	0.542000														69			36		0	0	0.014410	0	0
LRP6	4040	broad.mit.edu	37	12	12318150	12318150	+	Missense_Mutation	SNP	C	T	T	rs139800650		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:12318150C>T	uc001rah.4	-	7	1767	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G542D	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	542	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATAGTCACCCAACAAAGT	0.423000														217			161		0	0	0.014410	0	0
CREB3L2	64764	broad.mit.edu	37	7	137600734	137600734	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:137600734T>C	uc003vtw.3	-	2	740	c.344A>G	c.(343-345)tAc>tGc	p.Y115C	CREB3L2_uc003vtx.2_Missense_Mutation_p.Y115C|CREB3L2_uc003vty.4_Missense_Mutation_p.Y115C|CREB3L2_uc003vtv.3_Missense_Mutation_p.Y52C	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	115					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGTAGACAGGTACCATTTCTC	0.493000			T	FUS	fibromyxoid sarcoma									14			13		0	0	0.004007	0	0
TRIM59	286827	broad.mit.edu	37	3	160156874	160156874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:160156874C>T	uc003fdm.3	-	2	293	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.C33Y	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	33						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTTTCCAAACAATTTCTACA	0.353000														21			19		0	0	0.006122	0	0
CILP2	148113	broad.mit.edu	37	19	19655606	19655606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:19655606C>T	uc002nmw.4	+	7	2355	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	CILP2_uc002nmv.4_Missense_Mutation_p.P751L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	751						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AAGTTCACCCCCAGCGAGCAG	0.687000														16			7		0	0	0.001984	0	0
OC90	729330	broad.mit.edu	37	8	133044159	133044159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:133044159C>T	uc003ytg.2	-	10	1000	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	OC90_uc011lix.1_Missense_Mutation_p.G334R	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	350	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.G334S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCGCCTCTTCCTTCTTGTCCA	0.542000														23			26		0	0	0.005443	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756848	94756848	+	Missense_Mutation	SNP	G	A	A	rs2232697		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:94756848G>A	uc001yct.3	-	1	549	c.83C>T	c.(82-84)tCg>tTg	p.S28L	SERPINA10_uc001ycu.4_Missense_Mutation_p.S28L	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	28					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S28L(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTCTCTGGCGACTGAGGACT	0.642000														11			7		0	0	0.001984	0	0
LDB3	11155	broad.mit.edu	37	10	88478537	88478537	+	Silent	SNP	G	A	A	rs150710377	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:88478537G>A	uc001kdv.3	+	10	1934	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	LDB3_uc010qmm.2_Silent_p.A642A|LDB3_uc009xsz.3_Silent_p.A266A|LDB3_uc001kdu.3_Silent_p.A527A|LDB3_uc009xta.2_Silent_p.A16A	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	637	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCGTCTGTGCGGCCTGCAAGA	0.572000														37			45		0	0	0.014410	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525073	150525074	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:150525073_150525074GG>AA	uc009wlw.3	+	2	233_234	c.75_76GG>AA	c.(73-78)caggag>caAAag	p.E26K	ADAMTSL4_uc001euw.3_Missense_Mutation_p.E26K|ADAMTSL4_uc001eux.3_Missense_Mutation_p.E26K|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.E26K	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	26					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTTGGATCAGGAGGTGAGTTC	0.624000														7			33		0	0	0.004672	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969019	49969019	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:49969019C>T	uc002pnt.3	+	12	1709	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ALDH16A1_uc010yar.2_Silent_p.F480F|ALDH16A1_uc010yas.2_Silent_p.F366F|ALDH16A1_uc010yat.2_Silent_p.F368F	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	531							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGGGCTCTTCGTTGGGGGCC	0.642000														36			26		0	0	0.006320	0	0
FBLN5	10516	broad.mit.edu	37	14	92403366	92403366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92403366G>A	uc010aue.3	-	4	900	c.427C>T	c.(427-429)Cca>Tca	p.P143S	FBLN5_uc010aud.3_Missense_Mutation_p.P107S|FBLN5_uc001xzx.4_Missense_Mutation_p.P102S	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	102	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGATAGTTTGGAGCTGAGAGT	0.562000														26			30		0	0	0.013726	0	0
PHF2	5253	broad.mit.edu	37	9	96435917	96435917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:96435917C>T	uc004aub.3	+	17	2546	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	PHF2_uc011lug.1_Missense_Mutation_p.S683F|PHF2_uc004auc.3_Missense_Mutation_p.S220F	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	800					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGAATGCTGTCCATGGCCAAC	0.667000														21			21		0	0	0.010504	0	0
RPS3A	6189	broad.mit.edu	37	4	152025418	152025418	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:152025418T>C	uc003ilz.3	+	4	704	c.653T>C	c.(652-654)cTg>cCg	p.L218P		NM_001006	NP_000997	P61247	RS3A_HUMAN	Homo sapiens ribosomal protein S3A (RPS3A), mRNA.	218					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GTAAAAATGCTGAAGAAGCCC	0.418000														14			6		0	0	0.001168	0	0
USP19	10869	broad.mit.edu	37	3	49148967	49148967	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:49148967G>A	uc003cwd.2	-	19	3193	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S	USP19_uc003cwa.3_Silent_p.S766S|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.S1061S|USP19_uc011bcg.2_Silent_p.S1049S|USP19_uc003cwc.2_Silent_p.S716S|USP19_uc011bch.2_Silent_p.S1059S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	958					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTGGCAAGGAGCCAACCT	0.622000														3			17		0	0	0.010504	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677522	37677522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:37677522G>A	uc002ofq.3	-	4	1169	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZNF585B_uc002ofr.1_Missense_Mutation_p.S120F	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAATGAAGGATTTGCCACA	0.408000														57			46		0	0	0.014410	0	0
CMTM5	116173	broad.mit.edu	37	14	23847703	23847703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23847703C>T	uc010akm.3	+	1	716	c.272C>T	c.(271-273)cCc>cTc	p.P91L	CMTM5_uc010akn.3_Missense_Mutation_p.P53L|CMTM5_uc001wju.3_Intron|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Missense_Mutation_p.P91L|CMTM5_uc001wjt.3_Missense_Mutation_p.P91L	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	91	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ATTAACTGGCCCTGTCTGGTG	0.552000														46			45		0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508700	24508700	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:24508700C>T	uc001iru.4	+	1	619	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Silent_p.P72P|KIAA1217_uc010qcy.2_Silent_p.P72P|KIAA1217_uc010qcz.2_Silent_p.P72P	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	72					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGGGGGGCCCCGAAGTTCCA	0.512000														32			16		0	0	0.004990	0	0
FLNC	2318	broad.mit.edu	37	7	128487761	128487761	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:128487761C>T	uc003vnz.4	+	24	4508	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	FLNC_uc003voa.4_Silent_p.F1433F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1433					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGAGCCCGTTCCGCGTGCCAG	0.657000														24			21		0	0	0.012319	0	0
ME1	4199	broad.mit.edu	37	6	83947538	83947538	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:83947538C>T	uc003pjy.3	-	8	1189	c.924G>A	c.(922-924)ggG>ggA	p.G308G	ME1_uc011dzb.2_Silent_p.G233G|ME1_uc011dzc.2_Silent_p.G142G	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	308					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GGTGTGCAATCCCTAGGGCAG	0.358000														2			9		0	0	0.004482	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220535	118220535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:118220535C>T	uc001lcl.4	+	5	724	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	208					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGCTAGACCCCTCGGATGCC	0.443000														22			25		0	0	0.003330	0	0
F7	2155	broad.mit.edu	37	13	113773050	113773050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:113773050G>A	uc001vsv.3	+	8	1180	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	F7_uc001vsw.3_Missense_Mutation_p.V355M|F7_uc010tjt.2_Missense_Mutation_p.V308M	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	377	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCACGGAAGGTGGGAGACTC	0.642000														14			17		0	0	0.007413	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:100211914G>A	uc001pga.3	+	22	3511	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_uc021qpb.1_Missense_Mutation_p.E1003K|CNTN5_uc021qpc.1_Missense_Mutation_p.E929K|CNTN5_uc010ruk.2_Missense_Mutation_p.E274K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433000														49			33		0	0	0.003271	0	0
TACC2	10579	broad.mit.edu	37	10	123845510	123845510	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:123845510C>T	uc001lfv.3	+	3	3855	c.3495C>T	c.(3493-3495)tgC>tgT	p.C1165C	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.C1165C|TACC2_uc010qtv.2_Silent_p.C1165C	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1165						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGAGCACTGCCTTACCTCCG	0.612000														8			10		0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45861607	45861607	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:45861607C>T	uc010gpt.1	+	32	4669	c.4569C>T	c.(4567-4569)atC>atT	p.I1523I	TRPM2_uc002zet.1_Silent_p.I1473I|TRPM2_uc002zeu.1_Silent_p.I1473I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1473I|TRPM2_uc002zex.1_Silent_p.I1259I|TRPM2_uc002zey.1_Silent_p.I952I|TRPM2_uc011aff.1_Silent_p.I154I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1473						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCCTCCATCCGATGGCAGG	0.652000														18			16		0	0	0.006122	0	0
ARAP3	64411	broad.mit.edu	37	5	141041668	141041668	+	Silent	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:141041668A>C	uc003llm.3	-	19	3033	c.2955T>G	c.(2953-2955)cgT>cgG	p.R985R	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Silent_p.R647R|ARAP3_uc003lln.3_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	985	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CATCGAGCTCACGAAAGAAGC	0.592000														41			32		0	0	0.012213	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018297	161018297	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:161018297C>T	uc001fxl.3	-	11	2860	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Silent_p.R684R|ARHGAP30_uc009wtx.3_Silent_p.R511R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	838	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R838L(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCACTCTCCCGTTCCTTGC	0.562000														123			34		0	0	0.003755	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184935	167184935	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:167184935T>C	uc003fes.1	-	2	487	c.416A>G	c.(415-417)gAa>gGa	p.E139G	SERPINI2_uc003fer.1_Missense_Mutation_p.E129G|SERPINI2_uc003fet.1_Missense_Mutation_p.E129G	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	129					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTGAAAAAATTCCTTGTTGCC	0.368000														22			18		0	0	0.008871	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42398370	42398370	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42398370C>T	uc002orx.3	+	8	844	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ARHGEF1_uc002orw.1_Silent_p.F245F|ARHGEF1_uc002ory.3_Silent_p.F212F|ARHGEF1_uc002orz.3_Silent_p.F83F|ARHGEF1_uc002osa.3_Silent_p.F260F|ARHGEF1_uc002osb.3_Silent_p.F227F|ARHGEF1_uc002osc.3_5'Flank|ARHGEF1_uc002osd.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	245					Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGAACTTCTTCCGGAAAAAGG	0.577000														15			11		0	0	0.001855	0	0
P2RY10	27334	broad.mit.edu	37	X	78216809	78216809	+	Silent	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:78216809T>A	uc022bzl.1	+	0	792	c.792T>A	c.(790-792)atT>atA	p.I264I	P2RY10_uc004ede.3_Silent_p.I264I|P2RY10_uc004edf.3_Silent_p.I264I	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	264						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I264M(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTAACTTTATTTTTTACACCA	0.453000														1			53		0	0	0.014410	0	0
SELPLG	6404	broad.mit.edu	37	12	109017612	109017612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:109017612C>T	uc010sxe.2	-	1	697	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	SELPLG_uc001tni.3_Missense_Mutation_p.A158T|SELPLG_uc021rdm.1_Missense_Mutation_p.A148T|SELPLG_uc001tnh.3_Missense_Mutation_p.A148T	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	158	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCCTCCGTGGCCGTCAGTCGA	0.637000														32			23		0	0	0.003954	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:100235037C>T	uc003hus.4	-	5	853	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_uc003hut.4_Missense_Mutation_p.E217K|ADH1B_uc011ceh.2_Missense_Mutation_p.E102K|ADH1B_uc011cei.1_Missense_Mutation_p.E217K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000														105			118		0	0	0.014410	0	0
ZNF208	7757	broad.mit.edu	37	19	22155343	22155343	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:22155343C>T	uc021urr.1	-	3	2642	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.V831L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGCTTTTCTCCAG	0.373000														22			17		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9087679	9087679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:9087679G>A	uc002mkp.3	-	0	4340	c.4136C>T	c.(4135-4137)cCg>cTg	p.P1379L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1379	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTGTGGCCGGACTGGTGAG	0.453000														32			46		0	0	0.014410	0	0
MMD2	221938	broad.mit.edu	37	7	4947073	4947073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:4947073C>T	uc003sno.4	-	6	963	c.767G>A	c.(766-768)aGg>aAg	p.R256K	MMD2_uc003snl.1_Splice_Site|MMD2_uc003snn.4_Missense_Mutation_p.R232K|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	256						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATAGAGGTACCTCCAGATGGC	0.532000														38			28		0	0	0.007291	0	0
COL5A3	50509	broad.mit.edu	37	19	10104324	10104324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:10104324G>A	uc002mmq.1	-	17	1752	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	556	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCAGCCCAGGGAGGCCATCG	0.592000														27			15		0	0	0.002450	0	0
DUSP27	92235	broad.mit.edu	37	1	167095395	167095395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167095395G>A	uc001geb.1	+	4	1043	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	343					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CACCCTCATAGACGAGGAGGA	0.657000														17			5		0	0	0.001168	0	0
RABL2A	11159	broad.mit.edu	37	2	114391763	114391763	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:114391763C>T	uc002tks.4	+	4	312	c.171C>T	c.(169-171)acC>acT	p.T57T	RABL2A_uc002tkn.4_Silent_p.T57T|RABL2A_uc010flb.3_Silent_p.T57T|RABL2A_uc002tkm.4_Silent_p.T57T|RABL2A_uc002tkr.3_Silent_p.T57T|RABL2A_uc002tkp.4_Silent_p.T57T	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	57					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						ACGCCCTGACCCTGTACAAGC	0.547000														8			4		0	0	0.000602	0	0
PLEK	5341	broad.mit.edu	37	2	68621305	68621305	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:68621305A>T	uc002sen.4	+	7	1075	c.913A>T	c.(913-915)Aat>Tat	p.N305Y	PLEK_uc010fde.3_3'UTR	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	305	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.S304L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGCAACTCAAATGGTAAGAT	0.458000														45			30		0	0	0.004289	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095071	16095071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:16095071G>A	uc001axd.1	+	5	930	c.487G>A	c.(487-489)Gag>Aag	p.E163K	FBLIM1_uc001axe.1_Missense_Mutation_p.E163K|FBLIM1_uc001axg.1_Missense_Mutation_p.E163K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	163	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGGCCCATGGAGGAAGAGCT	0.657000														26			12		0	0	0.003163	0	0
ADAM7	8756	broad.mit.edu	37	8	24346766	24346766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24346766C>T	uc003xeb.3	+	11	1299	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	ADAM7_uc003xec.3_Missense_Mutation_p.P168S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	396					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATTCCATTTCCTTACAATTT	0.403000														13			14		0	0	0.003163	0	0
MECOM	2122	broad.mit.edu	37	3	168834174	168834174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:168834174G>A	uc011bpj.1	-	7	1889	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	MECOM_uc010hwk.1_Missense_Mutation_p.P331S|MECOM_uc003ffj.3_Missense_Mutation_p.P373S|MECOM_uc003ffi.3_Missense_Mutation_p.P308S|MECOM_uc011bpi.1_Missense_Mutation_p.P309S|MECOM_uc003ffn.3_Missense_Mutation_p.P308S|MECOM_uc003ffk.2_Missense_Mutation_p.P308S|MECOM_uc003ffl.2_Missense_Mutation_p.P468S|MECOM_uc011bpk.1_Missense_Mutation_p.P308S|MECOM_uc010hwn.2_Missense_Mutation_p.P496S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGCCGGAAGGAAACAGACCA	0.478000														26			18		0	0	0.007413	0	0
KCNH5	27133	broad.mit.edu	37	14	63316501	63316501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:63316501C>T	uc001xfx.3	-	7	1490	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	KCNH5_uc001xfy.3_Missense_Mutation_p.R480Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R422Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	480					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCATGGTATCGGTTGGTGTT	0.368000														21			20		0	0	0.008871	0	0
SNX33	257364	broad.mit.edu	37	15	75941913	75941913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:75941913C>T	uc002bau.3	+	0	566	c.470C>T	c.(469-471)gCc>gTc	p.A157V	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	157					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CAGCACATGGCCTTCCGGCCC	0.652000														20			9		0	0	0.008291	0	0
GRID2	2895	broad.mit.edu	37	4	94411873	94411873	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:94411873T>C	uc011cdt.2	+	11	2200	c.1942T>C	c.(1942-1944)Tac>Cac	p.Y648H	GRID2_uc011cdu.2_Missense_Mutation_p.Y553H	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	648					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TATCTCATCTTACACGGCAAA	0.438000														29			40		0	0	0.006999	0	0
WDR72	256764	broad.mit.edu	37	15	54007449	54007449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:54007449G>A	uc002acj.2	-	4	497	c.455C>T	c.(454-456)tCa>tTa	p.S152L	WDR72_uc010bfi.1_Missense_Mutation_p.S152L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	152										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAACTGAGATGATCTAAAACT	0.393000														21			10		0	0	0.006214	0	0
EXPH5	23086	broad.mit.edu	37	11	108409812	108409812	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:108409812G>A	uc001pkk.3	-	2	493	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	128					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGAGAACAGGGAAGCAAAT	0.408000														36			43		0	0	0.013114	0	0
ABI2	10152	broad.mit.edu	37	2	204231698	204231698	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:204231698C>T	uc002vaa.3	+	1	451	c.216C>T	c.(214-216)gtC>gtT	p.V72V	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_5'UTR|ABI2_uc002uzz.3_Silent_p.V72V|ABI2_uc010zih.2_5'UTR|ABI2_uc010zii.2_Silent_p.V72V|TRNA_Pseudo_uc021vvk.1_5'Flank|ABI2_uc002vab.3_Missense_Mutation_p.S2F	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	72	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAACAATGTCCTGCAGATGC	0.438000														6			10		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	2	89231921	89231921	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:89231921C>T	uc021vkt.1	-	140		c.8891_splice	c.e140-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		CTGAGGAGTCCTGATCAGTCA	0.532000														14			17		0	0	0.004990	0	0
MYO3B	140469	broad.mit.edu	37	2	171073890	171073890	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:171073890C>T	uc002ufy.3	+	5	731	c.588C>T	c.(586-588)ttC>ttT	p.F196F	MYO3B_uc002ufv.3_Silent_p.F183F|MYO3B_uc010fqb.1_Silent_p.F196F|MYO3B_uc002ufz.3_Silent_p.F196F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Silent_p.F183F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	196	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCACCCCGTTCTGGATGGCCC	0.443000														80			54		0	0	0.014410	0	0
SPOCK1	6695	broad.mit.edu	37	5	136328173	136328173	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:136328173T>C	uc003lbo.3	-	6	897	c.706_splice	c.e6+1	p.R236_splice	SPOCK1_uc003lbp.3_Splice_Site_p.R236_splice	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	236					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGTCTTACTGCCTTGGGCT	0.438000														34			28		0	0	0.012213	0	0
FAM124A	220108	broad.mit.edu	37	13	51826083	51826083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:51826083C>T	uc001vff.2	+	3	856	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	FAM124A_uc001vfe.3_Missense_Mutation_p.L194F|FAM124A_uc001vfg.2_Missense_Mutation_p.L194F	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	194										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCAGCTGATTCTCCGGAGGAG	0.552000														24			25		0	0	0.005443	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727586	20727586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:20727586G>A	uc002npa.3	-	3	1603	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	475					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.408000														6			4		0	0	0.009096	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420404	55420404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420404G>A	uc001sgp.4	+	1	559	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	NEUROD4_uc021qyr.1_Missense_Mutation_p.E61K	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	61	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						agaagaagaggaagaagaTGG	0.473000														8			3		0	0	0.009096	0	0
ITGA10	8515	broad.mit.edu	37	1	145533060	145533060	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:145533060G>A	uc001eoa.3	+	10	1231	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	ITGA10_uc010oyv.2_Silent_p.G254G|ITGA10_uc009wiw.3_Silent_p.G242G|ITGA10_uc010oyw.2_Silent_p.G330G	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	385					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACAGGATGGGATTCTTTTTG	0.532000														84			25		0	0	0.005443	0	0
DRD3	1814	broad.mit.edu	37	3	113878691	113878691	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:113878691G>A	uc003ebd.2	-	3	717	c.294C>T	c.(292-294)ttC>ttT	p.F98F	DRD3_uc010hqn.1_Silent_p.F98F|DRD3_uc003ebb.1_Silent_p.F98F|DRD3_uc003ebc.1_Silent_p.F98F	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	98					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAATGCGGCTGAAATTCCAGA	0.483000														36			28		0	0	0.008361	0	0
WDR3	10885	broad.mit.edu	37	1	118483757	118483757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:118483757C>T	uc010oxe.1	+	7	866	c.800C>T	c.(799-801)tCa>tTa	p.S267L	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.S96L	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	267						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CGAATCCTTTCATGCAGAAAA	0.418000														19			20		0	0	0.014323	0	0
ARMC4	55130	broad.mit.edu	37	10	28151543	28151544	+	Missense_Mutation	DNP	CC	TT	TT	rs151193419		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:28151543_28151544CC>TT	uc009xky.3	-	17	2716_2717	c.2618_2619GG>AA	c.(2617-2619)ggg>gAA	p.G873E	ARMC4_uc010qds.2_Missense_Mutation_p.G398E|ARMC4_uc010qdt.2_Missense_Mutation_p.G565E|ARMC4_uc001itz.3_Missense_Mutation_p.G873E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	873							binding	p.G873A(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAACCATTTCCCCAGCATCCTA	0.361000														6			7		0	0	0.004672	0	0
OR1B1	347169	broad.mit.edu	37	9	125391016	125391016	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:125391016G>T	uc011lyz.2	-	0	799	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AAGGGAGGCTGGAAGTAGACA	0.517000														14			25		2.39556e-15	2.65826e-15	0.002780	1	0
CSMD2	114784	broad.mit.edu	37	1	34286079	34286079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34286079G>A	uc001bxm.1	-	7	1367	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	CSMD2_uc001bxn.1_Missense_Mutation_p.S357L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	357	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGAAATCCGAGCCTAGTCT	0.488000														62			57		0	0	0.014410	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751729	73751729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:73751729G>A	uc011dyh.2	+	2	907	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	KCNQ5_uc003pgj.4_Missense_Mutation_p.R187Q|KCNQ5_uc011dyi.2_Missense_Mutation_p.R187Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R187Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R187Q|KCNQ5_uc011dyj.2_Missense_Mutation_p.R187Q|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	187					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGCTGTTGTCGATATAGAGGA	0.428000														6			48		0	0	0.014410	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569244	140569244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140569244G>A	uc003liw.1	+	1	2350	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	785					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAATAGAGGAAAATTCTAC	0.428000														45			33		0	0	0.003755	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215010	140215010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140215010C>T	uc003lhq.2	+	0	1042	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.P348S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	363	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCTCCACAGTTGAC	0.498000														41			38		0	0	0.004878	0	0
RABEPK	10244	broad.mit.edu	37	9	127996026	127996026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:127996026C>T	uc004bpi.3	+	8	1055	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	RABEPK_uc004bpj.3_Missense_Mutation_p.H245Y|RABEPK_uc004bpk.3_Missense_Mutation_p.H296Y	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	296					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACGATTGGACCATTCCATGTG	0.448000														69			38		0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179448448	179448448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179448448C>T	uc021vsy.1	-	260	57982	c.57757G>A	c.(57757-57759)Gct>Act	p.A19253T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A12948T|TTN_uc021vta.1_Missense_Mutation_p.A12881T|TTN_uc021vtb.1_Missense_Mutation_p.A12756T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20180	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCAGTAGCTGTGTACTCT	0.448000														7			8		0	0	0.003080	0	0
CBR3	874	broad.mit.edu	37	21	37518652	37518652	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:37518652T>G	uc002yve.3	+	2	904	c.676T>G	c.(676-678)Tgc>Ggc	p.C226G	CBR3-AS1_uc002yvc.2_Splice_Site|CBR3-AS1_uc002yvd.2_Splice_Site|CBR3-AS1_uc002yvf.2_Splice_Site	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	226						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						GGTGAATGCGTGCTGCCCAGG	0.572000														43			32		0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179590751	179590751	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179590751G>A	uc021vsy.1	-	66	16791	c.16566C>T	c.(16564-16566)ttC>ttT	p.F5522F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2183F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6449	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATAGGAGGGAAGCTGCTAA	0.378000														31			19		0	0	0.010504	0	0
PDE1A	5136	broad.mit.edu	37	2	183104852	183104852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:183104852C>T	uc002uos.3	-	3	467	c.383G>A	c.(382-384)gGa>gAa	p.G128E	PDE1A_uc010zfp.1_Missense_Mutation_p.G24E|PDE1A_uc002uoq.1_Missense_Mutation_p.G128E|PDE1A_uc010zfq.1_Missense_Mutation_p.G128E|PDE1A_uc002uor.3_Missense_Mutation_p.G112E|PDE1A_uc002uou.3_Missense_Mutation_p.G94E	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACAAAAATTCCAGCTTGAAC	0.388000														49			24		0	0	0.003954	0	0
C15orf2	23742	broad.mit.edu	37	15	24924372	24924372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:24924372C>T	uc001ywo.3	+	0	3832	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1120					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCTGCTTTTCAACAGTGCAT	0.468000														46			40		0	0	0.007835	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203839170	203839170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:203839170C>T	uc002uzo.2	+	11	1725	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.S406F|ALS2CR8_uc010zib.1_Missense_Mutation_p.S406F|ALS2CR8_uc010zic.1_Missense_Mutation_p.S394F|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S482F	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	482										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GTACAGAAATCCTTGAGAAAT	0.343000														121			91		0	0	0.014410	0	0
GALNT14	79623	broad.mit.edu	37	2	31189136	31189136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:31189136G>A	uc002rns.3	-	3	987	c.347C>T	c.(346-348)cCa>cTa	p.P116L	GALNT14_uc002rnq.3_Missense_Mutation_p.P91L|GALNT14_uc010ymr.2_Missense_Mutation_p.P76L|GALNT14_uc002rnr.3_Missense_Mutation_p.P111L|GALNT14_uc010ezo.2_Intron|GALNT14_uc010ezp.1_Missense_Mutation_p.P82L	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	111	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCTAGTGGGTGGAAGGTCCGT	0.572000														19			9		0	0	0.010729	0	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:201352246C>T	uc001gwm.3	-	6	1577	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000														161			39		0	0	0.005524	0	0
LPIN1	23175	broad.mit.edu	37	2	11924042	11924042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:11924042C>T	uc010yjm.2	+	9	1552	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	LPIN1_uc010yjn.2_Missense_Mutation_p.P415L|LPIN1_uc002rbt.3_Missense_Mutation_p.P415L|LPIN1_uc002rbs.3_Missense_Mutation_p.P451L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	415					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGTATTTTCCCAAAAAGTAA	0.418000														65			40		0	0	0.005524	0	0
SH2D7	646892	broad.mit.edu	37	15	78390855	78390855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:78390855C>T	uc010blb.1	+	3	562	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	188										endometrium(2)|kidney(2)|lung(3)	7						CCGCTCTTCTCCAAAGCCCCA	0.622000														22			17		0	0	0.004990	0	0
MYH4	4622	broad.mit.edu	37	17	10363552	10363552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10363552C>T	uc002gmn.3	-	12	1345	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	412	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTACGAACTCATTGCCGACC	0.448000														29			39		0	0	0.007835	0	0
LGI1	9211	broad.mit.edu	37	10	95557376	95557376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:95557376C>T	uc001kjc.4	+	7	1826	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.S449F|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	497					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTGATTACTCCTTTACTCAA	0.393000														25			21		0	0	0.012319	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711564	138711564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:138711564G>A	uc003vum.1	-	3	788	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	259										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						ATGCTCAGTCGAAGGTGATGA	0.507000														18			16		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720249	140720249	+	Missense_Mutation	SNP	G	A	A	rs147953582		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140720249G>A	uc003ljk.2	+	0	1896	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.G571S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	573	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACAGACGGTTCCACTGG	0.637000														53			43		0	0	0.013114	0	0
PCDH18	54510	broad.mit.edu	37	4	138442490	138442490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:138442490G>A	uc003ihe.4	-	3	3488	c.3101C>T	c.(3100-3102)tCc>tTc	p.S1034F	PCDH18_uc003ihf.4_Missense_Mutation_p.S1026F|PCDH18_uc011cgz.2_Missense_Mutation_p.S245F|PCDH18_uc003ihg.4_Missense_Mutation_p.S813F|PCDH18_uc011cha.2_Missense_Mutation_p.S214F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1034	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCGCTCCAGGGAGTTGGACCG	0.562000														24			18		0	0	0.006122	0	0
ABCB11	8647	broad.mit.edu	37	2	169833117	169833117	+	Silent	SNP	G	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:169833117G>C	uc002ueo.1	-	11	1404	c.1278C>G	c.(1276-1278)acC>acG	p.T426T		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	426	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATAATGGAAGGTCACATTAT	0.398000														18			17		0	0	0.004990	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024424	55024424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:55024424G>A	uc002lgn.3	+	2	940	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	195					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.T194M(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGCCCCTACGGAGGCTTTCCA	0.433000														22			17		0	0	0.007413	0	0
ATP1A3	478	broad.mit.edu	37	19	42492161	42492161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42492161C>T	uc002osh.3	-	3	438	c.284G>A	c.(283-285)tGg>tAg	p.W95*	ATP1A3_uc010xwf.2_Nonsense_Mutation_p.W106*|ATP1A3_uc010xwg.2_Nonsense_Mutation_p.W65*|ATP1A3_uc002osg.3_Nonsense_Mutation_p.W95*|ATP1A3_uc010xwh.2_Nonsense_Mutation_p.W108*			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	95					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCCCGATCCACAGCAGGAT	0.652000														51			41		0	0	0.011902	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477438	110477438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:110477438G>A	uc003yne.3	+	48	8481	c.8377G>A	c.(8377-8379)Gaa>Aaa	p.E2793K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2793					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGGAACATGAAATGGTAAT	0.388000										HNSCC(38;0.096)				24			23		0	0	0.005443	0	0
MS4A14	84689	broad.mit.edu	37	11	60183826	60183826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60183826C>T	uc001npj.3	+	4	1950	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	MS4A14_uc001npi.3_Missense_Mutation_p.S350L|MS4A14_uc001npn.3_Missense_Mutation_p.S200L|MS4A14_uc001npk.3_Missense_Mutation_p.S445L|MS4A14_uc001npl.3_Missense_Mutation_p.S200L|MS4A14_uc001npm.3_Missense_Mutation_p.S200L	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	462	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GATATTAGATCAGAAGTTATG	0.398000														18			17		0	0	0.004990	0	0
NR1H4	9971	broad.mit.edu	37	12	100928704	100928704	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:100928704T>C	uc001tht.2	+	3	693	c.665T>C	c.(664-666)cTg>cCg	p.L222P	NR1H4_uc001thq.2_Missense_Mutation_p.L212P|NR1H4_uc001thp.2_Missense_Mutation_p.L208P|NR1H4_uc001thr.2_Missense_Mutation_p.L212P|NR1H4_uc010svk.2_Missense_Mutation_p.L161P|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.L218P	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	222					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.N221S(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCTAAGCGACTGAGAAAAAAT	0.418000														14			14		0	0	0.001855	0	0
AP1G2	8906	broad.mit.edu	37	14	24033266	24033266	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:24033266G>A	uc001wkl.2	-	10	1417	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	AP1G2_uc001wkk.3_Silent_p.A288A|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript|AP1G2_uc010tnp.1_Silent_p.A360A	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	360					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGCTGAGGGAGGCATCAGTTT	0.592000														8			15		0	0	0.002450	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														26			34		0	0	0.004289	0	0
DEFB112	245915	broad.mit.edu	37	6	50011342	50011342	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:50011342G>A	uc011dws.2	-	1	288	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	96					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AGTCCTTTGGGATCCAATTAT	0.418000														26			36		0	0	0.004878	0	0
UPK3A	7380	broad.mit.edu	37	22	45683325	45683325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:45683325G>A	uc003bfy.3	+	2	508	c.481G>A	c.(481-483)Gag>Aag	p.E161K	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	161					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGCAGCCACGGAGTACAGGTG	0.602000														5			8		0	0	0.003080	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957351	50957351	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50957351G>A	uc002psf.2	+	16	1875	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	608	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.A608A(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTGAGAGTGCGCAGCGGGAAG	0.602000														3			9		0	0	0.008291	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:82434923C>T	uc001dit.4	+	13	2715	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S845F|LPHN2_uc001div.3_Missense_Mutation_p.S845F|LPHN2_uc009wcd.3_Missense_Mutation_p.S845F|LPHN2_uc001diw.3_Missense_Mutation_p.S429F|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I844V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTGTCATTTCCCTTGTTTGC	0.398000														72			55		0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888086	205888086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:205888086C>T	uc001hdp.3	-	18	2252	c.2138G>A	c.(2137-2139)gGa>gAa	p.G713E	SLC26A9_uc001hdm.3_5'Flank|SLC26A9_uc001hdn.3_5'Flank|SLC26A9_uc001hdo.3_Missense_Mutation_p.G381E|SLC26A9_uc001hdq.3_Missense_Mutation_p.G713E	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	713	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAAGACGCCTCCATGGCTAAT	0.502000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		129			317		0	0	0.014410	0	0
RAB23	51715	broad.mit.edu	37	6	57072428	57072428	+	Missense_Mutation	SNP	C	T	T	rs145669565		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:57072428C>T	uc003pds.3	-	2	445	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RAB23_uc003pdt.3_Missense_Mutation_p.R80Q|RAB23_uc010kac.3_Missense_Mutation_p.R80Q|RAB23_uc010kad.3_Intron	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.	80					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R80Q(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGTTTTACCTCGATAGTAGGC	0.333000														63			38		0	0	0.010771	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255506	140255506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140255506C>T	uc003lic.2	+	0	576	c.449C>T	c.(448-450)tCt>tTt	p.S150F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S150F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGACTCTCATTTTCCT	0.448000														39			27		0	0	0.005443	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:58125899G>A	uc010rke.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000														13			11		0	0	0.013537	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431863	140431863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140431863G>A	uc003lik.1	+	0	885	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	270	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGACCTAGACGAGGGCAC	0.522000														15			8		0	0	0.003080	0	0
NINL	22981	broad.mit.edu	37	20	25450664	25450664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:25450664C>T	uc002wux.1	-	17	3390	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	NINL_uc010gdn.1_Missense_Mutation_p.E757K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1106					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.Q1105*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTTCAAGCTCTTGCCGAACC	0.502000														74			59		0	0	0.014410	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24201063C>T	uc003xdy.3	+	17	2039	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.I339I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000														21			11		0	0	0.001855	0	0
ABCE1	6059	broad.mit.edu	37	4	146044172	146044172	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:146044172G>A	uc003ijx.3	+	14	1704	c.1264_splice	c.e14-1	p.G422_splice	ABCE1_uc003ijy.3_Splice_Site_p.G422_splice|ABCE1_uc010iot.3_Splice_Site	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	422	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATTAAAAACAGGGAAGTGTTC	0.303000														9			8		0	0	0.003080	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737496	62737496	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62737496A>G	uc011abt.2	-	0	689	c.689T>C	c.(688-690)gTg>gCg	p.V230A		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	230						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTGTAGAGCACACAGATGGT	0.662000														14			17		0	0	0.004990	0	0
MATK	4145	broad.mit.edu	37	19	3784157	3784157	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:3784157C>T	uc002lyt.3	-	4	727	c.327G>A	c.(325-327)gaG>gaA	p.E109E	MATK_uc002lyv.3_Silent_p.E110E|MATK_uc002lyu.3_Silent_p.E68E|MATK_uc010dtq.3_Silent_p.E109E	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	109	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGAGGGCCTCCCGCTCCC	0.687000														24			20		0	0	0.012319	0	0
METTL2A	339175	broad.mit.edu	37	17	60518079	60518079	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:60518079C>T	uc002izv.2	+	5	789	c.771C>T	c.(769-771)atC>atT	p.I257I	METTL2A_uc002izw.3_Silent_p.I121I	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	257							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTGATATTATCATTCTCATAT	0.423000														65			32		0	0	0.012213	0	0
LAMB3	3914	broad.mit.edu	37	1	209799103	209799103	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209799103G>A	uc001hhg.3	-	12	2256	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	LAMB3_uc009xco.3_Silent_p.S622S|LAMB3_uc001hhh.3_Silent_p.S622S|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	622	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTAGGATCCGGGAGGCCAGGC	0.642000														47			69		0	0	0.014410	0	0
RNF43	54894	broad.mit.edu	37	17	56434905	56434905	+	Silent	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:56434905A>T	uc002iwf.3	-	7	4188	c.2232T>A	c.(2230-2232)ccT>ccA	p.P744P	RNF43_uc010wnv.2_Silent_p.P703P|RNF43_uc002iwh.4_Silent_p.P744P|RNF43_uc002iwg.4_Silent_p.P744P|RNF43_uc010dcw.3_Silent_p.P617P	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	744	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCATTCAGAAGGCCCCTCCC	0.602000														41			22		0	0	0.014323	0	0
CHRD	8646	broad.mit.edu	37	3	184100507	184100507	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:184100507G>A	uc003fov.3	+	7	1173	c.927G>A	c.(925-927)gaG>gaA	p.E309E	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Silent_p.E309E|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	309	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGACACAGAGGACTCCTTGC	0.587000														34			30		0	0	0.007291	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917070	139917070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:139917070G>A	uc003lfs.2	+	30	7278	c.7124G>A	c.(7123-7125)cGa>cAa	p.R2375Q	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.R2375Q|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R1131Q|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.R1030Q|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.R751Q|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R529Q	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2375						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGGCCCGAATTCGGCAA	0.557000														27			24		0	0	0.003330	0	0
LINGO2	158038	broad.mit.edu	37	9	27949363	27949363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:27949363C>T	uc003zqv.1	-	6	1957	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	LINGO2_uc010mjf.1_Missense_Mutation_p.G436E|LINGO2_uc003zqu.1_Missense_Mutation_p.G436E|LINGO2_uc022bfc.1_Missense_Mutation_p.G436E	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	436	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTGCGGGTCTCCATCTGCACT	0.502000														16			22		0	0	0.014323	0	0
MYLK2	85366	broad.mit.edu	37	20	30414646	30414646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:30414646C>T	uc002wwq.2	+	7	1231	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	MYLK2_uc002wws.2_5'UTR	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	377	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.H377Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGAGGACTACCATCTGACCGA	0.582000														20			19		0	0	0.008871	0	0
POM121L12	285877	broad.mit.edu	37	7	53103700	53103700	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:53103700C>T	uc003tpz.3	+	0	352	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	112										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGAGACCTCTCCTGTGCCT	0.721000														13			15		0	0	0.004007	0	0
RWDD1	51389	broad.mit.edu	37	6	116910006	116910006	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:116910006C>T	uc003pxd.3	+	4	434	c.271_splice	c.e4-1	p.A91_splice	RWDD1_uc003pxc.3_Splice_Site|RWDD1_uc003pxb.3_Splice_Site	NM_015952	NP_057188	Q9H446	RWDD1_HUMAN	Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA.	91	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		GTTACACAGGCTGAAGAAAAT	0.289000														5			11		0	0	0.001855	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987027	7987028	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:7987027_7987028GG>AA	uc002miw.2	+	3	538_539	c.480_481GG>AA	c.(478-483)caggaa>caAAaa	p.E161K	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	161					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGAGGACAGGAAGACCCCGC	0.663000														32			32		0	0	0.004672	0	0
OTOF	9381	broad.mit.edu	37	2	26688892	26688892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:26688892G>A	uc002rhk.3	-	36	4680	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V	OTOF_uc010yla.2_Missense_Mutation_p.A248V|OTOF_uc002rhh.3_Missense_Mutation_p.A751V|OTOF_uc002rhi.3_Missense_Mutation_p.A828V|OTOF_uc002rhj.3_Missense_Mutation_p.A751V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1518	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCCGGATGGCGATGTAGGG	0.592000														28			31		0	0	0.008361	0	0
RYR1	6261	broad.mit.edu	37	19	39023334	39023334	+	Silent	SNP	G	A	A	rs148659292	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:39023334G>A	uc002oit.3	+	77	11347	c.11217G>A	c.(11215-11217)ggG>ggA	p.G3739G	RYR1_uc002oiu.3_Silent_p.G3734G|RYR1_uc002oiv.1_Silent_p.G654G|RYR1_uc010xuf.1_Silent_p.G659G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3739					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	AGGAGGGAGGGGAGAACGGTG	0.602000														20			16		0	0	0.012319	0	0
NXF5	55998	broad.mit.edu	37	X	101097735	101097735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:101097735C>T	uc011mrk.1	-	2	390	c.30G>A	c.(28-30)atG>atA	p.M10I	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	10					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.M10I(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACCATTTCCTCATGTTTTCAT	0.423000														5			79		0	0	0.014410	0	0
ENOX2	10495	broad.mit.edu	37	X	129804161	129804161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:129804161G>A	uc004evw.3	-	7	977	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ENOX2_uc004evx.3_Missense_Mutation_p.R158C|ENOX2_uc004evy.3_Missense_Mutation_p.R158C|ENOX2_uc004evv.3_Missense_Mutation_p.R14C	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	187	RRM.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAGCCCAGGCGAATGCGGTAA	0.522000														0			16		0	0	0.003163	0	0
FBLN2	2199	broad.mit.edu	37	3	13679062	13679062	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:13679062G>A	uc011avc.2	+	18	3721	c.3339_splice	c.e18-1	p.T1113_splice	FBLN2_uc011auz.2_Splice_Site_p.T1092_splice|FBLN2_uc011avb.2_Splice_Site_p.T1066_splice|FBLN2_uc011ava.2_Splice_Site_p.T1113_splice	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1066	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T532T(1)|p.T1113T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCCCTGCAGGAAGTGCGAGC	0.657000														10			6		0	0	0.001984	0	0
EPSTI1	94240	broad.mit.edu	37	13	43462570	43462570	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:43462570A>T	uc001uyw.1	-	12	1125	c.1049T>A	c.(1048-1050)cTt>cAt	p.L350H	EPSTI1_uc001uyx.1_3'UTR	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		ATTAAGAAAAAGCATCTCATG	0.403000														23			50		0	0	0.014410	0	0
BRWD3	254065	broad.mit.edu	37	X	79978134	79978134	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:79978134G>A	uc004edt.3	-	16	2066	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	BRWD3_uc010nmi.2_5'Flank|BRWD3_uc004edp.3_Silent_p.F430F|BRWD3_uc004edq.3_Silent_p.F197F|BRWD3_uc010nmj.2_Silent_p.F197F|BRWD3_uc004edr.3_Silent_p.F271F|BRWD3_uc004eds.3_Silent_p.F197F|BRWD3_uc004edo.3_Silent_p.F197F|BRWD3_uc004edu.3_Silent_p.F271F|BRWD3_uc004edv.3_Silent_p.F197F|BRWD3_uc004edw.3_Silent_p.F197F|BRWD3_uc004edx.3_Silent_p.F197F|BRWD3_uc004edy.3_Silent_p.F197F|BRWD3_uc004edz.3_Silent_p.F271F|BRWD3_uc004eea.3_Silent_p.F271F|BRWD3_uc004eeb.3_Silent_p.F197F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	601										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAACCGTTGGAATTTTGTGG	0.403000														2			19		0	0	0.012319	0	0
FGB	2244	broad.mit.edu	37	4	155486985	155486985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:155486985G>A	uc003ioa.4	+	1	179	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Missense_Mutation_p.R47Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	47	Beta-chain polymerization, binding distal domain of another fibrin.		Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CGTGGTCATCGACCCCTTGAC	0.522000														15			15		0	0	0.004007	0	0
C8orf80	389643	broad.mit.edu	37	8	27917983	27917983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:27917983C>T	uc003xgm.4	-	7	1200	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	353						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ATCTTGGTGACCACCAGGGCC	0.567000											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			7		0	0	0.004482	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131665	142131665	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142131665C>T	uc010lnz.1	-	1	134	c.90G>A	c.(88-90)ctG>ctA	p.L30L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Splice_Site					SubName: Full=V_segment translation product; Flags: Fragment;																		TCGTTTTGATCAGGTGTGTGG	0.572000														26			25		0	0	0.003954	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458313	42458313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42458313G>A	uc002igt.1	-	12	1359	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	443					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GAGCCTGTGGGGAAGGGGCTG	0.637000														41			30		0	0	0.009535	0	0
SMYD3	64754	broad.mit.edu	37	1	246093226	246093226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:246093226G>A	uc001ibl.3	-	5	670	c.545C>T	c.(544-546)tCt>tTt	p.S182F	SMYD3_uc001ibk.3_Missense_Mutation_p.S123F|SMYD3_uc001ibj.3_5'UTR	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	182	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GATGGTGAAAGAGTTGCAGAT	0.413000														21			51		0	0	0.014410	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514633	51514633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:51514633C>T	uc001zyz.4	-	5	792	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CYP19A1_uc001zza.4_Missense_Mutation_p.E181K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E181K|CYP19A1_uc001zzd.3_Missense_Mutation_p.E181K|CYP19A1_uc010bey.1_Missense_Mutation_p.E181K	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	181					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.N180K(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TAGCCCGATTCATTGGTCACC	0.522000														20			16		0	0	0.004007	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92150271C>T	uc001xzs.1	-	10	1021	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	294					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCACAGTTTTCCTTTCACATA	0.254000														29			31		0	0	0.013726	0	0
DGKK	139189	broad.mit.edu	37	X	50119860	50119860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:50119860G>A	uc010njr.2	-	23	3192	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1057					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGGGTTGAGGGGCAGCTTGA	0.478000														0			10		0	0	0.006214	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606511	31606511	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:31606511G>A	uc002wyj.3	+	8	932	c.738G>A	c.(736-738)agG>agA	p.R246R		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	246						extracellular region	lipid binding										TGTTGCCAAGGCATGTGGGTA	0.627000														69			64		0	0	0.014410	0	0
RORB	6096	broad.mit.edu	37	9	77286797	77286797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:77286797G>A	uc004aji.3	+	8	1286	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	RORB_uc004ajh.3_Missense_Mutation_p.D402N	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	413	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GAATCACCTGGATGATGAGAC	0.433000														13			11		0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179473133	179473133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179473133C>T	uc021vsy.1	-	223	44998	c.44773G>A	c.(44773-44775)Gaa>Aaa	p.E14925K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8620K|TTN_uc021vta.1_Missense_Mutation_p.E8553K|TTN_uc021vtb.1_Missense_Mutation_p.E8428K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15852	Fibronectin type-III 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTGGTTCATTCCATTTC	0.393000														7			9		0	0	0.004482	0	0
FAM83G	644815	broad.mit.edu	37	17	18874834	18874834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18874834C>T	uc002guw.3	-	5	2477	c.2310G>A	c.(2308-2310)atG>atA	p.M770I	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	770										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGCCATCGGTCATGGGGCGGG	0.652000														70			40		0	0	0.006999	0	0
IGSF10	285313	broad.mit.edu	37	3	151161648	151161648	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:151161648T>C	uc011bod.2	-	4	5087	c.5087A>G	c.(5086-5088)cAg>cGg	p.Q1696R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1696	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGCTATTCTGTTTCCTCTT	0.413000														7			13		0	0	0.004007	0	0
CCDC108	255101	broad.mit.edu	37	2	219888018	219888018	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:219888018G>A	uc002vjl.1	-	15	2815	c.2731C>T	c.(2731-2733)Ctg>Ttg	p.L911L		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	911	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGAACTGCAGGGGCAGACGC	0.622000														20			12		0	0	0.013537	0	0
C7orf60	154743	broad.mit.edu	37	7	112535637	112535637	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:112535637C>A	uc011kms.1	-	3	665	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	C7orf60_uc003vgo.1_Nonsense_Mutation_p.E154*	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	154										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTTATAAATTCAGGGTTTGTA	0.353000														61			34		6.19805e-25	6.89574e-25	0.005524	1	0
CCNT1	904	broad.mit.edu	37	12	49087188	49087188	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:49087188G>A	uc001rsd.4	-	8	2132	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	CCNT1_uc009zkz.2_Silent_p.S318S|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	603	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GTGAAGGGAAGGAGAAATTTA	0.488000														34			20		0	0	0.010504	0	0
TNXB	7148	broad.mit.edu	37	6	32046988	32046988	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:32046988G>A	uc003nzl.2	-	10	4399	c.4197C>T	c.(4195-4197)ttC>ttT	p.F1399F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1486	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAAGAGTCGAAGCTGCCCT	0.677000														416			131		0	0	0.014410	0	0
SEPT12	124404	broad.mit.edu	37	16	4828112	4828112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:4828112G>A	uc002cxq.3	-	8	1114	c.850C>T	c.(850-852)Cct>Tct	p.P284S	SEPT12_uc002cxr.3_Missense_Mutation_p.P238S|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	284					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCAGGAGAGGAAATTCACAG	0.602000														15			15		0	0	0.006122	0	0
ABCG5	64240	broad.mit.edu	37	2	44040275	44040275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:44040275C>T	uc002rtn.3	-	12	2076	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N	ABCG5_uc002rtm.3_Missense_Mutation_p.D251N|ABCG5_uc002rto.3_Missense_Mutation_p.D475N|ABCG5_uc002rtp.3_Missense_Mutation_p.D251N	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	646					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGAGATGATCCCTTATTTTG	0.423000														99			71		0	0	0.014410	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605804	58605804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:58605804G>A	uc001nnd.4	-	2	247	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GLYATL2_uc009ymq.3_Missense_Mutation_p.P39L	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	39						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATGTTGAAAGGGTTTTTATC	0.428000														23			16		0	0	0.004990	0	0
SH2D7	646892	broad.mit.edu	37	15	78390853	78390853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:78390853C>T	uc010blb.1	+	3	560	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	187										endometrium(2)|kidney(2)|lung(3)	7						CCCCGCTCTTCTCCAAAGCCC	0.612000														23			17		0	0	0.006122	0	0
MAP1B	4131	broad.mit.edu	37	5	71492061	71492061	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:71492061A>G	uc003kbw.4	+	4	3120	c.2879A>G	c.(2878-2880)gAa>gGa	p.E960G	MAP1B_uc010iyw.1_Missense_Mutation_p.E977G|MAP1B_uc010iyx.1_Missense_Mutation_p.E834G|MAP1B_uc010iyy.1_Missense_Mutation_p.E834G	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	960						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGGGGAGGAACACGTATGT	0.537000														24			18		0	0	0.006122	0	0
MLLT4	4301	broad.mit.edu	37	6	168347581	168347581	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:168347581A>G	uc021zik.1	+	26	3728	c.3409_splice	c.e26+1	p.N1137_splice	MLLT4_uc003qwb.1_Splice_Site_p.N1162_splice|MLLT4_uc003qwc.2_Splice_Site_p.N1178_splice|MLLT4_uc021zij.1_Splice_Site_p.N1161_splice|MLLT4_uc021zim.1_Splice_Site_p.N724_splice|MLLT4_uc003qwg.1_Splice_Site_p.N487_splice	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1178					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAACGTAGCAAGTAAGAGTGA	0.413000			T	MLL	AL									5			27		0	0	0.005443	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560232	155560232	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:155560232G>A	uc003fan.4	-	1	1414	c.952C>T	c.(952-954)Cta>Tta	p.L318L	SLC33A1_uc003fao.2_Silent_p.L318L	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	318					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCAGTTAGAATCAGAAGG	0.318000														12			10		0	0	0.008291	0	0
FAR2	55711	broad.mit.edu	37	12	29446289	29446289	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:29446289T>G	uc001rit.3	+	2	514	c.246T>G	c.(244-246)atT>atG	p.I82M	FAR2_uc001ris.4_Missense_Mutation_p.I82M|FAR2_uc009zjm.3_5'UTR|AX746523_uc001riu.1_Non-coding_Transcript	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	82					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCAGAGCTATTTATGCAGATC	0.368000														27			30		0	0	0.009535	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808340	93808340	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:93808340G>A	uc001pep.2	+	9	1662	c.1505_splice	c.e9-1	p.G502_splice	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	502	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATATCCTCAGGATTTGTGAAA	0.473000														12			8		0	0	0.004482	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143938	42143938	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:42143938C>T	uc010zwh.2	+	5	670	c.594C>T	c.(592-594)gtC>gtT	p.V198V	L3MBTL1_uc010ggk.2_Silent_p.V130V|L3MBTL1_uc002xkm.3_Silent_p.V130V|L3MBTL1_uc010ggl.3_Silent_p.V130V|L3MBTL1_uc002xkl.3_Silent_p.V130V	NM_032107	NP_115479	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant II, mRNA.	130					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCAGGTCAGTCATAGTGGAGA	0.582000														7			6		0	0	0.001168	0	0
TRIM63	84676	broad.mit.edu	37	1	26385114	26385114	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:26385114C>T	uc001bli.1	-	5	734	c.598_splice	c.e5-1	p.E200_splice		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	200	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	p.E200K(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGACTGTTCTCCTGAGGACGG	0.493000														47			46		0	0	0.013114	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10348361G>A	uc002gmn.3	-	36	5509	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1800					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562000														59			47		0	0	0.014410	0	0
KRAS	3845	broad.mit.edu	37	12	25380274	25380274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:25380274C>T	uc001rgp.1	-	2	365	c.184G>A	c.(184-186)Gag>Aag	p.E62K	KRAS_uc001rgq.1_Missense_Mutation_p.E62K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	62					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61R(56)|p.Q61K(32)|p.Q61P(12)|p.Q61E(10)|p.E62_S65>D(1)|p.E62D(1)|p.Q61D(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTGTACTCCTCTTGACCTGCT	0.423000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				12			11		0	0	0.010729	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749712	139749712	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:139749712C>T	uc004cjs.3	+	10	1254	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	MAMDC4_uc011mej.2_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	402	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCAGATCCTCCTGGCCGGGCA	0.677000														18			15		0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196636525	196636525	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:196636525G>A	uc002utj.4	-	60	11393	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F	DNAH7_uc002uti.4_Silent_p.F247F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3764					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F3764F(4)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCGATGTCGAAGTTGTTTG	0.448000														65			64		0	0	0.014410	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820022	50820022	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:50820022C>T	uc001jhw.3	+	0	1676	c.1236C>T	c.(1234-1236)cgC>cgT	p.R412R	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	412					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGACGTGCGCCATGTCTCAG	0.622000														10			8		0	0	0.003080	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393880	233393880	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:233393880G>A	uc001hvl.2	-	4	1963	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	576						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAAATTCCAGGAAGTTGGACT	0.423000														15			41		0	0	0.006999	0	0
FCRL1	115350	broad.mit.edu	37	1	157771832	157771832	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:157771832C>T	uc001frg.3	-	4	872	c.759G>A	c.(757-759)tcG>tcA	p.S253S	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.S253S|FCRL1_uc001fri.3_Silent_p.S253S|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	253	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGAGGGGGCCGACCTGCTCC	0.582000														69			23		0	0	0.014323	0	0
C1orf110	339512	broad.mit.edu	37	1	162829271	162829271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:162829271C>T	uc001gck.2	-	1	341	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	C1orf110_uc009wux.1_Missense_Mutation_p.E56K	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	56										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTCTGCAGTTCTTTTTGGAGC	0.552000														32			5		0	0	0.000602	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558598	129558598	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:129558598T>A	uc009zyl.1	-	8	3450	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I	TMEM132D_uc001uia.2_Missense_Mutation_p.K579I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1041						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTTCCTTTTTGAGGTAGG	0.483000														25			26		0	0	0.003954	0	0
LAMA5	3911	broad.mit.edu	37	20	60921769	60921769	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:60921769T>A	uc002ycq.3	-	7	1227	c.1160A>T	c.(1159-1161)tAt>tTt	p.Y387F	LAMA5_uc021wfw.1_Missense_Mutation_p.Y387F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	387	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACCCTGATAGGTGCCATC	0.657000														14			14		0	0	0.004007	0	0
NLRP3	114548	broad.mit.edu	37	1	247582213	247582213	+	Silent	SNP	C	T	T	rs145314485		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:247582213C>T	uc001icr.3	+	2	255	c.117C>T	c.(115-117)atC>atT	p.I39I	NLRP3_uc001ics.3_Silent_p.I39I|NLRP3_uc001icu.3_Silent_p.I39I|NLRP3_uc001icw.3_Silent_p.I39I|NLRP3_uc001icv.3_Silent_p.I39I|NLRP3_uc010pyw.2_Silent_p.I37I|NLRP3_uc001ict.1_Silent_p.I37I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	39	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGGCTGCATCCCCCTCCCGA	0.572000														12			36		0	0	0.003755	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183844	19183844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:19183844G>A	uc001bba.1	-	1	465	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	155					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GAGAAATAGGGAGAGGAAGTT	0.572000														21			8		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179641325	179641325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179641325C>T	uc021vsy.1	-	27	5491	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	TTN_uc021vsz.1_Missense_Mutation_p.E1710K|TTN_uc021vta.1_Missense_Mutation_p.E1710K|TTN_uc021vtb.1_Missense_Mutation_p.E1710K|TTN_uc002unb.2_Missense_Mutation_p.E1756K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1756	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCCAAATTCATTGATCATA	0.468000														23			27		0	0	0.004656	0	0
DCAF6	55827	broad.mit.edu	37	1	168007709	168007709	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:168007709G>A	uc001gew.3	+	10	1832	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	DCAF6_uc001gex.3_Silent_p.L570L|DCAF6_uc010plk.2_Silent_p.L539L|DCAF6_uc001gev.3_Silent_p.L513L|DCAF6_uc001gey.3_Silent_p.L366L	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	493					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CAATAAAACTGAACTTTACAG	0.328000														23			46		0	0	0.013114	0	0
LRRC16B	90668	broad.mit.edu	37	14	24533496	24533496	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:24533496C>T	uc001wlj.2	+	31	3178	c.3021C>T	c.(3019-3021)acC>acT	p.T1007T	LRRC16B_uc001wlk.2_Silent_p.T103T	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1007										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGATGGCCACCCGCCTGGATG	0.577000														5			10		0	0	0.008291	0	0
ADAM15	8751	broad.mit.edu	37	1	155028639	155028639	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:155028639C>T	uc001fgr.1	+	8	929	c.828C>T	c.(826-828)aaC>aaT	p.N276N	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.N260N|ADAM15_uc010peu.1_Silent_p.N293N|ADAM15_uc001fgx.1_Silent_p.N276N|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.N276N|ADAM15_uc001fgs.1_Silent_p.N276N|ADAM15_uc010pev.1_Silent_p.N286N|ADAM15_uc001fgu.1_Silent_p.N276N|ADAM15_uc001fgv.1_Silent_p.N276N|ADAM15_uc001fgw.1_Silent_p.N276N	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	276	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCAGCCCAAACCCAGCTGTCA	0.612000														70			16		0	0	0.007413	0	0
BANK1	55024	broad.mit.edu	37	4	102951364	102951364	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:102951364C>T	uc003hvy.4	+	9	2116	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P	BANK1_uc003hvx.4_Silent_p.P599P|BANK1_uc010ill.3_Silent_p.P481P|BANK1_uc003hvz.4_Silent_p.P584P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	614					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCCTGCCCCCACACCCCGAC	0.373000														25			17		0	0	0.006122	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:16875863C>T	uc002neu.4	+	9	2692	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_uc002net.4_Missense_Mutation_p.S622F|NWD1_uc002nev.4_Missense_Mutation_p.S551F|NWD1_uc021uqg.1_Missense_Mutation_p.S622F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000														21			16		0	0	0.004007	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148985629	148985629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:148985629C>T	uc003ilf.3	+	21	2243	c.2243C>T	c.(2242-2244)tCt>tTt	p.S748F	ARHGAP10_uc003ilg.3_Missense_Mutation_p.S346F|ARHGAP10_uc003ilh.3_Missense_Mutation_p.S329F|ARHGAP10_uc003ili.3_Missense_Mutation_p.S181F	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	748	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCGGAATTATCTTTTGAAATA	0.443000														16			24		0	0	0.003330	0	0
TRDN	10345	broad.mit.edu	37	6	123539883	123539883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:123539883G>A	uc003pzj.2	-	40	2371	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	TRDN_uc010kem.2_Missense_Mutation_p.P186S	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	685					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AAACTGATGGGACCTAAGGAA	0.473000														0			3		0	0	0.004672	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387270	61387270	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:61387270A>T	uc002ljk.4	+	6	667	c.496A>T	c.(496-498)Aag>Tag	p.K166*	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_Nonsense_Mutation_p.K53*|SERPINB11_uc002ljj.4_Nonsense_Mutation_p.K53*|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	167					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTCTTTGGAAAGAGCACAAT	0.323000														21			8		0	0	0.003080	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565046	58565046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:58565046G>A	uc002qrc.1	+	5	1101	c.854G>A	c.(853-855)gGg>gAg	p.G285E		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	285					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTGCCGCGTGGGCCCCGAGGT	0.632000														23			25		0	0	0.005443	0	0
A2M	2	broad.mit.edu	37	12	9242531	9242531	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:9242531C>T	uc001qvk.1	-	20	2798	c.2685G>A	c.(2683-2685)agG>agA	p.R895R	A2M_uc009zgk.1_Silent_p.R745R	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	895					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTGTCTTTCCTTCCGTGTT	0.373000														23			24		0	0	0.003954	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808038	160808038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:160808038G>A	uc002ube.2	-	23	3565	c.3353C>T	c.(3352-3354)aCc>aTc	p.T1118I	PLA2R1_uc010zcp.2_Missense_Mutation_p.T1118I|PLA2R1_uc002ubf.3_Missense_Mutation_p.T1118I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1118					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATTCTAAGGTATTGGGCAT	0.373000														13			24		0	0	0.002780	0	0
NPHP3	27031	broad.mit.edu	37	3	132294746	132294746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:132294746G>A	uc003eov.4	-	16	2251	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGGCCTTGGGAAATTTCAAA	0.483000														37			26		0	0	0.007291	0	0
CHD1	1105	broad.mit.edu	37	5	98229217	98229217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:98229217C>T	uc003knf.3	-	12	2042	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	632	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GATTTAAAATCTATTAAAGTT	0.368000														51			21		0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13901522	13901523	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:13901522_13901523GG>AA	uc003jfd.2	-	13	1932_1933	c.1890_1891CC>TT	c.(1888-1893)gcccgc>gcTTgc	p.R631C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	631	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAGCTGGCGGGCCCACAAAA	0.500000									Kartagener syndrome					9			11		0	0	0.004672	0	0
GK2	2712	broad.mit.edu	37	4	80327758	80327758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:80327758C>T	uc003hlu.3	-	0	1615	c.1597G>A	c.(1597-1599)Gga>Aga	p.G533R		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	533					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATAAAAAATCCCAAAGGCAGA	0.418000														25			20		0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179576684	179576684	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179576684G>A	uc021vsy.1	-	92	24366	c.24141C>T	c.(24139-24141)ttC>ttT	p.F8047F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4708F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8974	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACGGTAAGGAAAGTTGATG	0.353000														43			42		0	0	0.009718	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884668	22884668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:22884668G>A	uc003xcu.2	-	6	1207	c.914C>T	c.(913-915)cCc>cTc	p.P305L	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.P70L|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.P125L|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.P203L|TNFRSF10B_uc003xct.2_Missense_Mutation_p.P276L	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	305					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGACTCCCCGGGGGACAACAT	0.562000														19			18		0	0	0.004990	0	0
ULK1	8408	broad.mit.edu	37	12	132400481	132400481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:132400481G>A	uc001uje.3	+	18	1923	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	552					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGGCTGGGCTGCCGCCTGCAC	0.697000														21			21		0	0	0.003954	0	0
SSFA2	6744	broad.mit.edu	37	2	182766878	182766878	+	Silent	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:182766878T>C	uc002uoi.3	+	7	1420	c.1098T>C	c.(1096-1098)agT>agC	p.S366S	SSFA2_uc002uoh.3_Silent_p.S366S|SSFA2_uc002uoj.3_Silent_p.S366S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.S213S|SSFA2_uc002uol.3_Silent_p.S213S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	366						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCTGGTAGTTCAGCAGCTG	0.333000														21			18		0	0	0.007413	0	0
SCG3	29106	broad.mit.edu	37	15	51975550	51975550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:51975550G>A	uc002abh.3	+	3	719	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	106					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GTTGAATGTGGAAGATGTTGA	0.323000														61			35		0	0	0.004289	0	0
DSC3	1825	broad.mit.edu	37	18	28581646	28581646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:28581646C>T	uc002kwj.4	-	13	2328	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	DSC3_uc002kwi.4_Missense_Mutation_p.E725K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	725					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCTAAATCTTCAGGAAAACGT	0.299000														31			24		0	0	0.007291	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412914	19412914	+	RNA	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:19412914C>T	uc010tcj.1	-	0		c.33196G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCCATCAGATCTTTCATTTCT	0.274000														62			21		0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43406586	43406586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:43406586C>T	uc002ovg.1	-	5	1352	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.G258E	NM_001031850	NP_001027020	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 2, mRNA.	0					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				tgtctggtttccatggcaggg	0.443000														87			59		0	0	0.014410	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														113			14		0	0	0.014323	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951123	30951123	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:30951123C>T	uc003aig.1	-	3	1229	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	GAL3ST1_uc003aih.1_Silent_p.Q363Q|GAL3ST1_uc003aii.1_Silent_p.Q363Q|GAL3ST1_uc010gvz.1_Silent_p.Q363Q	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	363					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTGCCAGGGCTGCATGGCCT	0.706000														12			14		0	0	0.003163	0	0
CNTN3	5067	broad.mit.edu	37	3	74350817	74350817	+	Silent	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:74350817A>G	uc003dpm.1	-	13	2006	c.1926T>C	c.(1924-1926)ggT>ggC	p.G642G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	642	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V641L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CGGTTTGCCAACCCACGGAGA	0.458000														22			16		0	0	0.006122	0	0
RAG2	5897	broad.mit.edu	37	11	36614842	36614842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:36614842C>T	uc021qge.1	-	0	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K	RAG2_uc021qgc.1_Missense_Mutation_p.E293K|RAG2_uc021qgd.1_Missense_Mutation_p.E293K|RAG2_uc001mwv.4_Missense_Mutation_p.E293K|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	293			E -> G (in dbSNP:rs16929093).		T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGTTGTCCTCTAAAGAGATG	0.398000									Familial Hemophagocytic Lymphohistiocytosis					45			41		0	0	0.006230	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163155	123163155	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:123163155G>A	uc004bkf.3	-	34	5497	c.5316C>T	c.(5314-5316)caC>caT	p.H1772H	CDK5RAP2_uc010mvi.3_Silent_p.H781H|CDK5RAP2_uc004bke.3_Silent_p.H1057H|CDK5RAP2_uc004bkg.3_Silent_p.H1693H|CDK5RAP2_uc011lxw.2_Silent_p.H1037H|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.H1037H|CDK5RAP2_uc011lya.2_Silent_p.H1037H|CDK5RAP2_uc004bkh.1_Silent_p.H1542H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1772	Interaction with PCNT and AKAP9.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTGGTGCTGGGTGTGGACCCT	0.512000														20			11		0	0	0.013537	0	0
HELLS	3070	broad.mit.edu	37	10	96333741	96333741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96333741C>T	uc009xuo.3	+	7	607	c.502C>T	c.(502-504)Ctc>Ttc	p.L168F	HELLS_uc001kjs.3_Missense_Mutation_p.L152F|HELLS_uc001kjt.3_Missense_Mutation_p.L168F|HELLS_uc009xul.3_Missense_Mutation_p.L168F|HELLS_uc009xum.3_Missense_Mutation_p.L168F|HELLS_uc009xun.3_Missense_Mutation_p.L44F|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.L30F|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	168					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTCTACTAATCTCTGTGTGGA	0.323000														39			24		0	0	0.004656	0	0
BCAP29	55973	broad.mit.edu	37	7	107253875	107253875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:107253875C>T	uc011kma.1	+	5	702	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	BCAP29_uc003vej.2_Nonsense_Mutation_p.Q230*|BCAP29_uc011kly.1_Nonsense_Mutation_p.Q136*	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	Homo sapiens B-cell receptor-associated protein 29 (BCAP29), transcript variant 1, mRNA.	230					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CTCTGAACTTCAGGTGGGTGT	0.358000														16			12		0	0	0.010729	0	0
PRSS12	8492	broad.mit.edu	37	4	119259455	119259455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:119259455G>A	uc003ica.2	-	1	564	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	173	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTGCCGCCACGAAGTCGTACT	0.413000														13			10		0	0	0.006214	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24259437C>T	uc003xdz.2	+	11	1372	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ADAMDEC1_uc010lub.2_Silent_p.F305F|ADAMDEC1_uc011lab.1_Silent_p.F305F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000														28			15		0	0	0.004007	0	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	C	C	rs121913240		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:25380276T>C	uc001rgp.1	-	2	363	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_uc001rgq.1_Missense_Mutation_p.Q61R	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				12			11		0	0	0.010729	0	0
FUT9	10690	broad.mit.edu	37	6	96651899	96651899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:96651899G>A	uc003pop.4	+	2	1209	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	FUT9_uc021zcw.1_Missense_Mutation_p.E290K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	290					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATTCATGTGGAAGATTATAA	0.388000														0			12		0	0	0.010729	0	0
ABCA13	154664	broad.mit.edu	37	7	48545956	48545956	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:48545956A>T	uc003toq.2	+	48	13340	c.13316A>T	c.(13315-13317)tAt>tTt	p.Y4439F	ABCA13_uc010kys.1_Missense_Mutation_p.Y1514F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.Y169F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4439					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCCACCCATATGGAGGGGCC	0.478000														20			22		0	0	0.014323	0	0
COL4A2	1284	broad.mit.edu	37	13	111164316	111164316	+	Silent	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:111164316A>C	uc001vqx.3	+	47	5206	c.4917A>C	c.(4915-4917)tcA>tcC	p.S1639S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1639	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGGCCAATCACTGGTGTCAC	0.632000														19			32		0	0	0.004289	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600773	147600773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:147600773C>T	uc003weu.2	+	13	2731	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	739	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)			CTGCACAGATCCCAAGTACTA	0.567000										HNSCC(39;0.1)				11			7		0	0	0.001984	0	0
LAMB3	3914	broad.mit.edu	37	1	209796404	209796404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209796404C>T	uc001hhg.3	-	15	2869	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R	LAMB3_uc009xco.3_Missense_Mutation_p.G827R|LAMB3_uc001hhh.3_Missense_Mutation_p.G827R|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	827	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGAAGGCCCCACCGGCCCTG	0.652000														95			34		0	0	0.013726	0	0
MYH6	4624	broad.mit.edu	37	14	23855654	23855654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23855654C>T	uc001wjv.3	-	32	4900	c.4829G>A	c.(4828-4830)cGc>cAc	p.R1610H		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1610					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GACCTCGTTGCGGCTGCGTGT	0.607000														57			47		0	0	0.014410	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36826	36826	+	RNA	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrGL000241.1:36826C>T	uc011mgv.2	-	0		c.50G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CGGCTCAGGACGAGTATGTGA	0.577000														9			3		0	0	0.004672	0	0
TLX3	30012	broad.mit.edu	37	5	170736745	170736745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:170736745C>T	uc003mbf.3	+	0	458	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCAATTTCCCCTGGATGGA	0.706000			T	BCL11B	T-ALL									13			11		0	0	0.001855	0	0
SGSM1	129049	broad.mit.edu	37	22	25313627	25313627	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:25313627C>T	uc003abg.2	+	23	3253	c.3096C>T	c.(3094-3096)atC>atT	p.I1032I	SGSM1_uc010guu.1_Silent_p.I977I|SGSM1_uc003abh.2_Silent_p.I971I|SGSM1_uc003abj.2_Silent_p.I916I|SGSM1_uc003abi.1_Silent_p.I952I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1032	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTGACAGATCCTGGACTCAG	0.507000														12			14		0	0	0.001855	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701515	48701515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:48701515G>A	uc001crn.2	+	10	1383	c.1331G>A	c.(1330-1332)aGg>aAg	p.R444K	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.R419K|SLC5A9_uc010omt.1_Missense_Mutation_p.R433K|SLC5A9_uc001crp.2_Missense_Mutation_p.R86K|SLC5A9_uc010omu.1_Missense_Mutation_p.R86K	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	419						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGCTTCCGCAGGAAGTCAACA	0.607000														36			23		0	0	0.003954	0	0
OR2B11	127623	broad.mit.edu	37	1	247614628	247614628	+	Silent	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:247614628A>G	uc010pyx.2	-	0	657	c.657T>C	c.(655-657)ctT>ctC	p.L219L		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATAGGAGAGAAGGATGAGAG	0.577000														27			46		0	0	0.014410	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089998	43089998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:43089998G>A	uc001jaf.1	-	4	515	c.400C>T	c.(400-402)Cct>Tct	p.P134S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.P22S|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCTGGAAGGAAAAGAACTT	0.328000														21			11		0	0	0.008291	0	0
MGAT4A	11320	broad.mit.edu	37	2	99272821	99272821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:99272821C>T	uc002sze.3	-	6	1006	c.692G>A	c.(691-693)aGa>aAa	p.R231K	MGAT4A_uc010yvm.2_Missense_Mutation_p.R103K|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Missense_Mutation_p.R103K	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	231					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TCACCTTACTCTTTCTTTGGA	0.368000														65			48		0	0	0.014410	0	0
FBLN7	129804	broad.mit.edu	37	2	112945036	112945036	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:112945036A>G	uc002tho.1	+	7	1544	c.1273A>G	c.(1273-1275)Aac>Gac	p.N425D	FBLN7_uc010fki.1_Missense_Mutation_p.N379D|FBLN7_uc010fkj.1_Missense_Mutation_p.N291D	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	425					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTTCCAGGCCAACCACGTGTC	0.582000														64			45		0	0	0.014410	0	0
OTOP3	347741	broad.mit.edu	37	17	72937725	72937725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:72937725C>T	uc010wrr.2	+	1	311	c.311C>T	c.(310-312)gCc>gTc	p.A104V	OTOP3_uc010wrq.2_Missense_Mutation_p.A86V	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	104						integral to membrane|intracellular	zinc ion binding	p.G103G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGGGTGGCGCCTTCATCTGC	0.612000														27			14		0	0	0.004007	0	0
RPP38	10557	broad.mit.edu	37	10	15145764	15145764	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:15145764A>G	uc001iny.4	+	2	1164	c.451A>G	c.(451-453)Agc>Ggc	p.S151G	RPP38_uc009xjm.3_Missense_Mutation_p.S151G|RPP38_uc001inx.4_Missense_Mutation_p.S151G|RPP38_uc021pnk.1_Missense_Mutation_p.S151G	NM_183005	NP_892117	P78345	RPP38_HUMAN	Homo sapiens ribonuclease P/MRP 38kDa subunit (RPP38), transcript variant 1, mRNA.	151					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GATTCAGTTAAGCCTAAGCAG	0.498000														15			19		0	0	0.008871	0	0
LRRC7	57554	broad.mit.edu	37	1	70504778	70504778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:70504778C>T	uc001dep.3	+	18	3187	c.3157C>T	c.(3157-3159)Caa>Taa	p.Q1053*	LRRC7_uc009wbg.3_Nonsense_Mutation_p.Q337*|LRRC7_uc001deq.3_Nonsense_Mutation_p.Q294*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1053						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCCCCTTTTCAACACAATCC	0.438000														16			13		0	0	0.001855	0	0
NLRP10	338322	broad.mit.edu	37	11	7982253	7982253	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:7982253G>A	uc001mfv.1	-	1	923	c.906C>T	c.(904-906)ccC>ccT	p.P302P		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	302	NACHT.						ATP binding	p.P302P(2)|p.E301G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTTTCAGCAAGGGCTCCAGAT	0.547000														51			46		0	0	0.014410	0	0
RB1	5925	broad.mit.edu	37	13	48937001	48937001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:48937001C>T	uc001vcb.3	+	7	935	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	257					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.Q257fs*12(4)|p.Q257*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGCGAGGTCAGAACAGGAG	0.343000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				10			28		0	0	0.005443	0	0
MLIP	90523	broad.mit.edu	37	6	53989384	53989384	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:53989384C>T	uc011dxa.2	+	2	399	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MLIP_uc003pcf.2_Silent_p.F111F|MLIP_uc003pcg.4_Silent_p.F111F|MLIP_uc003pch.4_Silent_p.F49F|MLIP_uc011dwz.1_Silent_p.F70F	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	111						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAAGGGAATTCGAAGCAAACA	0.453000														53			56		0	0	0.014410	0	0
COL5A1	1289	broad.mit.edu	37	9	137657545	137657545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:137657545G>A	uc004cfe.3	+	20	2435	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	685	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGTCTGCTTGGGCCGAAGGG	0.627000														45			28		0	0	0.003755	0	0
RHBDL2	54933	broad.mit.edu	37	1	39361666	39361666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:39361666C>T	uc010oio.1	-	4	828	c.824G>A	c.(823-825)gGa>gAa	p.G275E	RHBDL2_uc010oin.1_Missense_Mutation_p.G195E|RHBDL2_uc001ccu.1_Missense_Mutation_p.G195E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	195					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AAAATAGCCTCCCATCAGAGC	0.428000														18			12		0	0	0.004007	0	0
ZNF644	84146	broad.mit.edu	37	1	91405082	91405082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:91405082G>A	uc001dnw.3	-	2	2112	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.S610L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACATGATGATGAATGCAAGTA	0.348000														40			31		0	0	0.008361	0	0
PHLPP1	23239	broad.mit.edu	37	18	60608997	60608997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:60608997C>T	uc021ule.1	+	10	3252	c.3007C>T	c.(3007-3009)Cca>Tca	p.P1003S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1003					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGCCTTCCTCCAGCCACGCT	0.448000														11			13		0	0	0.003163	0	0
FAM73A	374986	broad.mit.edu	37	1	78309059	78309059	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:78309059C>T	uc010ork.2	+	7	995	c.963C>T	c.(961-963)atC>atT	p.I321I	FAM73A_uc001dhx.3_Silent_p.I321I|FAM73A_uc010orl.2_Silent_p.I283I|FAM73A_uc001dhy.1_Silent_p.I110I	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	321						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTTGAGCATCGCATCCACGG	0.413000														27			17		0	0	0.007413	0	0
SDS	10993	broad.mit.edu	37	12	113835197	113835197	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:113835197C>T	uc001tvg.3	-	6	548	c.426_splice	c.e6-1	p.W142_splice	SDS_uc001tvh.1_Splice_Site_p.W142_splice	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	142					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGTGGCCTTCCCTGGAGGGTG	0.657000														14			16		0	0	0.003163	0	0
NBPF10	100132406	broad.mit.edu	37	1	144618163	144618163	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:144618163C>T	uc009wig.1	+	4	548	c.354C>T	c.(352-354)tcC>tcT	p.S118S	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.S51S|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	120										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGATGCCTCCCGCTCATTGA	0.547000														279			25		0	0	0.003755	0	0
TNXB	7148	broad.mit.edu	37	6	32030254	32030254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:32030254C>T	uc003nzl.2	-	19	7050	c.6848G>A	c.(6847-6849)gGa>gAa	p.G2283E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2353	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCATCCTTTCCTGGGGCTGC	0.582000														219			223		0	0	0.014410	0	0
MFSD4	148808	broad.mit.edu	37	1	205561299	205561299	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:205561299T>C	uc001hcv.4	+	6	1267	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	MFSD4_uc010prk.2_Missense_Mutation_p.L307P|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.L339P|U6_uc021pic.1_5'Flank	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	394					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGGTGCTGCTTATTTTCTCC	0.597000											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			24		0	0	0.014323	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656647	40656647	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:40656647A>C	uc002rrx.3	-	0	798	c.774T>G	c.(772-774)ttT>ttG	p.F258L	SLC8A1_uc002rry.3_Missense_Mutation_p.F258L|SLC8A1_uc002rsb.2_Missense_Mutation_p.F258L|SLC8A1_uc002rrz.3_Missense_Mutation_p.F258L|SLC8A1_uc002rsa.3_Missense_Mutation_p.F258L|SLC8A1_uc002rsd.4_Missense_Mutation_p.F258L|SLC8A1_uc010fan.1_Missense_Mutation_p.F258L|SLC8A1_uc002rsc.1_Missense_Mutation_p.F258L	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	258	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.L257L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATACTTGTAAAACAGAAGTC	0.448000														41			42		0	0	0.007835	0	0
OR4C13	283092	broad.mit.edu	37	11	49974726	49974726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:49974726C>T	uc010rhz.2	+	0	784	c.752C>T	c.(751-753)cCc>cTc	p.P251L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P251P(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCCTTTATACCCTGCATATTT	0.423000														49			40		0	0	0.014410	0	0
WDR72	256764	broad.mit.edu	37	15	54025359	54025359	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:54025359C>T	uc002acj.2	-	2	31	c.-11_splice	c.e2-1		WDR72_uc010bfi.1_Splice_Site	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.											NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGGCGAATCCTGACATACAA	0.458000														23			17		0	0	0.004990	0	0
ENPEP	2028	broad.mit.edu	37	4	111469471	111469471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:111469471C>T	uc003iab.4	+	13	2482	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	714					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAGCTATATCCTATGATTGA	0.368000														23			16		0	0	0.004007	0	0
MAPK8	5599	broad.mit.edu	37	10	49634038	49634038	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:49634038T>A	uc001jgp.3	+	6	845	c.796T>A	c.(796-798)Tat>Aat	p.Y266N	MAPK8_uc001jgn.3_Missense_Mutation_p.Y266N|MAPK8_uc001jgm.3_Missense_Mutation_p.Y266N|MAPK8_uc001jgo.3_Missense_Mutation_p.Y266N|MAPK8_uc001jgq.3_Missense_Mutation_p.Y266N|MAPK8_uc009xoa.3_Intron|MAPK8_uc021ppy.1_Missense_Mutation_p.Y266N|MAPK8_uc010qgk.2_Missense_Mutation_p.Y266N	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	266	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CAGACCTAAATATGCTGGATA	0.368000														27			26		0	0	0.004656	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140168112	140168112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140168112G>A	uc003lhb.2	+	0	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G746E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	783					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGTTGGGGAGCTGGTCG	0.652000														9			14		0	0	0.001855	0	0
UROC1	131669	broad.mit.edu	37	3	126224817	126224817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:126224817C>T	uc010hsi.2	-	6	694	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	UROC1_uc003eiz.2_Missense_Mutation_p.G214S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	214					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCTGGGGACCGATGTAGCAG	0.662000														19			22		0	0	0.003954	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190956	185190956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:185190956G>A	uc010hyf.3	+	11	2128	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	MAP3K13_uc011brt.2_Missense_Mutation_p.E406K|MAP3K13_uc011bru.2_Missense_Mutation_p.E469K|MAP3K13_uc003fpi.3_Missense_Mutation_p.E613K|MAP3K13_uc010hyg.3_Missense_Mutation_p.E303K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	613					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCCAGCCCAGGAAAATTCACC	0.532000														114			94		0	0	0.014410	0	0
PDE1C	5137	broad.mit.edu	37	7	31815313	31815313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:31815313G>A	uc003tcm.2	-	16	2386	c.1925C>T	c.(1924-1926)cCa>cTa	p.P642L	PDE1C_uc003tcn.1_Missense_Mutation_p.P642L|PDE1C_uc003tco.2_Missense_Mutation_p.P702L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	642					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCTGGTGCTTGGGGCTGGTGA	0.488000														15			10		0	0	0.008291	0	0
BTNL8	79908	broad.mit.edu	37	5	180374621	180374621	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:180374621C>T	uc003mmp.3	+	3	1017	c.783C>T	c.(781-783)ttC>ttT	p.F261F	BTNL8_uc003mmq.3_Silent_p.F261F|BTNL8_uc010jll.3_Silent_p.F261F|BTNL8_uc011dhg.2_Silent_p.F136F|BTNL8_uc010jlm.3_Silent_p.F145F|BTNL8_uc011dhh.2_Silent_p.F77F	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	261						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAATTCCAGTGTAAGC	0.493000														112			97		0	0	0.014410	0	0
KDR	3791	broad.mit.edu	37	4	55956127	55956127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:55956127C>T	uc003has.3	-	22	3490	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	KDR_uc003hat.1_Missense_Mutation_p.G1063E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1063	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTACATCTCCTTTTCTGAC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				25			22		0	0	0.003330	0	0
TPSD1	23430	broad.mit.edu	37	16	1306584	1306584	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:1306584C>T	uc002clb.1	+	1	159	c.150C>T	c.(148-150)ccC>ccT	p.P50P	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	50	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCAAGTGGCCCTGGCAGGTGA	0.692000														35			37		0	0	0.007835	0	0
CDCP2	200008	broad.mit.edu	37	1	54605583	54605583	+	Silent	SNP	C	T	T	rs149351262	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:54605583C>T	uc001cwv.1	-	3	1808	c.960G>A	c.(958-960)gcG>gcA	p.A320A		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	320	CUB 3.					extracellular region		p.L319M(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CATCGAAGGCCGCCAGATGGT	0.632000														10			13		0	0	0.013537	0	0
CDH18	1016	broad.mit.edu	37	5	19473405	19473405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:19473405C>T	uc003jgd.3	-	12	2837	c.2303G>A	c.(2302-2304)gGa>gAa	p.G768E	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.G768E|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCCCAGTCTCCAAGGTAGTG	0.448000														30			25		0	0	0.003954	0	0
OR6B3	150681	broad.mit.edu	37	2	240984890	240984890	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:240984890G>A	uc010zoe.2	-	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGCCAGAATGAAATCCACCA	0.572000														16			10		0	0	0.006214	0	0
FBN3	84467	broad.mit.edu	37	19	8151158	8151158	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:8151158A>T	uc002mjf.3	-	53	6823	c.6806T>A	c.(6805-6807)gTc>gAc	p.V2269D	FBN3_uc002mje.3_Missense_Mutation_p.V108D	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2269	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCGGTGTTGACACAGCGGCC	0.642000														49			44		0	0	0.014410	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209949039	209949040	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209949039_209949040GG>AT	uc001hho.3	+	10	1431_1432	c.1011_1012GG>AT	c.(1009-1014)agggag>agATag	p.E338*	TRAF3IP3_uc001hhm.2_Nonsense_Mutation_p.E338*|TRAF3IP3_uc001hhn.3_Nonsense_Mutation_p.E318*|TRAF3IP3_uc009xcr.3_Nonsense_Mutation_p.E338*	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	338						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCCAGCACAGGGAGCTGGAGAG	0.609000														44			18		0	0	0.004672	0	0
PADI3	51702	broad.mit.edu	37	1	17596805	17596805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:17596805G>A	uc001bai.3	+	6	770	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	244					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.G244R(4)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCGCTTGCATGGGGATGAGGA	0.587000														36			36		0	0	0.004289	0	0
CHKA	1119	broad.mit.edu	37	11	67821482	67821482	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:67821482G>A	uc001onj.3	-	11	1561	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CHKA_uc001onk.3_Silent_p.F431F	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	449					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TCTTCTGGTGGAAATAGGCAT	0.587000														6			7		0	0	0.003080	0	0
DNM2	1785	broad.mit.edu	37	19	10940944	10940944	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:10940944C>T	uc002mpt.2	+	19	2623	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.S811S|DNM2_uc010dxl.2_Silent_p.S811S|DNM2_uc002mpu.2_Silent_p.S807S|DNM2_uc002mpv.2_Silent_p.S807S|DNM2_uc002mpw.3_Silent_p.S540S|DNM2_uc002mpx.1_Silent_p.S167S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	811	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAATCCCATCCCGGCCTGGAC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL									50			32		0	0	0.006230	0	0
C8orf58	541565	broad.mit.edu	37	8	22459810	22459810	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:22459810C>T	uc003xce.3	+	4	984	c.864C>T	c.(862-864)tcC>tcT	p.S288S	C8orf58_uc011kzl.2_Silent_p.S288S|C8orf58_uc003xcf.3_Silent_p.S288S|KIAA1967_uc003xch.3_5'Flank|KIAA1967_uc003xci.3_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA.	288										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACTTGCCATCCTCCCAGGGAC	0.652000														10			7		0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228528905	228528905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:228528905G>A	uc009xez.1	+	72	17851	c.17807G>A	c.(17806-17808)cGa>cAa	p.R5936Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R5936Q|OBSCN_uc001hsr.1_Missense_Mutation_p.R565Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5936	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCCCCGGCGAGACTCCCGC	0.662000														47			15		0	0	0.004007	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950138	96950138	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:96950138G>A	uc002svu.3	-	30	4482	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	SNRNP200_uc002svt.3_Silent_p.L60L|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1450	Helicase ATP-binding 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCACCACGAAGAGGTTGATGT	0.562000														22			17		0	0	0.008871	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001314	13001315	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:13001314_13001315CC>TT	uc001auq.2	-	2	454_455	c.368_369GG>AA	c.(367-369)ggg>gAA	p.G123E	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	123								p.R122L(1)|p.G123W(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGAAGCACCCACGGGCCAT	0.495000														102			39		0	0	0.004672	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98828297	98828297	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:98828297C>T	uc003yia.3	+	3	726	c.570C>T	c.(568-570)gcC>gcT	p.A190A	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	243					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			AACGCGCAGCCTGGATCATCC	0.328000														45			33		0	0	0.012213	0	0
NEBL	10529	broad.mit.edu	37	10	21102879	21102879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:21102879G>A	uc001iqi.3	-	22	2732	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	779					regulation of actin filament length		actin binding|structural constituent of muscle	p.H779Y(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTGAAATATGATTTTGTGCT	0.388000														24			21		0	0	0.002780	0	0
RPH3AL	9501	broad.mit.edu	37	17	171067	171067	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:171067T>A	uc002fre.2	-	3	560	c.217A>T	c.(217-219)Atc>Ttc	p.I73F	RPH3AL_uc010vpy.2_Missense_Mutation_p.I73F|RPH3AL_uc021tmx.1_Missense_Mutation_p.I73F|RPH3AL_uc002frf.2_Missense_Mutation_p.I73F|RPH3AL_uc010cjl.2_Missense_Mutation_p.I73F	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	73	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCTCACCCGATTCTCTGCTGC	0.682000														33			38		0	0	0.010771	0	0
SPR	6697	broad.mit.edu	37	2	73118625	73118625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:73118625G>A	uc002sik.2	+	2	795	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	249					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						GGAAAAGGACGAGTTCAAGTC	0.517000														40			25		0	0	0.004656	0	0
ABP1	26	broad.mit.edu	37	7	150554372	150554372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:150554372G>A	uc003why.1	+	2	5032	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	ABP1_uc003whz.1_Missense_Mutation_p.G272R|ABP1_uc003wia.1_Missense_Mutation_p.G272R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	272					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGGGGGCAAGGGGCATGACAG	0.662000														7			4		0	0	0.009096	0	0
MYO1E	4643	broad.mit.edu	37	15	59510172	59510172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:59510172G>A	uc002aga.3	-	9	1397	c.1025C>T	c.(1024-1026)aCc>aTc	p.T342I		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	342	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TACGTTGAGGGTCACGTGGAT	0.527000														55			39		0	0	0.005524	0	0
BTC	685	broad.mit.edu	37	4	75673343	75673343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:75673343G>A	uc003hig.2	-	4	792	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	149	Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTCTTTTACGACGTTTCCGA	0.358000														19			11		0	0	0.013537	0	0
HABP2	3026	broad.mit.edu	37	10	115343962	115343962	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:115343962G>A	uc001lai.4	+	10	1396	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	HABP2_uc021pyr.1_Silent_p.V405V|HABP2_uc010qrz.1_Non-coding_Transcript	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	431	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.Y430Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCAAATACGTGAAGACTGTGT	0.507000														28			22		0	0	0.012319	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915864	77915864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:77915864G>A	uc002jxj.3	-	10	2166	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W	TBC1D16_uc002jxh.3_Missense_Mutation_p.R322W|TBC1D16_uc002jxi.3_Missense_Mutation_p.R309W	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	684						intracellular	Rab GTPase activator activity	p.R684G(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CTCACCTTCCGGAGAACGAGC	0.647000														7			8		0	0	0.003080	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367821	99367821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:99367821G>A	uc003urv.2	-	4	463	c.356C>T	c.(355-357)tCt>tTt	p.S119F	CYP3A4_uc003urw.2_Missense_Mutation_p.S119F|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	119					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTCAGCTATAGAGATGGCACT	0.403000														22			21		0	0	0.012319	0	0
ABCC8	6833	broad.mit.edu	37	11	17449913	17449913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:17449913C>T	uc001mnc.3	-	13	2089	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	655					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCCGACAATCCTCCCGGGCT	0.662000														96			105		0	0	0.014410	0	0
BEST3	144453	broad.mit.edu	37	12	70049327	70049327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:70049327G>A	uc001svg.3	-	9	1594	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.P243L|BEST3_uc010stm.2_Missense_Mutation_p.P350L	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	456						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTTCCTTCTGGGAAGCAGGA	0.592000														31			25		0	0	0.002780	0	0
LMO3	55885	broad.mit.edu	37	12	16704206	16704206	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:16704206C>G	uc010shz.2	-	5	679	c.454G>C	c.(454-456)Gac>Cac	p.D152H	LMO3_uc001rdj.2_Missense_Mutation_p.D141H|LMO3_uc010shy.2_Missense_Mutation_p.D148H|LMO3_uc001rdk.2_Missense_Mutation_p.D130H|LMO3_uc001rdl.2_Missense_Mutation_p.D130H|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Missense_Mutation_p.D130H|LMO3_uc001rdm.2_Missense_Mutation_p.D130H|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TCCTCGTAGTCCGTCTGGCAA	0.348000														25			19		0	0	0.008871	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11868860	11868860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:11868860G>A	uc002dbk.3	-	6	793	c.595C>T	c.(595-597)Cat>Tat	p.H199Y	ZC3H7A_uc002dbl.3_Missense_Mutation_p.H199Y|ZC3H7A_uc002dbm.2_Missense_Mutation_p.H199Y	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	199						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCACAGAATGGTTCAAAGCC	0.373000														25			20		0	0	0.014323	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98206009	98206009	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:98206009T>C	uc010yvc.1	-	0	420	c.140A>G	c.(139-141)aAt>aGt	p.N47S	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA.	47																	GTCTCTCTTATTGGCGTCATA	0.527000														7			3		0	0	0.004672	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007573	32007573	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:32007573G>A	uc003nze.2	+	5	806	c.699G>A	c.(697-699)aaG>aaA	p.K233K	CYP21A2_uc003nzf.2_Silent_p.K203K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	232			R -> K (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCATAGAGAAGAGGGATCACA	0.617000														327			61		0	0	0.014410	0	0
ZNF816	125893	broad.mit.edu	37	19	53432252	53432252	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:53432252G>A	uc010eqj.3	-	3	816	c.606C>T	c.(604-606)acC>acT	p.T202T	ZNF816_uc002qaj.1_Silent_p.T132T|ZNF816_uc002qak.2_Silent_p.T186T	NM_001202473	NP_001189402	Q0VGE8	ZN816_HUMAN	Homo sapiens ZNF816-ZNF321P readthrough (ZNF816-ZNF321P), mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAGAAATACGGGTTTTGGGAC	0.343000														26			27		0	0	0.008361	0	0
FRMD3	257019	broad.mit.edu	37	9	85964641	85964641	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:85964641C>T	uc004ams.2	-	3	529	c.327G>A	c.(325-327)gtG>gtA	p.V109V	FRMD3_uc004amr.1_Silent_p.V109V|FRMD3_uc022bja.1_Silent_p.V65V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	109	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTAGAATTTCACTCTAAAGC	0.398000														9			6		0	0	0.001984	0	0
FREM2	341640	broad.mit.edu	37	13	39263707	39263707	+	Silent	SNP	G	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:39263707G>C	uc001uwv.3	+	0	2535	c.2226G>C	c.(2224-2226)gtG>gtC	p.V742V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	742					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTACACAGTGACTCAGTCCC	0.542000														31			11		0	0	0.013537	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414325	22414325	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:22414325C>T	uc001yuf.3	+	0	864	c.624C>T	c.(622-624)acC>acT	p.T208T	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCATTTATACCCTTCATAACC	0.393000														30			13		0	0	0.013537	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589140	140589140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140589140C>T	uc003liz.3	+	0	850	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGTCCCCTCCCAGGTCTGG	0.507000														30			16		0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92523262	92523263	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:92523262_92523263GT>AG	uc001pdj.4	+	6	4506_4507	c.4489_4490GT>AG	c.(4489-4491)gtt>AGt	p.V1497S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1497	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCTACACTGTTCATAGCAGC	0.510000										TCGA Ovarian(4;0.039)				162			161		0	0	0.004672	0	0
KIF14	9928	broad.mit.edu	37	1	200523698	200523698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:200523698C>T	uc010ppk.1	-	28	4904	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	KIF14_uc010ppj.1_Missense_Mutation_p.E998K	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1489	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTTGGTATTCAAAGTTTTCT	0.303000														43			12		0	0	0.001855	0	0
CDH6	1004	broad.mit.edu	37	5	31323113	31323113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:31323113G>A	uc003jhe.2	+	11	2431	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	691					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R690M(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTACGAAGGGACATTGTGCC	0.498000														17			14		0	0	0.001855	0	0
FGF3	2248	broad.mit.edu	37	11	69631151	69631151	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:69631151G>A	uc001oph.3	-	1	752	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	87					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GACCCCTGATGGCCACAATGC	0.627000														30			32		0	0	0.004289	0	0
ZNF98	148198	broad.mit.edu	37	19	22575763	22575763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:22575763G>A	uc002nqt.2	-	3	396	c.274C>T	c.(274-276)Caa>Taa	p.Q92*		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAAAGGTCTTGGGCAAAATAA	0.269000														1			3		0	0	0.009096	0	0
C15orf2	23742	broad.mit.edu	37	15	24921891	24921891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:24921891C>T	uc001ywo.3	+	0	1351	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	293	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P293P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTAGGCTTGCCGATTCCGCT	0.617000														23			26		0	0	0.007291	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803040	12803040	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:12803040C>T	uc001ilo.3	+	3	628	c.393C>T	c.(391-393)gcC>gcT	p.A131A	CAMK1D_uc001iln.3_Silent_p.A131A	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	131	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTGGACGCCGTGTACTATC	0.572000														71			66		0	0	0.014410	0	0
TRIM29	23650	broad.mit.edu	37	11	120008301	120008301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:120008301C>T	uc001pwz.3	-	0	563	c.439G>A	c.(439-441)Gag>Aag	p.E147K	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	147					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGCCGGGTCTCCCCGGGCTCC	0.632000														49			43		0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21185901	21185901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:21185901C>T	uc001iqi.3	-	1	536	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	47					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTAATGAGTTCCGTGCATTTT	0.358000														44			30		0	0	0.003271	0	0
ANKH	56172	broad.mit.edu	37	5	14749296	14749296	+	Silent	SNP	A	G	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:14749296A>G	uc003jfm.4	-	5	1138	c.807T>C	c.(805-807)agT>agC	p.S269S		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	269					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGCTGCAGAACTGCCACCAA	0.547000														27			17		0	0	0.006122	0	0
CSMD2	114784	broad.mit.edu	37	1	34006186	34006186	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34006186C>T	uc001bxm.1	-	59	9747	c.9570G>A	c.(9568-9570)ctG>ctA	p.L3190L	CSMD2_uc001bxn.1_Silent_p.L3046L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3166	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACACCGCGGGCAGGGAGAGCT	0.582000														33			30		0	0	0.009535	0	0
TGIF2	60436	broad.mit.edu	37	20	35219682	35219682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:35219682C>T	uc021wcv.1	+	2	776	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TGIF2_uc021wcu.1_Missense_Mutation_p.P188S|TGIF2_uc002xfn.3_Missense_Mutation_p.P188S|TGIF2_uc021wcw.1_Missense_Mutation_p.P188S|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	188	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACCCACACCCCCAGAGCAGGA	0.612000														37			30		0	0	0.009535	0	0
OBSCN	84033	broad.mit.edu	37	1	228505874	228505874	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:228505874G>A	uc009xez.1	+	53	14175	c.14131_splice	c.e53+1	p.V4711_splice	OBSCN_uc001hsn.3_Splice_Site_p.V4711_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4711	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCTTCCAGGGTGCGTTGTC	0.637000														31			11		0	0	0.010729	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195474	80195474	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:80195474C>T	uc002kea.3	+	3	978	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SLC16A3_uc021ufm.1_Silent_p.F276F|SLC16A3_uc002keb.3_Silent_p.F276F|SLC16A3_uc002kec.3_Silent_p.F276F|SLC16A3_uc002ked.3_Silent_p.F276F|SLC16A3_uc021ufn.1_Silent_p.F276F|SLC16A3_uc021ufo.1_Silent_p.F276F	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	276					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTGACATCTTCGCGCGGCCGG	0.662000														51			50		0	0	0.014410	0	0
LYST	1130	broad.mit.edu	37	1	235969062	235969062	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:235969062T>C	uc001hxj.2	-	5	3549	c.3374A>G	c.(3373-3375)gAa>gGa	p.E1125G	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E1125G	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1125					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAACTCCAATTCCATCTTCTG	0.348000														19			56		0	0	0.014410	0	0
PALM	5064	broad.mit.edu	37	19	736044	736044	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:736044G>A	uc002lpm.1	+	6	662	c.468G>A	c.(466-468)ctG>ctA	p.L156L	PALM_uc002lpn.1_Silent_p.L156L|PALM_uc010xfu.1_Silent_p.L21L	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	156					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACACGCCCCTGAGGACGGTTG	0.652000														60			50		0	0	0.014410	0	0
WDR24	84219	broad.mit.edu	37	16	736754	736754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:736754C>T	uc002ciz.1	-	2	2082	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	571										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGGTTGCGGCCAAGCTCTCG	0.662000														23			21		0	0	0.004656	0	0
CXorf22	170063	broad.mit.edu	37	X	35993925	35993925	+	Missense_Mutation	SNP	C	T	T	rs141343030	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:35993925C>T	uc004ddj.3	+	14	2674	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	870								p.R870W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACATGTTTTCGGGGGACAGT	0.433000														1			54		0	0	0.014410	0	0
MLST8	64223	broad.mit.edu	37	16	2257060	2257060	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2257060G>A	uc002coy.3	+	4	760	c.369G>A	c.(367-369)cgG>cgA	p.R123R	MLST8_uc002cpc.3_Silent_p.R123R|MLST8_uc010uvx.2_Silent_p.R57R|MLST8_uc002cpd.3_Silent_p.R57R|MLST8_uc002cpb.3_Silent_p.R122R|MLST8_uc002coz.3_Silent_p.R123R|MLST8_uc002cpe.3_Silent_p.R123R|MLST8_uc002cpf.3_Silent_p.R123R|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	123					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						AGTGCCAGCGGATCTTCCAGG	0.667000														37			30		0	0	0.013726	0	0
SOD3	6649	broad.mit.edu	37	4	24801434	24801434	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:24801434C>T	uc003gqz.3	+	1	496	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SOD3_uc021xmy.1_Silent_p.F97F	NM_003102	NP_003093	P08294	SODE_HUMAN	Homo sapiens superoxide dismutase 3, extracellular (SOD3), mRNA.	97					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				ACGCCTTCTTCGCCCTGGAGG	0.736000														1			4		0	0	0.009096	0	0
AGBL2	79841	broad.mit.edu	37	11	47726120	47726120	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:47726120G>A	uc001ngg.3	-	6	863	c.561C>T	c.(559-561)gtC>gtT	p.V187V	AGBL2_uc010rhq.1_Silent_p.V149V|AGBL2_uc001ngh.1_Silent_p.V131V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	187					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTTCCTTGATGACCTCACATT	0.413000														27			23		0	0	0.014323	0	0
C17orf104	284071	broad.mit.edu	37	17	42745546	42745546	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42745546T>C	uc002iha.3	+	4	2487	c.2267T>C	c.(2266-2268)aTt>aCt	p.I756T	C17orf104_uc002igy.1_Missense_Mutation_p.I590T|C17orf104_uc002igz.3_Missense_Mutation_p.I590T|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	756										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GAACTTCATATTCGTCTAGAA	0.363000														19			12		0	0	0.002450	0	0
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:1497609C>T	uc002qwr.3	+	10	1890	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.R602C|TPO_uc002qwx.3_Missense_Mutation_p.R545C|TPO_uc002qwu.3_Missense_Mutation_p.R545C|TPO_uc010yio.2_Missense_Mutation_p.R429C|TPO_uc010yip.2_Missense_Mutation_p.R602C|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572000														10			5		0	0	0.000602	0	0
EYA2	2139	broad.mit.edu	37	20	45702837	45702837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:45702837C>T	uc002xsm.3	+	6	898	c.524C>T	c.(523-525)cCc>cTc	p.P175L	EYA2_uc010ghp.3_Missense_Mutation_p.P175L|EYA2_uc002xsq.3_Missense_Mutation_p.P175L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	175					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCCAGTACCCCCAGTATTAC	0.592000														29			37		0	0	0.009718	0	0
CNOT4	4850	broad.mit.edu	37	7	135047860	135047860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:135047860G>A	uc011kpy.2	-	11	2250	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	CNOT4_uc011kpz.2_Missense_Mutation_p.A637V|CNOT4_uc003vst.3_Missense_Mutation_p.A569V|CNOT4_uc003vss.3_Missense_Mutation_p.A566V	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	309					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTGTGAGGGCCTGAAGGGA	0.532000														61			51		0	0	0.014410	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758666	121758666	+	Silent	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:121758666G>A	uc003ksw.1	+	3	440	c.234G>A	c.(232-234)cgG>cgA	p.R78R	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.R78R|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.R125R|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.R78R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	78					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTGAAGCGGGTTTCGCCAC	0.478000														17			21		0	0	0.012319	0	0
CPT1C	126129	broad.mit.edu	37	19	50200633	50200633	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50200633C>T	uc010eng.3	+	3	508	c.192C>T	c.(190-192)ttC>ttT	p.F64F	CPT1C_uc002ppl.4_Silent_p.F64F|CPT1C_uc002ppi.3_5'UTR|CPT1C_uc002ppk.3_Silent_p.F64F|CPT1C_uc010enh.3_Silent_p.F64F|CPT1C_uc002ppj.3_Silent_p.F64F|CPT1C_uc010ybc.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	64					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTTGGCTTTTCCTCTTCAGTG	0.547000														27			23		0	0	0.012319	0	0
NTNG1	22854	broad.mit.edu	37	1	107867445	107867445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:107867445G>A	uc001dvh.4	+	2	1506	c.788G>A	c.(787-789)aGg>aAg	p.R263K	NTNG1_uc001dvc.4_Missense_Mutation_p.R263K|NTNG1_uc010out.2_Missense_Mutation_p.R263K|NTNG1_uc001dvf.4_Missense_Mutation_p.R263K|NTNG1_uc001dvd.1_Missense_Mutation_p.R263K	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	263	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGACCTGAGGATAAGGCTG	0.478000														15			17		0	0	0.006122	0	0
HSPA12B	116835	broad.mit.edu	37	20	3722942	3722942	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:3722942C>T	uc002wjd.3	+	3	295	c.153C>T	c.(151-153)gtC>gtT	p.V51V	HSPA12B_uc010zqj.2_Intron|HSPA12B_uc010zqi.2_Silent_p.V51V|HSPA12B_uc002wje.3_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	51							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AACCCGAGGTCCGAGCCCCCC	0.592000														16			19		0	0	0.012319	0	0
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:45262699G>A	uc003jok.3	-	7	2022	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TGTGTACACCGGTGGAGATTG	0.577000														26			22		0	0	0.014323	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664704	160664704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:160664704C>T	uc003qtf.3	-	6	1353	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	393					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGAGGATGATCATGAAGGCAG	0.532000														9			26		0	0	0.006320	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766069	14766069	+	Silent	SNP	C	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:14766069C>T	uc001rcd.3	-	26	3341	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1068					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGTGCTCTCCTTGTCTGTGG	0.438000														46			55		0	0	0.014410	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119958	103119959	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:103119958_103119959delAT	uc002tbz.4	+	2	1229_1230	c.772_773delAT	c.(772-774)atafs	p.I258fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	258					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTGAAGACATAGAAACTGTC	0.356													---	16	---	---	15	---					
ERMP1	79956	broad.mit.edu	37	9	5833080	5833081	+	Splice_Site	INS	-	CGCCGCCGA	CGCCGCCGA			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:5833080_5833081insCGCCGCCGA	uc003zjm.1	-	1	1	c.-53_splice	c.e1-1		ERMP1_uc022bdc.1_5'Flank|ERMP1_uc022bdd.1_Splice_Site|ERMP1_uc010mhs.1_Splice_Site|ERMP1_uc003zjn.1_Splice_Site	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.						proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACAGCCCCGgccgccgccgacg	0.713											OREG0019090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	3	---	---	3	---					
ZNF507	22847	broad.mit.edu	37	19	32845455	32845456	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:32845455_32845456insT	uc002nte.3	+	2	1991_1992	c.1719_1720insT	c.(1717-1722)gaattgfs	p.E573fs	ZNF507_uc002ntc.2_Frame_Shift_Ins_p.E573fs|ZNF507_uc010xrn.1_Frame_Shift_Ins_p.E573fs|ZNF507_uc002ntd.3_Frame_Shift_Ins_p.E573fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTAGGCAGGAATTGTCAGATGG	0.441													---	23	---	---	10	---