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
GCK	2645	broad.mit.edu	37	7	44192912	44192912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:44192912G>A	uc003tkl.2	-	1	666	c.196C>T	c.(196-198)Cca>Tca	p.P66S	GCK_uc003tkj.1_Missense_Mutation_p.P65S|GCK_uc003tkk.1_Missense_Mutation_p.P67S	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	66					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGCCTTCTGGGGTGGAGCGC	0.617000														280			33		0	0	0.000953801	0	0
FAM83D	81610	broad.mit.edu	37	20	37580865	37580865	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:37580865T>C	uc002xjg.3	+	3	1591	c.1550T>C	c.(1549-1551)gTg>gCg	p.V517A		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	487					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAAGGCTCTGTGGCAAGCTCC	0.517000														55			11		0	0	0.000673444	0	0
KSR2	283455	broad.mit.edu	37	12	118199021	118199021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:118199021G>A	uc001two.2	-	3	749	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	261	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P293S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCGCGGCGGGGTGCGGACC	0.746000														102			13		0	0	0.000308642	0	0
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:145573764C>T	uc003ijs.2	+	1	967	c.287C>T	c.(286-288)tCt>tTt	p.S96F	HHIP_uc003ijr.2_Missense_Mutation_p.S96F	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.F95C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343000														92			58		0	0	0.000781405	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504939	95504939	+	Silent	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:95504939G>C	uc003ygo.2	-	20	4820	c.4749C>G	c.(4747-4749)acC>acG	p.T1583T	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1583					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGTAGTCTTGGTTCTTCCTG	0.368000														124			10		0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:137814319G>A	uc002tva.1	+	1	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000														135			12		0	0	0.000978159	0	0
FSTL5	56884	broad.mit.edu	37	4	162697113	162697113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:162697113G>A	uc003iqh.3	-	4	959	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	FSTL5_uc003iqi.3_Missense_Mutation_p.R174W|FSTL5_uc010iqv.3_Missense_Mutation_p.R174W	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	175	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCTTCTTCCGAGATATGTCG	0.303000														100			24		0	0	0.00106085	0	0
CNOT4	4850	broad.mit.edu	37	7	135047869	135047869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:135047869G>A	uc011kpy.2	-	11	2241	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	CNOT4_uc011kpz.2_Missense_Mutation_p.S634F|CNOT4_uc003vst.3_Missense_Mutation_p.S566F|CNOT4_uc003vss.3_Missense_Mutation_p.S563F	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						GGCCTGAAGGGATTTTAGCCA	0.522000														162			26		0	0	0.001512	0	0
C11orf45	219833	broad.mit.edu	37	11	128774431	128774431	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:128774431G>A	uc001qeu.3	-	1	225	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.L11L|C11orf45_uc001qev.3_Silent_p.L11L	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	11						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		Gtgctactcaggtgtgcactg	0.587000														56			6		0	0	0.00116845	0	0
KANK4	163782	broad.mit.edu	37	1	62740733	62740733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:62740733C>T	uc001dah.4	-	2	420	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	15										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTTTCTCTTCATCCCCCTGA	0.438000														129			24		0	0	0.00127121	0	0
AFF2	2334	broad.mit.edu	37	X	148038127	148038127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:148038127G>A	uc004fcp.3	+	10	3031	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D	AFF2_uc004fcq.3_Missense_Mutation_p.G841D|AFF2_uc004fcr.3_Missense_Mutation_p.G812D|AFF2_uc011mxb.2_Missense_Mutation_p.G816D|AFF2_uc004fcs.3_Missense_Mutation_p.G818D|AFF2_uc011mxc.2_Missense_Mutation_p.G492D	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	851					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTAAGGGCAAACGTAAG	0.517000														30			11		0	0	0.00136819	0	0
CAST	831	broad.mit.edu	37	5	96065383	96065383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:96065383C>T	uc011cuo.1	+	6	476	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CAST_uc003klt.3_Missense_Mutation_p.S85F|CAST_uc021ybr.1_Missense_Mutation_p.S146F|CAST_uc003klx.3_Missense_Mutation_p.S127F|CAST_uc003klz.1_Missense_Mutation_p.S85F|CAST_uc011cup.2_Missense_Mutation_p.S63F|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Missense_Mutation_p.S85F|CAST_uc021ybt.1_Missense_Mutation_p.S63F|CAST_uc011cut.2_Missense_Mutation_p.S63F|CAST_uc011cur.2_Missense_Mutation_p.S71F|CAST_uc011cus.2_Missense_Mutation_p.S85F|CAST_uc003kma.2_Missense_Mutation_p.S44F|CAST_uc003kmd.3_Missense_Mutation_p.S63F	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	85							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAGCAGTTTCCAGATCAGCT	0.413000														67			10		0	0	0.00185496	0	0
AKAP6	9472	broad.mit.edu	37	14	33004824	33004824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:33004824C>T	uc001wrq.3	+	2	559	c.389C>T	c.(388-390)tCc>tTc	p.S130F	AKAP6_uc010aml.3_Missense_Mutation_p.S127F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	130					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAGAGTTCTCCCTAAAGCTG	0.478000														81			10		0	0	0.000442599	0	0
KLHL1	57626	broad.mit.edu	37	13	70275875	70275875	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:70275875C>A	uc001vip.3	-	10	3000	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	KLHL1_uc010thm.2_Missense_Mutation_p.G675W	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	736					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCTCTCCCAATATTCAAG	0.303000														75			5		8.12818e-05	0.000293493	0.00198382	1	0
ABCC4	10257	broad.mit.edu	37	13	95858840	95858840	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:95858840G>A	uc001vmd.4	-	7	1226	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ABCC4_uc010afk.3_Silent_p.F369F|ABCC4_uc001vme.2_Silent_p.F369F|ABCC4_uc010tih.1_Silent_p.F294F|ABCC4_uc001vmf.2_Silent_p.F326F|ABCC4_uc010afl.1_Silent_p.F326F|ABCC4_uc010afm.1_Silent_p.F382F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	369	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.F368F(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGCTGAGGGGAAGAAGAGGG	0.547000														77			7		0	0	0.00198382	0	0
OR10R2	343406	broad.mit.edu	37	1	158450492	158450492	+	Silent	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:158450492T>G	uc010pik.2	+	0	825	c.825T>G	c.(823-825)gcT>gcG	p.A275A	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATGGCTGTGCTTCCTTCATCT	0.493000														77			6		0	0	0.00116845	0	0
CACNA1I	8911	broad.mit.edu	37	22	40075294	40075294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:40075294G>A	uc003ayc.3	+	31	5238	c.5238G>A	c.(5236-5238)atG>atA	p.M1746I	CACNA1I_uc003ayd.3_Missense_Mutation_p.M1711I|CACNA1I_uc003aye.3_Missense_Mutation_p.M1661I|CACNA1I_uc003ayf.3_Missense_Mutation_p.M1626I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1746					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACGCCGAGATGGATGCCGAGC	0.701000														6			6		0	0	0.00116845	0	0
WDFY3	23001	broad.mit.edu	37	4	85676507	85676507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:85676507G>A	uc003hpd.3	-	33	5879	c.5471C>T	c.(5470-5472)tCc>tTc	p.S1824F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1824						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTTCCGCTGGAGGCAGGAAC	0.428000														75			31		0	0	0.0024448	0	0
STAG1	10274	broad.mit.edu	37	3	136323168	136323168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:136323168C>T	uc003era.1	-	3	572	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	STAG1_uc003erb.1_Missense_Mutation_p.G94R|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.G94R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	94					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCACTTTTCCCCAGTTTCACC	0.418000														141			13		0	0	0.000308642	0	0
THSD7B	80731	broad.mit.edu	37	2	138169379	138169379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:138169379C>T	uc002tva.1	+	12	2803	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.R825*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCGCTTTCGAGCAGTAGC	0.507000														68			8		0	0	0.000157383	0	0
DUSP27	92235	broad.mit.edu	37	1	167096187	167096187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:167096187G>A	uc001geb.1	+	4	1835	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	607					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						GAACAAGGAGGAGGTGGTGGA	0.612000														34			4		0	0	0.000602214	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999051	112999051	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:112999051C>T	uc001ebx.3	+	5	1165	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	313						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		TGTGTTTTGCCAAACAGAGAG	0.493000														145			18		0	0	0.000566183	0	0
TIAM2	26230	broad.mit.edu	37	6	155450804	155450804	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:155450804C>T	uc003qqb.3	+	5	1720	c.447C>T	c.(445-447)tcC>tcT	p.S149S	TIAM2_uc003qqe.3_Silent_p.S149S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATTGCCTCCACCCCACCGG	0.577000														26			10		0	0	0.00136819	0	0
CHRM2	1129	broad.mit.edu	37	7	136700128	136700128	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:136700128G>A	uc003vtf.1	+	3	1139	c.516G>A	c.(514-516)gaG>gaA	p.E172E	CHRM2_uc003vtg.1_Silent_p.E172E|CHRM2_uc003vti.1_Silent_p.E172E|CHRM2_uc003vtm.1_Silent_p.E172E|CHRM2_uc003vtj.1_Silent_p.E172E|CHRM2_uc003vtk.1_Silent_p.E172E|CHRM2_uc003vtl.1_Silent_p.E172E|CHRM2_uc003vtn.1_Silent_p.E172E|CHRM2_uc003vto.1_Silent_p.E172E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E172E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	172					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.V171M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GAACTGTGGAGGATGGGGAGT	0.493000														133			15		0	0	0.000566183	0	0
DOCK9	23348	broad.mit.edu	37	13	99489772	99489772	+	Silent	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:99489772A>G	uc001vnt.2	-	38	4279	c.4224T>C	c.(4222-4224)ctT>ctC	p.L1408L	DOCK9_uc001vnw.2_Silent_p.L1407L|DOCK9_uc021rlw.1_Silent_p.L1407L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.L1408L|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Silent_p.L51L|DOCK9_uc010tin.1_Silent_p.L51L|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Silent_p.L100L|DOCK9_uc010tip.1_Silent_p.L118L|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Silent_p.L386L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1408					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAATAGAGAAAGCGTGTCCA	0.448000														37			8		0	0	0.000673444	0	0
RBM12	10137	broad.mit.edu	37	20	34242834	34242834	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:34242834G>A	uc021wcr.1	-	0	411	c.411C>T	c.(409-411)acC>acT	p.T137T	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.T137T|RBM12_uc002xds.3_Silent_p.T137T|RBM12_uc002xdr.3_Silent_p.T137T|RBM12_uc021wcq.1_Silent_p.T137T	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	137						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAACAGAAGTGGTGGCAGTAA	0.473000											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		119			21		0	0	0.000720815	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192355	123192355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:123192355C>T	uc003ieh.3	+	44	7721	c.7676C>T	c.(7675-7677)tCc>tTc	p.S2559F	KIAA1109_uc003iel.1_Missense_Mutation_p.S494F|KIAA1109_uc003iek.2_Missense_Mutation_p.S1178F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2559					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S2559F(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTACTATTTCCTGTCAGTCA	0.408000														275			44		0	0	0.000781405	0	0
KLC2	64837	broad.mit.edu	37	11	66031131	66031131	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:66031131G>A	uc010rov.1	+	6	996	c.753_splice	c.e6-1	p.R251_splice	KLC2_uc010row.1_Splice_Site_p.R251_splice|KLC2_uc001ohb.2_Splice_Site_p.R251_splice|KLC2_uc010rox.1_Splice_Site_p.R174_splice|KLC2_uc001ohc.2_Splice_Site_p.R251_splice|KLC2_uc001ohd.2_Splice_Site_p.R174_splice|KLC2_uc001ohe.1_Splice_Site_p.R112_splice	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	251					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTGCTCCCAGGGATCAGAACA	0.582000														33			7		0	0	0.000157383	0	0
ATP10A	57194	broad.mit.edu	37	15	25936910	25936910	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:25936910G>A	uc010ayu.3	-	14	3223	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1039					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			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)		CTGCCACCTGGATCATGCTGA	0.468000														208			52		0	0	0.000781405	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103076	55103076	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:55103076G>A	uc004due.3	+	2	211	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PAGE2B_uc022bxk.1_Silent_p.G53G	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	53										lung(3)	3						CACCTAGTGGGGAGATCGAAA	0.458000														19			8		0	0	0.000274275	0	0
SLC22A15	55356	broad.mit.edu	37	1	116574189	116574189	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:116574189C>T	uc001egb.4	+	5	1061	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	SLC22A15_uc001ega.2_3'UTR	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	311					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACTTTGATCCTGATGTTCAT	0.478000														116			7		0	0	0.00198382	0	0
COL4A1	1282	broad.mit.edu	37	13	110819513	110819513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:110819513C>T	uc001vqw.4	-	43	4063	c.3941G>A	c.(3940-3942)gGa>gAa	p.G1314E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1314	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTGAAATCCTGGAACTCC	0.537000														247			19		0	0	0.00152264	0	0
IQGAP2	10788	broad.mit.edu	37	5	75871584	75871584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:75871584C>T	uc003kek.3	+	4	670	c.448C>T	c.(448-450)Cac>Tac	p.H150Y		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	150	CH.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding	p.I149I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATATTGCATTCACGCACTGAG	0.289000														63			9		0	0	0.000978159	0	0
C3orf25	90288	broad.mit.edu	37	3	129130159	129130159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:129130159G>A	uc003emg.3	-	4	1040	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TTCTTGAGCGGACCCTTCAGG	0.572000														64			11		0	0	0.00185496	0	0
CASR	846	broad.mit.edu	37	3	121976000	121976000	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:121976000C>T	uc003eew.4	+	2	696	c.258C>T	c.(256-258)gcC>gcT	p.A86A	CASR_uc003eev.4_Silent_p.A86A	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	86					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGCCCAGCCCTTCTTCCCA	0.443000														88			12		0	0	0.000978159	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586625	115586625	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:115586625T>A	uc004eqi.3	+	11	1738	c.1607T>A	c.(1606-1608)cTt>cAt	p.L536H		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	536					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACGCCTATCCTTTTGATTGTA	0.338000														42			24		0	0	0.000720815	0	0
HEMK1	51409	broad.mit.edu	37	3	50615280	50615280	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:50615280G>A	uc003dau.3	+	6	934	c.638G>A	c.(637-639)tGg>tAg	p.W213*	HEMK1_uc003dav.3_Nonsense_Mutation_p.W213*	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	213					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GACAGGATTTGGATCATCCAC	0.557000														95			6		0	0	0.00198382	0	0
ZNF638	27332	broad.mit.edu	37	2	71576199	71576199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:71576199C>T	uc002shx.3	+	1	438	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	ZNF638_uc010fec.2_Missense_Mutation_p.L145F|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.L39F|ZNF638_uc002shz.3_Missense_Mutation_p.L39F|ZNF638_uc002shy.3_Missense_Mutation_p.L39F|ZNF638_uc002sia.3_Missense_Mutation_p.L39F|ZNF638_uc002sib.1_Missense_Mutation_p.L39F	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	39					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATCTATGGGTCTCCCAAGATT	0.498000														100			12		0	0	0.000978159	0	0
GALNT14	79623	broad.mit.edu	37	2	31135139	31135139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:31135139G>A	uc002rns.3	-	14	2105	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	GALNT14_uc002rnq.3_Missense_Mutation_p.P464S|GALNT14_uc010ymr.2_Missense_Mutation_p.P449S|GALNT14_uc002rnr.3_Missense_Mutation_p.P484S	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.	484	Ricin B-type lectin.					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)					GGGGCGCCAGGGAACAAGGTG	0.552000														71			19		0	0	0.00074312	0	0
GRIA1	2890	broad.mit.edu	37	5	153029900	153029900	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:153029900C>T	uc011dcy.2	+	3	528	c.501C>T	c.(499-501)gtC>gtT	p.V167V	GRIA1_uc003lva.4_Silent_p.V157V|GRIA1_uc003luy.4_Silent_p.V157V|GRIA1_uc003luz.4_Silent_p.V62V|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.V77V|GRIA1_uc011dcx.2_Silent_p.V88V|GRIA1_uc011dcz.2_Silent_p.V167V|GRIA1_uc010jia.1_Silent_p.V137V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	157					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E167Q(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCGTCCTGCAGAAAG	0.512000														49			11		0	0	0.00185496	0	0
KIAA0408	9729	broad.mit.edu	37	6	127765361	127765361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:127765361G>A	uc011ebs.2	-	5	2314	c.1978C>T	c.(1978-1980)Cgt>Tgt	p.R660C	KIAA0408_uc003qbc.3_Missense_Mutation_p.R660C|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Missense_Mutation_p.R71C|KIAA0408_uc003qbb.3_Missense_Mutation_p.R543C	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	660							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GAGGGGAGACGACGATTTGCT	0.502000														37			20		0	0	0.00047179	0	0
COL4A1	1282	broad.mit.edu	37	13	110828850	110828850	+	Silent	SNP	A	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:110828850A>C	uc001vqw.4	-	35	3101	c.2979T>G	c.(2977-2979)ggT>ggG	p.G993G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	993	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TACCTGGATCACCTTTAGGTC	0.512000														46			6		0	0	0.00198382	0	0
C3orf30	152405	broad.mit.edu	37	3	118865127	118865127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:118865127G>A	uc003ecb.1	+	0	131	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E31K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	31										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TAAGGGCCAGGAAGAAGACGA	0.567000														26			6		0	0	0.00116845	0	0
CALN1	83698	broad.mit.edu	37	7	71488740	71488740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:71488740C>T	uc003twb.4	-	4	794	c.403G>A	c.(403-405)Gat>Aat	p.D135N	CALN1_uc003twa.4_Missense_Mutation_p.D93N|CALN1_uc003twc.4_Missense_Mutation_p.D93N	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	93						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.E135K(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458000														101			19		0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89940674	89940674	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:89940674C>T	uc003kju.3	+	14	2982	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	962	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTTACTCCCTTCCAGATG	0.313000														67			5		0	0	0.000602214	0	0
CEP170	9859	broad.mit.edu	37	1	243364124	243364124	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:243364124G>A	uc021plo.1	-	4	696	c.288C>T	c.(286-288)ttC>ttT	p.F96F	CEP170_uc021plp.1_Silent_p.F96F|CEP170_uc021plq.1_Silent_p.F96F	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	96						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTACTACAGTGAAAAGATTTG	0.323000														42			10		0	0	0.000308642	0	0
RSPO2	340419	broad.mit.edu	37	8	108913384	108913384	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:108913384G>A	uc003yms.3	-	5	1309	c.651C>T	c.(649-651)aaC>aaT	p.N217N	RSPO2_uc003ymq.3_Silent_p.N150N|RSPO2_uc003ymr.3_Silent_p.N153N	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	217					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tctttttcttgttcctcttct	0.428000														45			15		0	0	0.00244969	0	0
PLCH2	9651	broad.mit.edu	37	1	2418770	2418770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:2418770G>A	uc001aji.1	+	6	1340	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	PLCH2_uc010nyz.2_Missense_Mutation_p.D145N|PLCH2_uc009vle.1_Missense_Mutation_p.D145N|PLCH2_uc001ajj.1_Missense_Mutation_p.D145N|PLCH2_uc001ajk.1_Missense_Mutation_p.D145N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	357	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTCACGGGTGGACATGTATGC	0.627000														22			5		0	0	0.000274275	0	0
KCNH5	27133	broad.mit.edu	37	14	63246485	63246485	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:63246485G>A	uc001xfx.3	-	9	2031	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Silent_p.F602F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	660					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)		GATTCCTTGAGAAGGAGTTTG	0.443000														101			11		0	0	0.00136819	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:181726163C>T	uc009wxt.3	+	29	4425	c.4230C>T	c.(4228-4230)ttC>ttT	p.F1410F	CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1410					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						TTGTGGTCTTCCCCTTCTTCT	0.488000														86			23		0	0	0.00188189	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706343	33706343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:33706343G>A	uc010dmy.3	-	1	918	c.628C>T	c.(628-630)Cct>Tct	p.P210S	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	210						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AGTTTTCCAGGTCTTGGAGTC	0.478000														143			18		0	0	0.000566183	0	0
NCOA2	10499	broad.mit.edu	37	8	71036964	71036964	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:71036964G>A	uc003xyn.1	-	19	4215	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S	NCOA2_uc011lfb.1_Silent_p.S439S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1351					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATTTATGTCGGAGGGGGCCT	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									60			13		0	0	0.00185496	0	0
ANK3	288	broad.mit.edu	37	10	61894132	61894132	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:61894132C>T	uc001jky.3	-	25	3077	c.2739_splice	c.e25-1	p.S913_splice	ANK3_uc001jkw.3_Splice_Site_p.S47_splice|ANK3_uc009xpa.3_Splice_Site_p.S47_splice|ANK3_uc001jkx.3_Splice_Site_p.S91_splice|ANK3_uc010qih.2_Splice_Site_p.S914_splice|ANK3_uc001jkz.4_Splice_Site_p.S907_splice|ANK3_uc001jla.1_5'Flank|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	913					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						GGAGCGGAGGCTGTTGTATTT	0.408000														19			13		0	0	0.00136819	0	0
SHROOM2	357	broad.mit.edu	37	X	9864373	9864373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:9864373C>T	uc004csu.1	+	3	2515	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	809					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAAACCTGTTCCCCAGAGGCC	0.602000														25			15		0	0	0.000566183	0	0
CMYA5	202333	broad.mit.edu	37	5	79028492	79028492	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:79028492G>T	uc003kgc.3	+	1	3976	c.3904G>T	c.(3904-3906)Gag>Tag	p.E1302*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1302						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTGAAAATGGAGATGAAACA	0.403000														28			6		5.9392e-07	2.15254e-06	0.00116845	1	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:138451129G>A	uc003ihe.4	-	0	2501	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_uc003ihf.4_Missense_Mutation_p.S698F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S485F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(2)		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)					TGCTCCTAAGGAAATAATTAT	0.423000														179			30		0	0	0.00127121	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811101	106811101	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:106811101C>T	uc003ymd.3	+	6	912	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZFPM2_uc011lhs.2_Silent_p.L28L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	297					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S296R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATTTCCAGCCTGTGCCCCTT	0.493000														131			20		0	0	0.00229938	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503254	110503254	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:110503254C>T	uc003yne.3	+	60	10142	c.10038C>T	c.(10036-10038)ttC>ttT	p.F3346F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3346					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)			ACCATGGCTTCTCTCCAGCAA	0.353000										HNSCC(38;0.096)				93			12		0	0	0.000978159	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586637	15586637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:15586637G>A	uc002nbg.3	-	1	977	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PGLYRP2_uc002nbf.4_Missense_Mutation_p.L282F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	282					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TAGTCTCCAAGGATGACCCCA	0.622000														51			7		0	0	0.000274275	0	0
ATP9B	374868	broad.mit.edu	37	18	77063667	77063667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:77063667C>T	uc002lmx.3	+	13	1489	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.A492V|ATP9B_uc002lmz.1_Missense_Mutation_p.A186V	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	492					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCCTATGGCGCCGACACGATG	0.542000														70			11		0	0	0.00244969	0	0
BPTF	2186	broad.mit.edu	37	17	65899939	65899939	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:65899939A>G	uc002jgf.3	+	7	2639	c.2578A>G	c.(2578-2580)Aag>Gag	p.K860E	BPTF_uc002jge.3_Missense_Mutation_p.K986E|BPTF_uc010wqm.1_Missense_Mutation_p.K923E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	986	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			aagagaagaaaaggagaaagt	0.333000														37			10		0	0	0.000442599	0	0
MAGI1	9223	broad.mit.edu	37	3	65367727	65367727	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:65367727G>A	uc003dmn.3	-	15	3052	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	MAGI1_uc003dmm.3_Silent_p.I870I|MAGI1_uc003dmo.3_Silent_p.I870I|MAGI1_uc003dmp.3_Silent_p.I842I|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Silent_p.I153I	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	870	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTGGTACGATGTGACCAA	0.443000														77			11		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179560875	179560875	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179560875C>T	uc021vsy.1	-	110	27417	c.27192G>A	c.(27190-27192)aaG>aaA	p.K9064K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K5725K|TTN_uc010fre.1_Silent_p.K175K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9991	Ig-like 73.						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)			CTCTCTTCTCCTTGTGGACTG	0.378000														8			4		0	0	0.00024832	0	0
MAST4	375449	broad.mit.edu	37	5	66084622	66084622	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:66084622G>A	uc021xzk.1	+	3	950	c.642_splice	c.e3+1	p.L214_splice	MAST4_uc010iwz.3_Splice_Site_p.L214_splice|MAST4_uc003jur.4_Splice_Site_p.L214_splice	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	214						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGCCAGCCTGGTGAGTGTCC	0.612000														18			6		0	0	0.00198382	0	0
KRT15	3866	broad.mit.edu	37	17	39671762	39671762	+	Silent	SNP	G	A	A	rs142117852	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:39671762G>A	uc002hwy.3	-	5	1400	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	KRT15_uc002hwz.3_Silent_p.I305I|KRT15_uc002hxa.3_Silent_p.I238I|KRT15_uc002hxb.1_Silent_p.I238I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	403	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTAAGTAGCGATCTCCTGCT	0.607000														81			7		0	0	0.000274275	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056771	102056771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:102056771C>T	uc001kqx.1	-	5	1534	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	PKD2L1_uc009xwm.1_Missense_Mutation_p.S337N	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	384					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTTCCAGATGCTGCTGAGGTA	0.517000														44			9		0	0	0.000673444	0	0
TRPM3	80036	broad.mit.edu	37	9	73255515	73255515	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:73255515G>A	uc004aid.3	-	9	1651	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	TRPM3_uc004ahu.3_Silent_p.I299I|TRPM3_uc004ahv.3_Silent_p.I299I|TRPM3_uc004ahw.3_Silent_p.I341I|TRPM3_uc004ahx.3_Silent_p.I316I|TRPM3_uc004ahy.3_Silent_p.I341I|TRPM3_uc004ahz.3_Silent_p.I316I|TRPM3_uc004aia.3_Silent_p.I316I|TRPM3_uc004aib.3_Silent_p.I316I|TRPM3_uc004aic.3_Silent_p.I469I|TRPM3_uc010mor.3_Silent_p.I469I	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	494						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCTGCGAGCGATGTCGACTC	0.502000											OREG0019249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			5		0	0	0.00116845	0	0
DENND1B	163486	broad.mit.edu	37	1	197479747	197479747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:197479747G>A	uc021pgu.1	-	22	2509	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AACAAAAGTCGATGAATGCCG	0.423000														96			22		0	0	0.00047179	0	0
CMYA5	202333	broad.mit.edu	37	5	79031243	79031243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:79031243C>T	uc003kgc.3	+	1	6727	c.6655C>T	c.(6655-6657)Cct>Tct	p.P2219S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2219						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGATAGATCCTGAAGGTAC	0.403000														186			39		0	0	0.0025221	0	0
NAALAD2	10003	broad.mit.edu	37	11	89907060	89907060	+	Silent	SNP	A	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:89907060A>C	uc001pdf.4	+	13	1588	c.1479A>C	c.(1477-1479)tcA>tcC	p.S493S	NAALAD2_uc009yvx.3_Silent_p.S460S|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	493	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAGACCCTTCACCTGAAAATA	0.398000														154			25		0	0	0.00106085	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146740	220146740	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:220146740C>T	uc002vkx.1	+	4	546	c.309C>T	c.(307-309)ttC>ttT	p.F103F	DNAJB2_uc010zla.1_Silent_p.F103F|DNAJB2_uc002vkw.1_Silent_p.F103F|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	103					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTCTTCCGGGAATTCT	0.592000														54			16		0	0	0.000566183	0	0
LEPR	3953	broad.mit.edu	37	1	66101934	66101934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:66101934C>T	uc001dci.3	+	19	3123	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	912					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTCCTCTTCTTTTGGAGCC	0.358000														221			42		0	0	0.000781405	0	0
GTSF1	121355	broad.mit.edu	37	12	54858877	54858877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:54858877G>A	uc001sgb.3	-	2	177	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	31							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGATGATAAGGAAACCTGCAA	0.408000														146			12		0	0	0.00244969	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796513	62796513	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:62796513T>A	uc002jew.4	-	5	1438	c.527A>T	c.(526-528)tAt>tTt	p.Y176F	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.Y176F					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		AGAAAATATATAGGGCATCCA	0.542000														62			9		0	0	0.000673444	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:46066470C>T	uc003gxb.3	-	4	765	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000														144			44		0	0	0.000781405	0	0
SYT10	341359	broad.mit.edu	37	12	33579199	33579199	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:33579199T>C	uc001rll.1	-	1	680	c.383A>G	c.(382-384)gAg>gGg	p.E128G	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	128						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATTGCAGGCTCAATAGCTTT	0.393000														158			14		0	0	0.000566183	0	0
USP29	57663	broad.mit.edu	37	19	57641091	57641091	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57641091T>A	uc002qny.3	+	3	1404	c.1048T>A	c.(1048-1050)Tta>Ata	p.L350I	USP29_uc021vci.1_Missense_Mutation_p.L350I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	350					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAGAGAATTACTTGGGAA	0.383000														91			15		0	0	0.000308642	0	0
ZNF514	84874	broad.mit.edu	37	2	95815412	95815412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:95815412G>A	uc002sud.1	-	4	1408	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ZNF514_uc002sue.1_Missense_Mutation_p.S273L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AACAAGAGACGAACTCTGGCT	0.418000														70			18		0	0	0.000566183	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														148			10		0	0	0.000673444	0	0
NKAPL	222698	broad.mit.edu	37	6	28227782	28227782	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:28227782C>T	uc003nkt.3	+	0	685	c.633C>T	c.(631-633)gaC>gaT	p.D211D	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	211	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGAGTCTGACACAAATTCTG	0.313000														95			10		0	0	0.000673444	0	0
GRIP2	80852	broad.mit.edu	37	3	14561972	14561972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:14561972G>A	uc021wtn.1	-	8	1076	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	262					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGTGGTGAGCGAGATCCCCAG	0.567000														28			9		0	0	0.000673444	0	0
ZNF510	22869	broad.mit.edu	37	9	99522716	99522716	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:99522716G>A	uc004awn.1	-	5	585	c.396C>T	c.(394-396)atC>atT	p.I132I	ZNF510_uc004awo.1_Silent_p.I132I	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTGTCTTTGATTTTCTTGT	0.358000														122			23		0	0	0.000586117	0	0
PPIL1	51645	broad.mit.edu	37	6	36823601	36823601	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:36823601G>A	uc003omu.2	-	3	741	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACCCAGAAGGGTATGCCTTAA	0.498000														85			21		0	0	0.000720815	0	0
LRP1B	53353	broad.mit.edu	37	2	141272283	141272283	+	Silent	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:141272283A>G	uc002tvj.1	-	50	9180	c.8208T>C	c.(8206-8208)caT>caC	p.H2736H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2736	LDL-receptor class A 16.				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)		CACAAATCCAATGCTTAGAAA	0.368000										TSP Lung(27;0.18)				59			7		0	0	0.00198382	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144568	12144568	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:12144568T>G	uc001atq.3	+	1	333	c.111T>G	c.(109-111)taT>taG	p.Y37*	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	37					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTACTATGACAAGGCTG	0.572000														84			20		0	0	0.00229938	0	0
PAG1	55824	broad.mit.edu	37	8	81897606	81897606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:81897606G>A	uc003ybz.3	-	6	992	c.281C>T	c.(280-282)tCa>tTa	p.S94L		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	94					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACTGTCCTCTGAAAGAACTAA	0.428000														27			6		0	0	0.00198382	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760534	91760534	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:91760534C>T	uc010aty.3	-	22	4249	c.4095G>A	c.(4093-4095)gaG>gaA	p.E1365E		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1365					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTTCTGCTCCTCATGGTACT	0.547000														173			12		0	0	0.00244969	0	0
KCNH1	3756	broad.mit.edu	37	1	211192452	211192452	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:211192452G>A	uc001hib.2	-	5	875	c.705C>T	c.(703-705)gtC>gtT	p.V235V	KCNH1_uc001hic.2_Silent_p.V235V	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	235					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)		CATTATAAGGGACCAAGATGG	0.423000														77			12		0	0	0.00136819	0	0
MUSK	4593	broad.mit.edu	37	9	113449458	113449458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:113449458G>A	uc022blv.1	+	2	402	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	MUSK_uc022blt.1_Missense_Mutation_p.E90K|MUSK_uc004bez.2_Missense_Mutation_p.E90K|MUSK_uc022blu.1_Missense_Mutation_p.E90K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	90	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGAGTGTGGAAGACAGTGA	0.522000														122			17		0	0	0.00074312	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:38948707G>A	uc003avz.1	-	6	560	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination						128			17		0	0	0.00074312	0	0
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:55541585C>T	uc010ril.2	+	0	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438000														70			19		0	0	0.000958276	0	0
LECT1	11061	broad.mit.edu	37	13	53282744	53282744	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:53282744C>G	uc001vhf.2	-	5	827	c.716G>C	c.(715-717)gGa>gCa	p.G239A	LECT1_uc001vhg.2_Missense_Mutation_p.G239A|LECT1_uc001vhh.2_Missense_Mutation_p.G228A	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	239					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTCAGTCTTCCAGCGCCTGG	0.448000														74			15		0	0	0.000422831	0	0
WDR54	84058	broad.mit.edu	37	2	74650042	74650042	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:74650042T>C	uc002slb.3	+	2	328	c.268T>C	c.(268-270)Tca>Cca	p.S90P		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	90										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTACTCACCTCACATCGAGG	0.547000														53			6		0	0	0.00198382	0	0
OR1K1	392392	broad.mit.edu	37	9	125563091	125563091	+	Silent	SNP	C	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:125563091C>A	uc011lze.2	+	0	690	c.690C>A	c.(688-690)ccC>ccA	p.P230P		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P230P(2)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCCAGCTGCCCTCAGCCTCTG	0.637000														55			5		0.000602214	0.00217043	0.000602214	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960056	117960056	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:117960056G>A	uc004equ.3	+	3	1322	c.849G>A	c.(847-849)caG>caA	p.Q283Q	ZCCHC12_uc022cdh.1_Silent_p.Q283Q	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGGAGTCTCAGGACCCTCCAC	0.572000														33			20		0	0	0.00229938	0	0
PCK1	5105	broad.mit.edu	37	20	56140627	56140627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:56140627G>A	uc002xyn.4	+	9	1799	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	PCK1_uc010zzm.2_Missense_Mutation_p.G229R	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	546					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGGATCGATGGAAAAGCCAG	0.547000														56			6		0	0	0.00116845	0	0
SGMS1	259230	broad.mit.edu	37	10	52103485	52103485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:52103485C>T	uc001jje.3	-	6	1344	c.390G>A	c.(388-390)atG>atA	p.M130I	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M130I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M130I|SGMS1_uc021pqo.1_Missense_Mutation_p.M130I|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	136					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			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCCCACTCCATGGGGTACT	0.493000														81			22		0	0	0.00047179	0	0
ATP10D	57205	broad.mit.edu	37	4	47556760	47556760	+	Silent	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:47556760A>G	uc003gxk.1	+	10	1817	c.1653A>G	c.(1651-1653)ccA>ccG	p.P551P	ATP10D_uc003gxl.1_5'UTR	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	551					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACGTGGTACCAGACACCAGGC	0.348000														65			20		0	0	0.00278032	0	0
HERC1	8925	broad.mit.edu	37	15	63955362	63955362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:63955362G>A	uc002amp.3	-	43	8870	c.8722C>T	c.(8722-8724)Cgg>Tgg	p.R2908W		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2908					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTTCTCTCCGACTTTGATTC	0.403000														229			27		0	0	0.00178596	0	0
EPHA6	285220	broad.mit.edu	37	3	96962944	96962944	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:96962944T>G	uc010how.1	+	4	1462	c.1419T>G	c.(1417-1419)tgT>tgG	p.C473W	EPHA6_uc003drp.1_Missense_Mutation_p.C473W	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	378	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGCCAGTGTGAGGACTGTG	0.468000														61			4		0	0	0.00024832	0	0
GCET2	257144	broad.mit.edu	37	3	111842515	111842515	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:111842515C>T	uc021xcl.1	-	5	515	c.330G>A	c.(328-330)gaG>gaA	p.E110E	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.E108E|GCET2_uc021xcm.1_Silent_p.E93E	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	108						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						AGGGAACATTCTCATAGTACT	0.498000														59			13		0	0	0.00185496	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831694	24831694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:24831694C>T	uc001iru.4	+	17	4010	c.3607C>T	c.(3607-3609)Caa>Taa	p.Q1203*	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Nonsense_Mutation_p.Q1167*|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Nonsense_Mutation_p.Q886*|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.Q886*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.Q39*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1203					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						AATGGAATTCCAAAAGGTGAG	0.423000														53			12		0	0	0.00136819	0	0
BAZ1A	11177	broad.mit.edu	37	14	35231092	35231092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:35231092G>A	uc001wsk.3	-	23	4682	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	BAZ1A_uc001wsl.3_Missense_Mutation_p.P1340S	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1372					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GGGAAGTTGGGACTATTTTCT	0.413000														141			7		0	0	0.000157383	0	0
ODZ2	57451	broad.mit.edu	37	5	167645775	167645775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:167645775G>A	uc010jjd.3	+	22	4852	c.4852G>A	c.(4852-4854)Gaa>Aaa	p.E1618K	ODZ2_uc003lzr.4_Missense_Mutation_p.E1388K|ODZ2_uc003lzt.4_Missense_Mutation_p.E991K|ODZ2_uc010jje.3_Missense_Mutation_p.E882K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGATGTCACTGAATTGATTGA	0.473000														83			10		0	0	0.000673444	0	0
CNGB3	54714	broad.mit.edu	37	8	87666270	87666270	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:87666270C>T	uc003ydx.3	-	6	921	c.873G>A	c.(871-873)agG>agA	p.R291R	CNGB3_uc010maj.3_Silent_p.R153R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	291					signal transduction|visual perception	integral to membrane	cGMP binding			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						TGTAGTGTTTCCTTAGCTCAT	0.289000														81			12		0	0	0.000308642	0	0
LRRC49	54839	broad.mit.edu	37	15	71302157	71302157	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:71302157C>T	uc010ukf.2	+	12	1740	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	LRRC49_uc002asu.3_Silent_p.F463F|LRRC49_uc002asx.3_Silent_p.F429F|LRRC49_uc002asw.3_Silent_p.F473F|LRRC49_uc002asy.3_Silent_p.F179F|LRRC49_uc002asz.3_Silent_p.F445F	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	473						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCTTAAATTCAAGGAAACAA	0.358000														60			17		0	0	0.00074312	0	0
LAMC2	3918	broad.mit.edu	37	1	183195866	183195866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:183195866C>T	uc001gqa.2	+	8	1414	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	LAMC2_uc001gpz.4_Missense_Mutation_p.S367L|LAMC2_uc010poa.2_Missense_Mutation_p.S67L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	367	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACCCTGATTTCAGCCCGCCCT	0.502000														164			40		0	0	0.00285205	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92109213	92109213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:92109213G>A	uc010osx.2	+	2	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		TGGCAACACGGAGAGAATCAT	0.473000														21			6		0	0	0.00116845	0	0
RNF149	284996	broad.mit.edu	37	2	101924848	101924848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:101924848G>A	uc002taz.2	-	0	331	c.203C>T	c.(202-204)tCg>tTg	p.S68L	RNF149_uc002tax.2_Non-coding_Transcript	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	Homo sapiens ring finger protein 149 (RNF149), mRNA.	68	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CTCCTTGGGCGAGCTGTCGCC	0.706000														39			6		0	0	0.00116845	0	0
SPTBN2	6712	broad.mit.edu	37	11	66478105	66478105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:66478105G>A	uc001ojd.3	-	8	1093	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	341					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCTGGTTCTGGACCCCGCTA	0.622000														25			4		0	0	0.00116845	0	0
DNM1L	10059	broad.mit.edu	37	12	32866276	32866276	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:32866276T>C	uc010skh.1	+	6	790	c.788T>C	c.(787-789)cTt>cCt	p.L263P	DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_Non-coding_Transcript|DNM1L_uc001rld.2_Missense_Mutation_p.L197P|DNM1L_uc001rle.2_Missense_Mutation_p.L197P|DNM1L_uc001rlf.2_Missense_Mutation_p.L197P|DNM1L_uc001rlg.2_Missense_Mutation_p.L263P|DNM1L_uc001rlh.2_Missense_Mutation_p.L250P|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	197	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.R263C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGGCACTTAAAATTTCA	0.368000														81			17		0	0	0.000422831	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688708	26688708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26688708G>A	uc003acb.3	+	1	627	c.431G>A	c.(430-432)aGg>aAg	p.R144K	SEZ6L_uc003acd.3_Missense_Mutation_p.R144K|SEZ6L_uc011akd.2_Missense_Mutation_p.R144K|SEZ6L_uc003ace.3_Missense_Mutation_p.R144K|SEZ6L_uc011akc.2_Missense_Mutation_p.R144K|SEZ6L_uc003acc.3_Missense_Mutation_p.R144K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	144						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGTCCAAAGGGCAGGGTCC	0.667000														37			5		0	0	0.00198382	0	0
STRC	161497	broad.mit.edu	37	15	43892249	43892249	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:43892249G>A	uc001zsf.3	-	27	5226	c.5148C>T	c.(5146-5148)gtC>gtT	p.V1716V	STRC_uc010bdl.3_Silent_p.V943V|STRC_uc001zse.3_Silent_p.V234V	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1716					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCAGGAGTGACAGCCACAG	0.547000														41			8		0	0	0.000442599	0	0
CDC14C	168448	broad.mit.edu	37	7	48964819	48964819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:48964819G>A	uc010kyv.1	+	0	663	c.551G>A	c.(550-552)gGa>gAa	p.G184E						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GCAGAAAACGGAGATTTAAAT	0.388000														58			9		0	0	0.000274275	0	0
OR13C8	138802	broad.mit.edu	37	9	107331700	107331700	+	Silent	SNP	C	T	T	rs150711746	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:107331700C>T	uc011lvo.2	+	0	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCTTGCCAGCTTTCTGGCAG	0.458000														197			21		0	0	0.00047179	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217187	150217187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:150217187C>T	uc003whk.3	+	1	255	c.125C>T	c.(124-126)gCt>gTt	p.A42V	GIMAP7_uc022apu.1_Missense_Mutation_p.A42V	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	42							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCCCAAGCTGTTACCAAG	0.498000														33			16		0	0	0.000566183	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256464	9256464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:9256464G>A	uc002knv.3	+	8	3463	c.3199G>A	c.(3199-3201)Gaa>Aaa	p.E1067K	ANKRD12_uc002knw.3_Missense_Mutation_p.E1044K|ANKRD12_uc002knx.3_Missense_Mutation_p.E1044K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E774K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1067						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCGACCTAAAGAAAAGAGGTT	0.333000														160			17		0	0	0.000566183	0	0
ARL11	115761	broad.mit.edu	37	13	50204908	50204908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:50204908G>A	uc001vdf.2	+	1	660	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ARL11_uc021rjo.1_Missense_Mutation_p.D109N	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	109					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGTCCTGAACGACCCCAACAT	0.567000														101			17		0	0	0.000958276	0	0
LCP1	3936	broad.mit.edu	37	13	46716547	46716547	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:46716547T>A	uc001vaz.4	-	12	1508	c.1382A>T	c.(1381-1383)aAc>aTc	p.N461I	LCP1_uc010ack.3_Missense_Mutation_p.N30I|LCP1_uc001vay.4_Missense_Mutation_p.N58I|LCP1_uc001vba.4_Missense_Mutation_p.N461I	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	461	Actin-binding 2.|CH 3.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACCGCGTAGTTACAATTCTC	0.383000			T	BCL6	NHL									54			6		0	0	0.00198382	0	0
GRM7	2917	broad.mit.edu	37	3	7721864	7721864	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:7721864G>A	uc003bqm.2	+	8	2854	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.K860K|GRM7_uc003bql.2_Silent_p.K860K|GRM7_uc003bqn.1_Silent_p.K443K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	860					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.R859W(1)|p.R859Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGAAACGGAAGCGAAGCTTCA	0.522000														64			15		0	0	0.000422831	0	0
TMC2	117532	broad.mit.edu	37	20	2552825	2552825	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:2552825G>A	uc002wgf.1	+	5	570	c.555_splice	c.e5-1	p.R185_splice	TMC2_uc002wgg.1_Splice_Site_p.R169_splice|TMC2_uc010zpw.1_Silent_p.R17R|TMC2_uc010zpx.1_Splice_Site_p.R16_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	185	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTAAGCAGGGAGGCCCAGG	0.443000														46			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9090729	9090729	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:9090729C>T	uc002mkp.3	-	0	1290	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	362	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						TAAGGATAGTCTCTGCTGTCT	0.488000														28			8		0	0	0.000157383	0	0
CAD	790	broad.mit.edu	37	2	27457439	27457439	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:27457439C>T	uc002rji.3	+	22	3834	c.3672C>T	c.(3670-3672)ccC>ccT	p.P1224P	CAD_uc010eyw.3_Silent_p.P1161P	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1224	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTCCTTCCCCTTCGTTTCCA	0.557000														134			32		0	0	0.0024448	0	0
OTUB1	55611	broad.mit.edu	37	11	63764603	63764603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:63764603G>A	uc001nyf.1	+	5	1109	c.505G>A	c.(505-507)Gac>Aac	p.D169N	OTUB1_uc001nyg.1_Missense_Mutation_p.D212N|OTUB1_uc010rna.1_Missense_Mutation_p.D178N|OTUB1_uc009ypb.1_Missense_Mutation_p.D139N	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	169	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	p.S168S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GAGCACCTCCGACTACCTTGT	0.597000														73			21		0	0	0.00188189	0	0
UBR4	23352	broad.mit.edu	37	1	19518857	19518857	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:19518857G>A	uc001bbi.3	-	10	1223	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	407					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCAGCAATTGGAAATTCTGA	0.428000														96			22		0	0	0.00278032	0	0
TTN	7273	broad.mit.edu	37	2	179477040	179477040	+	Missense_Mutation	SNP	C	T	T	rs148018042	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179477040C>T	uc021vsy.1	-	214	42733	c.42508G>A	c.(42508-42510)Gaa>Aaa	p.E14170K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7865K|TTN_uc021vta.1_Missense_Mutation_p.E7798K|TTN_uc021vtb.1_Missense_Mutation_p.E7673K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15097	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E7865K(1)|p.E7673K(1)|p.E14170K(1)		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)			TCCTCAATTTCGGTGTAGTCG	0.453000														53			8		0	0	0.000673444	0	0
ABCD2	225	broad.mit.edu	37	12	40012941	40012941	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:40012941G>A	uc001rmb.2	-	0	903	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	159	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CACTGTTGACGAAGGTAGCAG	0.423000														66			10		0	0	0.000442599	0	0
ITGA8	8516	broad.mit.edu	37	10	15714643	15714643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:15714643G>A	uc001ioc.1	-	6	782	c.782C>T	c.(781-783)tCc>tTc	p.S261F	ITGA8_uc010qcb.1_Missense_Mutation_p.S261F	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	261					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCATCATAGGAAGCTGGAGC	0.423000														117			33		0	0	0.00283554	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923628	105923628	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:105923628C>T	uc001pja.3	-	3	2428	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V	KBTBD3_uc001pjb.3_Silent_p.V596V|KBTBD3_uc009yxm.3_Silent_p.V517V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	592										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TAAACTGAATCACCTGGCAGT	0.378000														104			11		0	0	0.000978159	0	0
FAM53C	51307	broad.mit.edu	37	5	137680711	137680711	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:137680711C>G	uc003lcv.3	+	3	804	c.334C>G	c.(334-336)Cct>Gct	p.P112A	FAM53C_uc003lcw.3_Missense_Mutation_p.P112A|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	112										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCCTGCCCCTCCATCCAA	0.657000														60			4		0	0	0.000602214	0	0
CD300A	11314	broad.mit.edu	37	17	72469802	72469802	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:72469802C>T	uc002jkv.3	+	1	489	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	56	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACAGATTTTCCTATGTGACA	0.557000														72			6		0	0	0.00198382	0	0
ICAM3	3385	broad.mit.edu	37	19	10449497	10449497	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:10449497G>A	uc002mob.2	-	1	259	c.204C>T	c.(202-204)tcC>tcT	p.S68S	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_5'UTR	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	68	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCTTTGATAGGGACGTCTCCA	0.567000														50			14		0	0	0.000566183	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788477	156788477	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:156788477G>A	uc021ygm.1	+	26	3044	c.2906_splice	c.e26-1	p.G969_splice	CYFIP2_uc011ddn.2_Splice_Site_p.G944_splice|CYFIP2_uc011ddo.2_Splice_Site_p.G774_splice|CYFIP2_uc021ygn.1_Splice_Site_p.G969_splice|CYFIP2_uc021ygo.1_Splice_Site_p.G969_splice|CYFIP2_uc003lwt.3_Splice_Site_p.G873_splice|CYFIP2_uc011ddp.2_Splice_Site_p.G704_splice	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	995					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTCCCAGGGATCCTGGAGT	0.552000														119			19		0	0	0.00278032	0	0
SCN5A	6331	broad.mit.edu	37	3	38620983	38620983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38620983C>T	uc021wvo.1	-	16	3284	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	SCN5A_uc021wvk.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvn.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvp.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvq.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvr.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvt.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.E944K|SCN5A_uc021wvw.1_Splice_Site_p.E688_splice	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1078					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)	GGCTGGGATTCCTGCTGAAAA	0.647000														29			6		0	0	0.000157383	0	0
DSG1	1828	broad.mit.edu	37	18	28934521	28934521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:28934521G>A	uc002kwp.3	+	14	2574	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DSG1_uc010xbp.2_Missense_Mutation_p.E147K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	788					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.Q787*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTTCCTCAGGAAACAGAGCC	0.488000														98			8		0	0	0.000157383	0	0
DMBT1	1755	broad.mit.edu	37	10	124336089	124336089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124336089G>A	uc001lgk.1	+	6	564	c.458G>A	c.(457-459)gGa>gAa	p.G153E	DMBT1_uc001lgl.1_Missense_Mutation_p.G153E|DMBT1_uc001lgm.1_Missense_Mutation_p.G153E|DMBT1_uc021qaf.1_Missense_Mutation_p.G153E|DMBT1_uc021qag.1_Missense_Mutation_p.G153E|DMBT1_uc021qah.1_Missense_Mutation_p.G153E|DMBT1_uc009xzz.1_Missense_Mutation_p.G153E|DMBT1_uc010qtx.1_Missense_Mutation_p.G153E|DMBT1_uc009yaa.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.	153	SRCR 1.				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)				TCAGCTCCAGGAAATGCCTGG	0.612000														123			37		0	0	0.000814825	0	0
PRB1	5542	broad.mit.edu	37	12	11506190	11506190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:11506190C>T	uc001qzw.1	-	3	881	c.844G>A	c.(844-846)Gga>Aga	p.G282R	PRB1_uc001qzu.1_Missense_Mutation_p.G150R|PRB1_uc001qzv.1_Missense_Mutation_p.G130R	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	344	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGTGGTCCTTGTGGCTTT	0.617000														150			14		0	0	0.000422831	0	0
KRT73	319101	broad.mit.edu	37	12	53002076	53002076	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:53002076C>T	uc001sas.3	-	8	1562	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	509	Tail.					keratin filament	structural molecule activity	p.G509V(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGCTTCCCCACGGGGGC	0.582000														54			8		0	0	0.000157383	0	0
NKG7	4818	broad.mit.edu	37	19	51875550	51875550	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:51875550C>G	uc002pwj.3	-	1	340	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	NKG7_uc002pwk.3_Intron	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	57						integral to plasma membrane		p.H56H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTCTGCGTCACGTGGATGTAG	0.597000														100			27		0	0	0.000878237	0	0
BMPR1B	658	broad.mit.edu	37	4	96045035	96045035	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:96045035A>C	uc003htm.4	+	6	698	c.424A>C	c.(424-426)Atc>Ctc	p.I142L	BMPR1B_uc010ilb.3_Missense_Mutation_p.I142L|BMPR1B_uc003htn.4_Missense_Mutation_p.I142L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	142					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTTGGTCCTTATCATATTATT	0.313000														237			39		0	0	0.00285205	0	0
KCNG4	93107	broad.mit.edu	37	16	84271028	84271028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:84271028G>A	uc010voc.2	-	1	185	c.64C>T	c.(64-66)Cct>Tct	p.P22S	KCNG4_uc002fhu.1_Missense_Mutation_p.P22S	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	22						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P22P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGACTCCAAGGGCTGTGGGAA	0.627000														56			9		0	0	0.000673444	0	0
FAM47A	158724	broad.mit.edu	37	X	34148754	34148754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:34148754G>A	uc004ddg.3	-	0	1694	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	548										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGACTCTTGGGAAGCTCCGGG	0.612000														31			20		0	0	0.00278032	0	0
GDI1	2664	broad.mit.edu	37	X	153668320	153668320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:153668320C>T	uc004fli.4	+	4	763	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GDI1_uc011mzo.1_Missense_Mutation_p.R141C|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	141					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGGCGCTTCCGCAAGTTCCT	0.552000														130			65		0	0	0.000781405	0	0
MICAL2	9645	broad.mit.edu	37	11	12280079	12280079	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:12280079G>A	uc001mjz.3	+	24	3495	c.3207G>A	c.(3205-3207)cgG>cgA	p.R1069R	MICAL2_uc010rch.1_Silent_p.R879R|MICAL2_uc001mka.3_Silent_p.R1069R|MICAL2_uc010rci.2_Silent_p.R1048R|MICAL2_uc001mkb.3_Silent_p.R843R|MICAL2_uc001mkc.3_Silent_p.R822R|MICAL2_uc001mkd.3_Silent_p.R651R|MICAL2_uc010rcj.2_Silent_p.R281R|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1069						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAAGAGACGGGCAGAGTTGA	0.423000														72			13		0	0	0.000308642	0	0
ATP2B3	492	broad.mit.edu	37	X	152818590	152818590	+	Missense_Mutation	SNP	G	A	A	rs139853349	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:152818590G>A	uc004fht.1	+	10	2047	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	ATP2B3_uc004fhs.1_Missense_Mutation_p.D641N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	641					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCTTGCGATGGCCTCCG	0.607000														22			16		0	0	0.00074312	0	0
CACNA1D	776	broad.mit.edu	37	3	53844263	53844263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:53844263C>T	uc003dgv.4	+	46	6293	c.6130C>T	c.(6130-6132)Ccc>Tcc	p.P2044S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2064S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P2020S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1711S|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2044					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTGACTGTCCCCAGCAGCTT	0.622000														54			7		0	0	0.000157383	0	0
RHBDF2	79651	broad.mit.edu	37	17	74469098	74469098	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:74469098G>A	uc002jrq.2	-	16	2280	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	RHBDF2_uc021udh.1_Silent_p.F633F|RHBDF2_uc002jrr.1_Silent_p.F514F	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	662					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGCATGTAGGAAGAGAGACA	0.632000														61			7		0	0	0.000442599	0	0
ACR	49	broad.mit.edu	37	22	51183135	51183135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:51183135G>A	uc003bnh.4	+	4	778	c.766G>A	c.(766-768)Gtc>Atc	p.V256I		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	256	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|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;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCTATGTGGTCGTGGGAAT	0.597000														28			5		0	0	0.000602214	0	0
DNAH8	1769	broad.mit.edu	37	6	38942249	38942249	+	Silent	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:38942249T>C	uc021yzh.1	+	84	12887	c.12778T>C	c.(12778-12780)Tta>Cta	p.L4260L	DNAH8_uc003ooe.2_Silent_p.L4043L|DNAH8_uc003oog.1_Silent_p.L492L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATCAGTAATTTACCCATGTG	0.443000														54			24		0	0	0.000720815	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536262	69536262	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:69536262C>T	uc021xow.1	-	0	233	c.75G>A	c.(73-75)aaG>aaA	p.K25K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	25					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACACTAGCACCTTTCCACAGC	0.448000														410			134		0	0	0.000781405	0	0
SASH1	23328	broad.mit.edu	37	6	148854931	148854931	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:148854931A>G	uc003qme.1	+	14	2234	c.1759A>G	c.(1759-1761)Agc>Ggc	p.S587G	SASH1_uc011eeb.1_Missense_Mutation_p.S348G|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	587	SH3.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGATATAATCAGCAAGCCACC	0.478000														123			34		0	0	0.000953801	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017406	100017406	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100017406C>T	uc003uut.3	-	3	377	c.129G>A	c.(127-129)ggG>ggA	p.G43G	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Silent_p.G42G|ZCWPW1_uc003uuu.1_Silent_p.G42G|ZCWPW1_uc011kjt.1_Silent_p.G42G|ZCWPW1_uc011kju.1_Silent_p.G42G	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	43							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGAACTGATCCCCGGGGTCT	0.493000														89			7		0	0	0.00198382	0	0
PREX2	80243	broad.mit.edu	37	8	69020443	69020443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69020443C>T	uc003xxv.1	+	23	2842	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y	PREX2_uc011lez.1_Missense_Mutation_p.H874Y	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	939					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACCAACTGCCATGTCAATGT	0.428000														56			5		0	0	0.000602214	0	0
CHN1	1123	broad.mit.edu	37	2	175676295	175676295	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:175676295T>A	uc002uji.3	-	9	1249	c.908A>T	c.(907-909)tAc>tTc	p.Y303F	CHN1_uc010zeq.2_Missense_Mutation_p.Y277F|CHN1_uc002ujj.3_Missense_Mutation_p.Y78F|CHN1_uc002ujg.3_Missense_Mutation_p.Y178F	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	303	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGATACTCGGTATAGTCCTTC	0.348000			T	TAF15	extraskeletal myxoid chondrosarcoma									48			5		0	0	0.00116845	0	0
DDB1	1642	broad.mit.edu	37	11	61081357	61081357	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:61081357T>C	uc001nrc.4	-	14	2064	c.1838A>G	c.(1837-1839)tAc>tGc	p.Y613C	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.Y613C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	613	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCCAAAGTAGAAAAGCGC	0.448000								Nucleotide excision repair (NER)						54			12		0	0	0.00136819	0	0
CCDC127	133957	broad.mit.edu	37	5	205919	205919	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:205919G>A	uc003jam.1	-	2	376	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA.	92										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GTTCCTTTTCGAGTTCCAAGG	0.502000														66			36		0	0	0.00148497	0	0
TTN	7273	broad.mit.edu	37	2	179584291	179584291	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179584291G>A	uc021vsy.1	-	78	20421	c.20196C>T	c.(20194-20196)gtC>gtT	p.V6732V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3393V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7659	Ig-like 49.						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)			CAGAAACATGGACGGATACAG	0.398000														203			52		0	0	0.000781405	0	0
KSR2	283455	broad.mit.edu	37	12	118405883	118405883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:118405883C>T	uc001two.2	-	0	146	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	60					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACCTACCTCCAGGGTCCGG	0.453000														168			12		0	0	0.00136819	0	0
TG	7038	broad.mit.edu	37	8	133899499	133899499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:133899499G>A	uc003ytw.3	+	8	1923	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	628	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCTATGAGGATGTCCAATG	0.522000														93			12		0	0	0.00185496	0	0
SERPINH1	871	broad.mit.edu	37	11	75282859	75282859	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:75282859A>G	uc001owr.3	+	4	1286	c.988A>G	c.(988-990)Att>Gtt	p.I330V	SERPINH1_uc009yug.3_Missense_Mutation_p.I330V|SERPINH1_uc001ows.3_Missense_Mutation_p.I330V|SERPINH1_uc001owt.3_Missense_Mutation_p.I113V	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	330					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GACTGAGGCCATTGACAAGAA	0.602000														41			8		0	0	0.000673444	0	0
C2orf57	165100	broad.mit.edu	37	2	232458344	232458344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:232458344G>A	uc002vrz.3	+	0	770	c.682G>A	c.(682-684)Gga>Aga	p.G228R		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	228								p.G228G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGACAGCTTAGGAGACCTGCA	0.612000														120			29		0	0	0.00178596	0	0
KIAA0430	9665	broad.mit.edu	37	16	15704908	15704908	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:15704908G>A	uc002ddr.3	-	18	3882	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	KIAA0430_uc002ddq.3_Silent_p.I1059I|KIAA0430_uc010uzv.2_Silent_p.I1222I|KIAA0430_uc010uzw.2_Silent_p.I1225I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1224						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTCTGATACGATGTCAATCA	0.403000														67			19		0	0	0.00121646	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186429	37186430	+	RNA	DNP	CC	TT	TT			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:37186429_37186430CC>TT	uc002hrd.1	+	0		c.271_272CC>TT								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AATGAGAACCCCTCTCCAACCC	0.545000														78			9		0	0	6.4e-05	0	0
PCYT1B	9468	broad.mit.edu	37	X	24605402	24605402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:24605402G>A	uc004dbi.3	-	4	754	c.521C>T	c.(520-522)tCc>tTc	p.S174F	PCYT1B_uc004dbk.4_Missense_Mutation_p.S174F|PCYT1B_uc004dbj.3_Missense_Mutation_p.S156F	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	174	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GCCAGCAGAGGAATACGGAAT	0.463000														17			9		0	0	0.000978159	0	0
PRSS58	136541	broad.mit.edu	37	7	141952342	141952342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:141952342C>T	uc003vxb.3	-	3	846	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	PRSS58_uc003vxc.4_Missense_Mutation_p.E176K	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.T175T(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGCATATTTTCCGTGATGTTG	0.438000														121			20		0	0	0.00229938	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:240969565G>A	uc010zoc.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	OR6B2_uc002vyr.3_Silent_p.F94F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		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;3.4e-29)|all cancers(36;2.08e-27)|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)		TGCACCCGACGAAAGAGATGC	0.572000														37			5		0	0	0.000602214	0	0
MTOR	2475	broad.mit.edu	37	1	11316216	11316216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:11316216G>A	uc001asd.3	-	4	659	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	180					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AAGAAGGTAGGGACGCTGATG	0.527000														35			6		0	0	0.00116845	0	0
C20orf26	26074	broad.mit.edu	37	20	20144804	20144804	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:20144804C>T	uc002wru.3	+	10	1251	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P	C20orf26_uc010gcw.2_Silent_p.P333P|C20orf26_uc010zse.2_Silent_p.P379P|C20orf26_uc010zsf.1_Silent_p.P379P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	379										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTCCGCCCCATCTACAGGG	0.502000														89			10		0	0	0.000673444	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:2582822C>T	uc002wgf.1	+	10	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	430						integral to membrane		p.R430H(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000														54			7		0	0	0.00198382	0	0
FAM165B	54065	broad.mit.edu	37	21	35757832	35757832	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:35757832C>T	uc002ytu.4	+	2	264	c.69C>T	c.(67-69)ctC>ctT	p.L23L	FAM165B_uc002ytv.2_Intron|FAM165B_uc002ytw.2_Non-coding_Transcript	NM_058182	NP_478062	P58511	F165B_HUMAN	Homo sapiens family with sequence similarity 165, member B (FAM165B), mRNA.	23						integral to membrane											CATTAATTCTCTGCCTGACAT	0.418000														198			50		0	0	0.000781405	0	0
CPD	1362	broad.mit.edu	37	17	28772936	28772936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:28772936C>T	uc002hfb.2	+	11	2828	c.2771C>T	c.(2770-2772)tCa>tTa	p.S924L	CPD_uc010wbo.2_Missense_Mutation_p.S677L|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	924	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGCTCCTCCTCAAATCTGGCT	0.393000														124			15		0	0	0.000308642	0	0
LRP2	4036	broad.mit.edu	37	2	170062962	170062962	+	Missense_Mutation	SNP	G	A	A	rs34893088		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:170062962G>A	uc002ues.3	-	38	7481	c.7268C>T	c.(7267-7269)tCt>tTt	p.S2423F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2423					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.M2422L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAGTCTAGAGACATGACAGT	0.418000														64			22		0	0	0.00229938	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484131	73484131	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:73484131C>T	uc010wsa.2	+	4	750	c.558C>T	c.(556-558)aaC>aaT	p.N186N	KIAA0195_uc002jnz.4_Silent_p.N176N|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	176					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGTCAACCTGCCAGTCA	0.567000														45			9		0	0	0.000673444	0	0
SRSF4	6429	broad.mit.edu	37	1	29475057	29475057	+	Silent	SNP	C	A	A	rs148084661	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:29475057C>A	uc001bro.3	-	5	1723	c.1350G>T	c.(1348-1350)tcG>tcT	p.S450S	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	450	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GGTTTGGTTTCGATTTGGAAT	0.517000														142			24		2.89027e-11	1.0594e-10	0.00229938	1	0
FAM90A1	55138	broad.mit.edu	37	12	8374566	8374566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:8374566G>A	uc001qui.2	-	6	1806	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	FAM90A1_uc001quh.2_Missense_Mutation_p.S416F	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	416							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTTCTCAGGAGAGTGAAATGA	0.612000														43			4		0	0	0.000602214	0	0
CACNA1S	779	broad.mit.edu	37	1	201046104	201046104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:201046104C>T	uc001gvv.3	-	11	1998	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	591					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGCCGTACTTCTGTGTCTTCA	0.567000														102			18		0	0	0.00152264	0	0
DAB1	1600	broad.mit.edu	37	1	57535063	57535063	+	Silent	SNP	A	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:57535063A>T	uc009vzx.1	-	7	953	c.633T>A	c.(631-633)cgT>cgA	p.R211R	DAB1_uc001cyt.1_Silent_p.R211R|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Silent_p.R211R	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	211					cell differentiation|nervous system development			p.R211H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTTCGGGATCACGGATTGGCT	0.403000														107			25		0	0	0.00106085	0	0
HADHB	3032	broad.mit.edu	37	2	26507820	26507820	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:26507820A>G	uc002rgz.3	+	13	1470	c.1219A>G	c.(1219-1221)Acc>Gcc	p.T407A	HADHB_uc010ykv.2_Missense_Mutation_p.T385A|HADHB_uc010ykw.2_Missense_Mutation_p.T392A|HADHB_uc010ykx.2_Missense_Mutation_p.T333A	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	407					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTAGAAAAACCAAGGTGAG	0.338000														230			23		0	0	0.00278032	0	0
DDX17	10521	broad.mit.edu	37	22	38890739	38890739	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:38890739G>A	uc003avy.4	-	7	1213	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	DDX17_uc003avx.4_Silent_p.F370F|DDX17_uc011anu.2_Silent_p.F283F	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	291	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AATCACGAAGGAAATCCTCTG	0.463000														197			30		0	0	0.00178596	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000503	16000503	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:16000503C>T	uc002nbs.1	-	7	698	c.648_splice	c.e7-1	p.E216_splice	CYP4F2_uc010xot.1_Splice_Site_p.E67_splice|CYP4F2_uc010xou.1_Splice_Site_p.E67_splice	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	216					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CACTGGGTTTCCTGCAGGATA	0.468000														137			22		0	0	0.000878237	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171462	39171462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:39171462G>A	uc004abi.3	-	7	1476	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.R413*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.R413*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.R413*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	413	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAACCACGTCGAAGTTCGCCG	0.498000														73			13		0	0	0.00136819	0	0
C15orf23	90417	broad.mit.edu	37	15	40675119	40675119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:40675119C>T	uc001zll.3	+	0	198	c.83C>T	c.(82-84)cCg>cTg	p.P28L	C15orf23_uc001zlo.3_Missense_Mutation_p.P28L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P28L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	28						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CACCCACTTCCGCCTAGCTAC	0.567000														56			15		0	0	0.000566183	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054821	65054821	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:65054821G>A	uc001xhl.1	+	11	987	c.891_splice	c.e11-1	p.R297_splice	PPP1R36_uc001xhm.1_Splice_Site_p.R27_splice	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	297																	CTCCCCGACAGGAGAATGATG	0.463000														82			7		0	0	0.00198382	0	0
SETD5	55209	broad.mit.edu	37	3	9483415	9483415	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:9483415T>C	uc003brt.3	+	8	1384	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L	SETD5_uc003brs.1_Missense_Mutation_p.F298L|SETD5_uc003bru.3_Missense_Mutation_p.F219L|SETD5_uc003brv.3_Missense_Mutation_p.F206L|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	317	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAATGGGCATTTCTTCAAAAA	0.423000														102			21		0	0	0.00188189	0	0
TTC39C	125488	broad.mit.edu	37	18	21649138	21649138	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:21649138C>T	uc002kuw.3	+	3	815	c.363C>T	c.(361-363)tcC>tcT	p.S121S	TTC39C_uc002kuu.3_Silent_p.S60S	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	121							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCGAAAATCCGCCCCCTCTA	0.433000														78			8		0	0	0.000157383	0	0
CC2D1B	200014	broad.mit.edu	37	1	52821912	52821912	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:52821912T>C	uc001ctq.2	-	17	2169	c.2018A>G	c.(2017-2019)cAg>cGg	p.Q673R	CC2D1B_uc001ctr.3_Missense_Mutation_p.Q213R|CC2D1B_uc001cts.3_Missense_Mutation_p.Q358R	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	673										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GTCGAGGCCCTGAGCCTGGGC	0.572000														102			22		0	0	0.00047179	0	0
MGAT3	4248	broad.mit.edu	37	22	39883496	39883496	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:39883496C>T	uc003axv.4	+	1	383	c.144C>T	c.(142-144)agC>agT	p.S48S	MGAT3_uc010gxy.3_Silent_p.S48S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	48	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGTGTCCAGCTTTTTCTGGA	0.637000														207			38		0	0	0.00195071	0	0
DNAH7	56171	broad.mit.edu	37	2	196602772	196602772	+	Missense_Mutation	SNP	C	T	T	rs62203618		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:196602772C>T	uc002utj.4	-	64	12049	c.11948G>A	c.(11947-11949)cGg>cAg	p.R3983Q	DNAH7_uc002uti.4_Missense_Mutation_p.R466Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3983					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TACTCCTCTCCGCTCACTTGT	0.463000														61			7		0	0	0.00198382	0	0
TIAM2	26230	broad.mit.edu	37	6	155450802	155450802	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:155450802T>A	uc003qqb.3	+	5	1718	c.445T>A	c.(445-447)Tcc>Acc	p.S149T	TIAM2_uc003qqe.3_Missense_Mutation_p.S149T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGCATTGCCTCCACCCCACC	0.572000														26			9		0	0	0.000978159	0	0
FGFR1	2260	broad.mit.edu	37	8	38273548	38273548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:38273548G>A	uc022aua.1	-	12	2636	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.S596F|FGFR1_uc011lbv.2_Missense_Mutation_p.S563F|FGFR1_uc011lbw.2_Missense_Mutation_p.S476F|FGFR1_uc003xlp.3_Missense_Mutation_p.S563F|FGFR1_uc022aub.1_Missense_Mutation_p.S563F|FGFR1_uc022auc.1_Missense_Mutation_p.S476F|FGFR1_uc022aud.1_Missense_Mutation_p.S474F|FGFR1_uc010lwk.3_Missense_Mutation_p.S555F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	565	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTTGCCCTTGGAGGCATACTC	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							28			5		0	0	0.000157383	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518385	161518385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:161518385C>T	uc001gar.3	-	2	437	c.253G>A	c.(253-255)Gga>Aga	p.G85R	FCGR3A_uc001gas.3_Missense_Mutation_p.G84R|FCGR3A_uc001gat.4_Missense_Mutation_p.G49R|FCGR3A_uc009wuh.3_Missense_Mutation_p.G48R|FCGR3A_uc009wui.3_Missense_Mutation_p.G49R	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTAGGCTCCCTGGCACTTC	0.537000														238			27		0	0	0.00127121	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255315	30255315	+	Silent	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:30255315A>G	uc002ymo.1	-	1	239	c.213T>C	c.(211-213)gcT>gcC	p.A71A	N6AMT1_uc002ymp.1_Silent_p.A71A|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	71					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACATGTACAAAGCCTGAGGGC	0.343000														49			8		0	0	0.000274275	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875797	75875797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:75875797G>A	uc001sxs.3	+	1	506	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	GLIPR1_uc009zsb.1_Missense_Mutation_p.E120K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	120					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGGTATGACGAAATCCAGGA	0.453000														56			9		0	0	0.000442599	0	0
RWDD3	25950	broad.mit.edu	37	1	95699828	95699828	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95699828G>A	uc009wdu.3	+	0	118	c.42G>A	c.(40-42)gcG>gcA	p.A14A	TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_5'Flank|RWDD3_uc010oty.2_5'UTR|RWDD3_uc009wdt.3_Silent_p.A14A|RWDD3_uc001drh.4_5'UTR|RWDD3_uc001dri.4_Silent_p.A14A|RWDD3_uc001drf.4_Silent_p.A14A|RWDD3_uc009wdv.3_Non-coding_Transcript|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	14	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TCCTGGCCGCGATTTTCTGCA	0.726000														8			5		0	0	0.00116845	0	0
IGSF21	84966	broad.mit.edu	37	1	18702887	18702887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:18702887C>T	uc001bau.2	+	6	1482	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	IGSF21_uc001bav.2_Nonsense_Mutation_p.Q188*	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	367	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCATGGGTTTCAGGTCAGCCT	0.577000														90			11		0	0	0.00136819	0	0
PTPRO	5800	broad.mit.edu	37	12	15734656	15734656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:15734656C>T	uc001rcv.2	+	22	3646	c.3176C>T	c.(3175-3177)gCc>gTc	p.A1059V	PTPRO_uc001rcw.2_Missense_Mutation_p.A1031V|PTPRO_uc001rcx.2_Missense_Mutation_p.A248V|PTPRO_uc001rcy.2_Missense_Mutation_p.A248V|PTPRO_uc001rcz.2_Missense_Mutation_p.A220V|PTPRO_uc001rda.2_Missense_Mutation_p.A220V	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1059	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAACCTATAGCCTATGGAGAC	0.453000														63			6		0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	113348948	113348948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:113348948C>T	uc003ynu.3	-	43	7111	c.6952G>A	c.(6952-6954)Ggg>Agg	p.G2318R	CSMD3_uc003yns.3_Missense_Mutation_p.G1520R|CSMD3_uc003ynt.3_Missense_Mutation_p.G2278R|CSMD3_uc011lhx.2_Missense_Mutation_p.G2214R|CSMD3_uc003ynw.1_Missense_Mutation_p.G29R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2318	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGCCATTCCCAGGGGGTACT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				145			28		0	0	0.00209593	0	0
C15orf2	23742	broad.mit.edu	37	15	24922823	24922823	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:24922823C>T	uc001ywo.3	+	0	2283	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	603					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)		TCCCAAATTCCCAAATACATT	0.458000														61			23		0	0	0.00229938	0	0
CRB2	286204	broad.mit.edu	37	9	126132513	126132513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:126132513C>T	uc004bnx.1	+	6	1273	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	CRB2_uc004bnw.1_Missense_Mutation_p.S394F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	394	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCGACTGTTCTGTGCAGCTC	0.637000														25			5		0	0	0.00116845	0	0
METTL16	79066	broad.mit.edu	37	17	2323568	2323568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:2323568G>A	uc002fut.3	-	9	1533	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.P244L	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	462							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATCCTCCGTGGGTTCCGGGTT	0.632000														123			23		0	0	0.000586117	0	0
OSBPL3	26031	broad.mit.edu	37	7	24888786	24888786	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:24888786G>T	uc003sxf.3	-	11	1573	c.1168C>A	c.(1168-1170)Caa>Aaa	p.Q390K	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Intron|OSBPL3_uc003sxh.3_Missense_Mutation_p.Q359K|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Intron|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	390					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCTGTGTTTTGTGCTAGGGCC	0.512000														110			13		4.3838e-07	1.5918e-06	0.00185496	1	0
CDH8	1006	broad.mit.edu	37	16	61859019	61859019	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:61859019G>A	uc002eog.2	-	4	1687	c.732C>T	c.(730-732)atC>atT	p.I244I	CDH8_uc002eoh.3_Silent_p.I13I	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	244	Cadherin 2.				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)		CTTTGGCTTGGATAACAACCA	0.458000														93			12		0	0	0.00185496	0	0
PEG3	5178	broad.mit.edu	37	19	57326051	57326051	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57326051C>T	uc002qnu.2	-	6	4110	c.3759G>A	c.(3757-3759)ctG>ctA	p.L1253L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.L1224L|PEG3_uc002qnv.2_Silent_p.L1253L|PEG3_uc002qnw.2_Silent_p.L1129L|PEG3_uc002qnx.2_Silent_p.L1127L|PEG3_uc010etr.2_Silent_p.L1253L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1253					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTCTGCTCCAGTAAATCAT	0.478000														52			6		0	0	0.00198382	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572239	101572239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:101572239C>T	uc003dvp.3	+	4	984	c.869C>T	c.(868-870)tCt>tTt	p.S290F	NFKBIZ_uc003dvo.3_Missense_Mutation_p.S190F|NFKBIZ_uc010hpo.3_Missense_Mutation_p.S190F|NFKBIZ_uc003dvq.3_Intron	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TACCAGTATTCTCCACAGAAC	0.512000														82			9		0	0	0.000673444	0	0
TFDP1	7027	broad.mit.edu	37	13	114287473	114287473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:114287473T>C	uc001vtw.3	+	5	559	c.347T>C	c.(346-348)cTa>cCa	p.L116P	TFDP1_uc010tkd.2_Missense_Mutation_p.L21P|TFDP1_uc010tke.2_Missense_Mutation_p.L21P|TFDP1_uc001vty.4_Missense_Mutation_p.L116P|TFDP1_uc010agx.3_Missense_Mutation_p.L116P	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	116					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.G115D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGCAAGGGCCTACGGCATTTC	0.527000										TSP Lung(29;0.18)				45			13		0	0	0.00244969	0	0
IFT122	55764	broad.mit.edu	37	3	129195284	129195284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:129195284G>A	uc003eml.3	+	10	1302	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	IFT122_uc003emm.3_Missense_Mutation_p.G315R|IFT122_uc003emn.3_Missense_Mutation_p.G256R|IFT122_uc003emo.3_Missense_Mutation_p.G204R|IFT122_uc003emp.3_Missense_Mutation_p.G165R|IFT122_uc010htc.3_Missense_Mutation_p.G307R|IFT122_uc011bky.2_Missense_Mutation_p.G106R|IFT122_uc011bla.2_Missense_Mutation_p.G106R|IFT122_uc003emr.3_Missense_Mutation_p.G106R|IFT122_uc011bkx.1_Missense_Mutation_p.G155R|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	315					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGTGCGGCTTGGGACTGTTGG	0.512000														120			19		0	0	0.00188189	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:110835597C>T	uc003kph.1	-	5	689	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_uc010jbw.1_Missense_Mutation_p.R104Q|STARD4_uc010jbx.1_Missense_Mutation_p.R104Q|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000														63			15		0	0	0.00244969	0	0
EPPK1	83481	broad.mit.edu	37	8	144941668	144941668	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:144941668C>T	uc003zaa.1	-	0	5767	c.5754G>A	c.(5752-5754)agG>agA	p.R1918R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1918						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTCCTTCCTGCTGGCCT	0.657000														30			5		0	0	0.000602214	0	0
CPEB1	64506	broad.mit.edu	37	15	83222286	83222286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:83222286G>A	uc002bit.3	-	6	1311	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	CPEB1_uc002bir.3_Missense_Mutation_p.R257C|CPEB1_uc002bis.3_Missense_Mutation_p.R257C|CPEB1_uc010uod.2_Missense_Mutation_p.R106C|CPEB1_uc002biq.3_Missense_Mutation_p.R257C|CPEB1_uc010uoe.2_Missense_Mutation_p.R335C|CPEB1_uc002biu.3_Missense_Mutation_p.R359C|CPEB1_uc010uof.2_Missense_Mutation_p.R257C|CPEB1_uc002biv.3_Missense_Mutation_p.R332C|CPEB1_uc002bip.3_Missense_Mutation_p.R106C	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	332	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAAAAACACGGAAGGTGTTA	0.458000														26			4		0	0	0.00024832	0	0
APC	324	broad.mit.edu	37	5	112179658	112179658	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:112179658C>T	uc003kpz.4	+	16	8560	c.8367C>T	c.(8365-8367)agC>agT	p.S2789S	APC_uc011cvt.2_Silent_p.S2771S|APC_uc003kpy.4_Silent_p.S2789S|APC_uc010jbz.3_Silent_p.S2506S|APC_uc010jca.3_Silent_p.S2089S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2789	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACAACCCAAGCCCTAGGAAAA	0.478000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				75			12		0	0	0.00244969	0	0
PHEX	5251	broad.mit.edu	37	X	22095764	22095764	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:22095764T>C	uc004dah.3	+	4	810	c.607T>C	c.(607-609)Ttc>Ctc	p.F203L	PHEX_uc011mjr.2_Missense_Mutation_p.F203L|PHEX_uc011mjs.2_Missense_Mutation_p.F106L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	203					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAATTCTGTGTTCATCCGTTT	0.428000														103			41		0	0	0.0025221	0	0
ZAN	7455	broad.mit.edu	37	7	100345200	100345200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100345200C>T	uc003uwj.3	+	8	1124	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ZAN_uc003uwk.3_Missense_Mutation_p.S320L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	320	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACTCTCTTCTCAGGACAACCT	0.517000														66			10		0	0	0.000442599	0	0
RYR2	6262	broad.mit.edu	37	1	237886500	237886500	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237886500G>T	uc001hyl.1	+	73	10747	c.10627G>T	c.(10627-10629)Gat>Tat	p.D3543Y	RYR2_uc010pxz.1_Missense_Mutation_p.D498Y|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3543					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATACCTCAGATCCAGAGAA	0.393000														189			16		4.7546e-09	1.73619e-08	0.000422831	1	0
SLC6A13	6540	broad.mit.edu	37	12	369019	369019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:369019C>T	uc001qic.2	-	1	290	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SLC6A13_uc009zdj.2_Missense_Mutation_p.G67E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G67E|SLC6A13_uc001qid.2_Missense_Mutation_p.G67E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	67					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATCTCACCTCCCCCATTTTT	0.537000														95			14		0	0	0.00185496	0	0
FZD5	7855	broad.mit.edu	37	2	208632349	208632349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:208632349G>A	uc021vvr.1	-	0	1115	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	FZD5_uc002vcj.3_Missense_Mutation_p.S372F	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	372					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCCGTGATGGACTTGACGCT	0.667000														9			6		0	0	0.00198382	0	0
PROKR2	128674	broad.mit.edu	37	20	5283226	5283226	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:5283226C>T	uc010zqw.2	-	1	623	c.615G>A	c.(613-615)aaG>aaA	p.K205K	PROKR2_uc010zqx.2_Silent_p.K205K|PROKR2_uc010zqy.2_Silent_p.K205K	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	205						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACAGAAGATCTTCTCCTGGC	0.512000										HNSCC(71;0.22)				116			18		0	0	0.000958276	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956276	102956276	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:102956276T>A	uc003vbo.3	-	14	1822	c.1571A>T	c.(1570-1572)aAg>aTg	p.K524M	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Missense_Mutation_p.K149M|DNAJC2_uc010lix.3_Missense_Mutation_p.K471M|DNAJC2_uc003vbp.3_Missense_Mutation_p.K149M	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	524					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTTTGAACTTATCAAATGC	0.308000														56			10		0	0	0.00185496	0	0
RERE	473	broad.mit.edu	37	1	8422900	8422900	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:8422900G>C	uc001ape.3	-	16	2555	c.1745C>G	c.(1744-1746)tCg>tGg	p.S582W	RERE_uc001apf.3_Missense_Mutation_p.S582W|RERE_uc010nzx.1_Missense_Mutation_p.S314W|RERE_uc001apd.3_Missense_Mutation_p.S28W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	582					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGTAGTGTCGACATCTGCCC	0.617000														62			17		0	0	0.000566183	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156400	70156400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:70156400C>T	uc003hej.3	+	4	1183	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	394					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTAGGCATTCCATTGTTTTGG	0.463000														179			32		0	0	0.000814825	0	0
NRG3	10718	broad.mit.edu	37	10	84738844	84738844	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:84738844G>A	uc021pvc.1	+	7	1578	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	NRG3_uc010qlz.1_Silent_p.R516R|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.R517R|NRG3_uc001kcp.2_Silent_p.R296R|NRG3_uc001kcq.2_Silent_p.R167R|NRG3_uc021pvd.1_Silent_p.R296R|NRG3_uc021pve.1_Silent_p.R321R|NRG3_uc021pvf.1_Silent_p.R167R|NRG3_uc021pvg.1_Silent_p.R321R|NRG3_uc021pvh.1_Silent_p.R105R|NRG3_uc021pvi.1_Silent_p.R347R|NRG3_uc021pvk.1_Silent_p.R33R|NRG3_uc001kcr.2_Silent_p.R167R|NRG3_uc021pvl.1_Silent_p.R167R	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	517					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGAATCAAGGATCCCAGACC	0.478000														44			10		0	0	0.000673444	0	0
ENPEP	2028	broad.mit.edu	37	4	111397936	111397936	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:111397936C>T	uc003iab.4	+	0	708	c.366C>T	c.(364-366)tcC>tcT	p.S122S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	122					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)	TGAGCATCTCCATCAACCTGA	0.632000														149			12		0	0	0.00136819	0	0
CD163L1	283316	broad.mit.edu	37	12	7521977	7521977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:7521977C>T	uc010sge.2	-	14	4071	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	CD163L1_uc001qsy.3_Missense_Mutation_p.E1339K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1339						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGCATCTTCCTTGTGTCCA	0.507000														120			10		0	0	0.00136819	0	0
GRM3	2913	broad.mit.edu	37	7	86468913	86468913	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:86468913C>T	uc003uid.3	+	3	3182	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.L567L|GRM3_uc010leh.3_Silent_p.L287L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	695					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTGCCTGGGTCTGATCCTGGT	0.537000														53			7		0	0	0.00198382	0	0
PCDH15	65217	broad.mit.edu	37	10	55582494	55582494	+	Silent	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:55582494A>G	uc010qhy.1	-	34	5408	c.5013T>C	c.(5011-5013)ttT>ttC	p.F1671F	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1666F|PCDH15_uc021pqz.1_Silent_p.F1641F|PCDH15_uc010qhv.1_Silent_p.F1661F|PCDH15_uc010qhw.1_Silent_p.F1624F|PCDH15_uc010qhx.1_Silent_p.F1595F|PCDH15_uc010qhz.1_Silent_p.F1666F|PCDH15_uc010qia.1_Silent_p.F1644F|PCDH15_uc001jju.1_Silent_p.F1664F|PCDH15_uc010qib.1_Silent_p.F1641F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1664					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGGCCTGGGAAAGCAAAATG	0.413000										HNSCC(58;0.16)				54			17		0	0	0.000566183	0	0
LCP2	3937	broad.mit.edu	37	5	169677818	169677818	+	Nonsense_Mutation	SNP	G	C	C	rs76018609		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:169677818G>C	uc003man.1	-	19	1602	c.1395C>G	c.(1393-1395)taC>taG	p.Y465*	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Nonsense_Mutation_p.Y260*|LCP2_uc011det.1_Nonsense_Mutation_p.Y294*	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	465	SH2.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTTTATCTTTGTACAACACCA	0.383000														75			10		0	0	0.000673444	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148725	70148725	+	Silent	SNP	G	A	A	rs141540446		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:70148725G>A	uc004dyn.3	-	2	672	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SLC7A3_uc004dyo.3_Silent_p.F166F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	166					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAAAGCAAAGAAATCTGGAT	0.547000														20			10		0	0	0.000673444	0	0
ADAM2	2515	broad.mit.edu	37	8	39627032	39627032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39627032G>A	uc003xnj.3	-	11	1166	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	ADAM2_uc003xnk.3_Missense_Mutation_p.S345L|ADAM2_uc011lck.2_Missense_Mutation_p.S364L|ADAM2_uc003xnl.3_Missense_Mutation_p.S238L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	364	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S364L(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTCTGCTTTGAAATAAAATG	0.408000														34			9		0	0	0.000442599	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348650	49348650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:49348650G>A	uc002pkx.3	-	15	2271	c.1720C>T	c.(1720-1722)Cct>Tct	p.P574S	PLEKHA4_uc010eml.3_Missense_Mutation_p.P549S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	574						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGTGGGGAAGGGAGGTGGCGA	0.572000														75			6		0	0	0.00198382	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:142168486G>A	uc011kry.1	-	1	403	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCTAGGAGGGAAGTTTCCTC	0.527000														88			13		0	0	0.00136819	0	0
MYO18B	84700	broad.mit.edu	37	22	26422411	26422411	+	Splice_Site	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26422411G>C	uc003abz.1	+	43	6721	c.6471_splice	c.e43-1	p.R2157_splice	MYO18B_uc003aca.1_Splice_Site_p.R2038_splice|MYO18B_uc010guy.1_Splice_Site_p.R2039_splice|MYO18B_uc010guz.1_Splice_Site_p.R2037_splice|MYO18B_uc011aka.1_Splice_Site_p.R1311_splice|MYO18B_uc011akb.1_Splice_Site_p.R1670_splice|MYO18B_uc010gva.1_Splice_Site_p.R140_splice|MYO18B_uc010gvb.1_Splice_Site	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2157						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTGGCACAGGATAAACGAAG	0.488000														179			37		0	0	0.00170553	0	0
MUC16	94025	broad.mit.edu	37	19	9000475	9000475	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:9000475C>T	uc002mkp.3	-	53	40713	c.40509G>A	c.(40507-40509)aaG>aaA	p.K13503K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K320K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13505	SEA 10.				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						TGGTGTTAAACTTTCTAGAGC	0.507000														63			15		0	0	0.000566183	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802587	178802587	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:178802587T>C	uc001glz.3	+	7	847	c.509T>C	c.(508-510)tTt>tCt	p.F170S	RALGPS2_uc001gly.1_Missense_Mutation_p.F170S|RALGPS2_uc010pnb.2_Missense_Mutation_p.F170S	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	170	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAACTACCTTTGAAAAATTA	0.289000														66			20		0	0	0.00121646	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800494	45800494	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:45800494C>T	uc011bai.2	-	10	1879	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	SLC6A20_uc003cow.3_Silent_p.R235R|SLC6A20_uc011baj.2_Silent_p.R548R	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	585					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCGTCTCCCCTCTTGAGGC	0.592000														55			9		0	0	0.000673444	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885124	24885124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:24885124C>T	uc001wpf.4	+	8	4487	c.4169C>T	c.(4168-4170)cCc>cTc	p.P1390L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1390					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGCTCCTGCCCCTCTGGAGG	0.627000														73			9		0	0	0.000274275	0	0
FAM118A	55007	broad.mit.edu	37	22	45719160	45719160	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:45719160C>G	uc003bfz.4	+	3	768	c.152C>G	c.(151-153)tCg>tGg	p.S51W	FAM118A_uc003bga.4_Missense_Mutation_p.S51W	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	51						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCTTTGCTCGTGGAGAAGC	0.607000														52			10		0	0	0.000978159	0	0
PREX2	80243	broad.mit.edu	37	8	69058575	69058575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69058575C>T	uc003xxv.1	+	33	4246	c.4219C>T	c.(4219-4221)Ctt>Ttt	p.L1407F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1407					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCATCCTGTTCTTTTTGCACA	0.318000														66			10		0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616956	77616956	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:77616956C>T	uc003yau.2	+	1	1020	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ZFHX4_uc003yat.1_Silent_p.F211F|ZFHX4_uc003yaw.1_Silent_p.F211F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCAGGCTTTCCCAAATACCT	0.463000										HNSCC(33;0.089)				44			10		0	0	0.000978159	0	0
BSN	8927	broad.mit.edu	37	3	49699811	49699811	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:49699811G>A	uc003cxe.4	+	5	10647	c.10533G>A	c.(10531-10533)ttG>ttA	p.L3511L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3511					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCAGTCCTTTGGGGAGGCCCC	0.672000														23			10		0	0	0.000442599	0	0
FAM24B	196792	broad.mit.edu	37	10	124610020	124610020	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124610020G>A	uc001lgt.3	-	2	346	c.12C>T	c.(10-12)atC>atT	p.I4I	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Silent_p.I4I|LOC399815_uc001lgu.3_5'Flank	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	4						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TACCACCAGCGATGACAGGCA	0.493000														87			25		0	0	0.000586117	0	0
PDE4B	5142	broad.mit.edu	37	1	66827409	66827409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:66827409C>T	uc001dcn.3	+	9	1144	c.953C>T	c.(952-954)tCa>tTa	p.S318L	PDE4B_uc009war.3_Missense_Mutation_p.S226L|PDE4B_uc001dco.3_Missense_Mutation_p.S318L|PDE4B_uc001dcp.3_Missense_Mutation_p.S303L|PDE4B_uc001dcq.3_Missense_Mutation_p.S146L|PDE4B_uc009was.3_Missense_Mutation_p.S85L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	318					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATGCATAGTTCAAGCCTAAAC	0.433000														77			18		0	0	0.00074312	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175582	143175582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:143175582C>T	uc003wdc.1	+	0	617	c.617C>T	c.(616-618)tCt>tTt	p.S206F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTAATTAATTCTCTGAGGAGG	0.463000														41			11		0	0	0.000673444	0	0
DSCAM	1826	broad.mit.edu	37	21	41711182	41711182	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41711182C>T	uc002yyq.1	-	6	1823	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	457	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTGATCATCTGGCTGATGC	0.597000														35			13		0	0	0.00185496	0	0
C8orf34	116328	broad.mit.edu	37	8	69434034	69434034	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:69434034G>A	uc010lyz.3	+	6	1057	c.766_splice	c.e6-1	p.E256_splice	C8orf34_uc010lyy.2_Splice_Site_p.E256_splice|C8orf34_uc003xyb.3_Splice_Site_p.E145_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	170					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCTTCAGGAAACAGTGAC	0.388000														51			6		0	0	0.000157383	0	0
DKK2	27123	broad.mit.edu	37	4	107845771	107845771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:107845771G>A	uc003hyi.3	-	2	1165	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H154Y	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	154					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTGAGTAATGACCGTGGTTT	0.453000														93			12		0	0	0.000422831	0	0
TNNC1	7134	broad.mit.edu	37	3	52485442	52485442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:52485442C>T	uc003deb.3	-	4	445	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	140	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GTTCTTGTCTCCGTCCTTCAT	0.577000														31			5		0	0	0.00116845	0	0
TTC30B	150737	broad.mit.edu	37	2	178416698	178416698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:178416698C>T	uc002uln.3	-	0	827	c.794G>A	c.(793-795)aGa>aAa	p.R265K	TTC30B_uc010zfc.1_Missense_Mutation_p.R37K	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	265					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATAGTTTCTCAGTTGGTA	0.512000														150			19		0	0	0.000958276	0	0
IVL	3713	broad.mit.edu	37	1	152882714	152882714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152882714G>A	uc021ozl.1	+	0	441	c.441G>A	c.(439-441)atG>atA	p.M147I	IVL_uc001fau.3_Missense_Mutation_p.M147I	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	147					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGGGAATGAAGAAAGAGC	0.532000														51			7		0	0	0.000274275	0	0
CD86	942	broad.mit.edu	37	3	121838341	121838341	+	Missense_Mutation	SNP	C	T	T	rs141281931		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:121838341C>T	uc003eet.3	+	6	1078	c.950C>T	c.(949-951)tCg>tTg	p.S317L	CD86_uc011bjo.2_Missense_Mutation_p.S235L|CD86_uc011bjp.2_Missense_Mutation_p.S205L|CD86_uc003eeu.3_Missense_Mutation_p.S311L|CD86_uc021xcz.1_Missense_Mutation_p.S263L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	317					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTAAAAGTTCGAAGACATCT	0.333000														60			5		0	0	0.00198382	0	0
CHRM2	1129	broad.mit.edu	37	7	136700038	136700038	+	Missense_Mutation	SNP	G	A	A	rs142493466		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:136700038G>A	uc003vtf.1	+	3	1049	c.426G>A	c.(424-426)atG>atA	p.M142I	CHRM2_uc003vtg.1_Missense_Mutation_p.M142I|CHRM2_uc003vti.1_Missense_Mutation_p.M142I|CHRM2_uc003vtm.1_Missense_Mutation_p.M142I|CHRM2_uc003vtj.1_Missense_Mutation_p.M142I|CHRM2_uc003vtk.1_Missense_Mutation_p.M142I|CHRM2_uc003vtl.1_Missense_Mutation_p.M142I|CHRM2_uc003vtn.1_Missense_Mutation_p.M142I|CHRM2_uc003vto.1_Missense_Mutation_p.M142I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M142I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	142					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGGCAGGTATGATGATTGCAG	0.502000														69			20		0	0	0.00152264	0	0
SBK1	388228	broad.mit.edu	37	16	28330371	28330371	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:28330371C>T	uc002dpd.3	+	2	1071	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	94	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGAAGAACTTCCTACGGGAGG	0.522000														134			14		0	0	0.000422831	0	0
ASXL3	80816	broad.mit.edu	37	18	31323893	31323893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:31323893C>T	uc010dmg.1	+	11	4136	c.4081C>T	c.(4081-4083)Ccc>Tcc	p.P1361S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1068S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTCTTGATTCCCCCAATGGG	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		130			21		0	0	0.00152264	0	0
NSMAF	8439	broad.mit.edu	37	8	59512321	59512321	+	Missense_Mutation	SNP	G	A	A	rs140579437	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:59512321G>A	uc011lee.2	-	17	1595	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	NSMAF_uc003xtt.3_Missense_Mutation_p.P481S	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	481	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GAAGCCCAAGGGGGAAGCTCC	0.418000														79			18		0	0	0.00152264	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999120	92999120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:92999120C>T	uc022axs.1	-	7	1436	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D331N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D331N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D321N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D358N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D358N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D331N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D369N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D338N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D358N|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D321N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	358					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTACATGGTCAAGATGTTTC	0.378000														121			16		0	0	0.00121646	0	0
CCDC170	80129	broad.mit.edu	37	6	151894598	151894598	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:151894598T>C	uc003qol.3	+	5	1153	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	355																	ATTCGAGAAATGGACAGCCGG	0.493000														48			8		0	0	0.000673444	0	0
SHE	126669	broad.mit.edu	37	1	154471638	154471638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:154471638C>T	uc001ffb.3	-	1	692	c.668G>A	c.(667-669)gGa>gAa	p.G223E	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	223										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCGTTCTCTCCGACTCTCTC	0.438000														84			16		0	0	0.00074312	0	0
IL36RN	26525	broad.mit.edu	37	2	113820103	113820103	+	Missense_Mutation	SNP	G	A	A	rs144420774		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:113820103G>A	uc002tis.3	+	4	450	c.317G>A	c.(316-318)gGg>gAg	p.G106E	IL36RN_uc002tit.3_Missense_Mutation_p.G106E	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	106						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGACATGGGGCTCACCTCC	0.607000														50			7		0	0	0.00198382	0	0
SARDH	1757	broad.mit.edu	37	9	136573510	136573510	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:136573510G>A	uc004cep.4	-	10	1503	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	SARDH_uc004ceo.3_Nonsense_Mutation_p.R457*|SARDH_uc011mdo.2_Nonsense_Mutation_p.R289*|SARDH_uc011mdn.2_Nonsense_Mutation_p.R457*	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	457					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			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)		CTTCGCTCTCGGATCCAGCGG	0.657000														109			7		0	0	0.000274275	0	0
NMUR2	56923	broad.mit.edu	37	5	151784537	151784537	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:151784537G>A	uc003luv.2	-	0	304	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	46					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGACACGGGGAGGAAGAAGT	0.547000														48			6		0	0	0.00198382	0	0
OR10P1	121130	broad.mit.edu	37	12	56030861	56030861	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:56030861C>G	uc010spq.2	+	0	186	c.186C>G	c.(184-186)ttC>ttG	p.F62L		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTACTTCTTCCTGCGCCAAC	0.602000														77			12		0	0	0.000958276	0	0
LRTM1	57408	broad.mit.edu	37	3	54952717	54952717	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:54952717C>G	uc003dhl.3	-	2	941	c.807G>C	c.(805-807)ttG>ttC	p.L269F	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	269						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCGCACTCCAAGAGTTCTC	0.607000														56			8		0	0	0.000157383	0	0
ZNF208	7757	broad.mit.edu	37	19	22156964	22156964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:22156964C>T	uc021urr.1	-	3	1021	c.872G>A	c.(871-873)gGc>gAc	p.G291D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				AAAGGCTTTGCCACATTCTTC	0.388000														38			10		0	0	0.000673444	0	0
MAPK3	5595	broad.mit.edu	37	16	30129473	30129473	+	Silent	SNP	G	A	A	rs143182888		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:30129473G>A	uc002dws.3	-	3	655	c.555C>T	c.(553-555)ttC>ttT	p.F185F	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.F71F|MAPK3_uc002dwv.4_Silent_p.F185F|MAPK3_uc002dwt.3_Silent_p.F185F	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	185	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGGCCAGGCCGAAATCACAAA	0.592000														27			8		0	0	0.000442599	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608458	112608458	+	Silent	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:112608458T>G	uc002thi.3	-	13	1792	c.1545A>C	c.(1543-1545)ccA>ccC	p.P515P		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	515					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						GAGAGGGAGCTGGCAGTCCAG	0.403000														56			10		0	0	0.00136819	0	0
FAM116A	201627	broad.mit.edu	37	3	57616707	57616707	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:57616707T>C	uc003dja.3	-	16	1425	c.1354_splice	c.e16-1	p.E452_splice		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	452										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		ATATCTTTCCTAAAACCAAGA	0.313000														80			8		0	0	0.000274275	0	0
ACTR3	10096	broad.mit.edu	37	2	114714970	114714970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:114714970G>A	uc002tkx.1	+	11	1515	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	ACTR3_uc010yyc.1_Missense_Mutation_p.D337N|ACTR3_uc010yyd.1_Missense_Mutation_p.D348N	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	399					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CACCAAAAAGGATTATGAAGA	0.368000														90			5		0	0	0.00198382	0	0
PCDH15	65217	broad.mit.edu	37	10	55600246	55600246	+	Missense_Mutation	SNP	G	A	A	rs111033363	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:55600246G>A	uc010qhy.1	-	29	4227	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	PCDH15_uc010qhq.2_Missense_Mutation_p.R1278C|PCDH15_uc010qhr.2_Missense_Mutation_p.R1273C|PCDH15_uc021pqv.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqw.1_Missense_Mutation_p.R1285C|PCDH15_uc010qht.2_Missense_Mutation_p.R1280C|PCDH15_uc021pqx.1_Missense_Mutation_p.R1273C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqz.1_Missense_Mutation_p.R1251C|PCDH15_uc010qhv.1_Missense_Mutation_p.R1273C|PCDH15_uc010qhw.1_Missense_Mutation_p.R1236C|PCDH15_uc010qhx.1_Missense_Mutation_p.R1202C|PCDH15_uc010qhz.1_Missense_Mutation_p.R1273C|PCDH15_uc010qia.1_Missense_Mutation_p.R1251C|PCDH15_uc001jju.1_Missense_Mutation_p.R1273C|PCDH15_uc010qib.1_Missense_Mutation_p.R1251C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1273					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAACATAGCGATCCAAGATC	0.408000										HNSCC(58;0.16)				46			6		0	0	0.00116845	0	0
MUC13	56667	broad.mit.edu	37	3	124627062	124627062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:124627062C>T	uc003ehq.2	-	10	1507	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	490						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCTCTGGAGGCCGTTATCCTG	0.493000														59			5		0	0	0.00116845	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290791	141290791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:141290791G>A	uc022cfj.1	-	0	983	c.983C>T	c.(982-984)tCc>tTc	p.S328F	MAGEC2_uc004fbu.2_Missense_Mutation_p.S328F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	328	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGGAAAGGAACTAGGAAC	0.458000										HNSCC(46;0.14)				50			30		0	0	0.00178596	0	0
COG7	91949	broad.mit.edu	37	16	23415116	23415116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:23415116G>A	uc002dlo.3	-	12	1899	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	568					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)		AGCGCTGCTCGAGGTGCAGCC	0.502000														43			11		0	0	0.000673444	0	0
PHF2	5253	broad.mit.edu	37	9	96437255	96437255	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:96437255C>T	uc004aub.3	+	18	2820	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	PHF2_uc011lug.1_Silent_p.S774S|PHF2_uc004auc.3_Silent_p.S311S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	891					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)		TCTTTAAGTCCCGGTCGAAGA	0.597000														64			11		0	0	0.000422831	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417175	150417175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:150417175G>A	uc003whq.3	+	2	223	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.R28Q	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.R28Q(1)									GAGTCCACGCGGAGGCTCATC	0.557000														279			19		0	0	0.00278032	0	0
ZNF180	7733	broad.mit.edu	37	19	44982298	44982298	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:44982298C>A	uc002ozf.4	-	4	682	c.400G>T	c.(400-402)Gct>Tct	p.A134S	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Missense_Mutation_p.A107S|ZNF180_uc002ozg.4_Missense_Mutation_p.A133S|ZNF180_uc010ejm.3_Missense_Mutation_p.A109S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	134	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ACTCCATTAGCTGGTTCTTCA	0.373000														79			10		2.17888e-05	7.88217e-05	0.000442599	1	0
DYSF	8291	broad.mit.edu	37	2	71909735	71909735	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:71909735G>A	uc010fen.3	+	54	6390	c.6249G>A	c.(6247-6249)cgG>cgA	p.R2083R	DYSF_uc010fei.3_Silent_p.R2061R|DYSF_uc010feh.3_Silent_p.R2051R|DYSF_uc002sig.4_Silent_p.R2030R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R2075R|DYSF_uc010fee.3_Silent_p.R2065R|DYSF_uc010fef.3_Silent_p.R2082R|DYSF_uc002sie.3_Silent_p.R2044R|DYSF_uc010feo.3_Silent_p.R2076R|DYSF_uc010fej.3_Silent_p.R2052R|DYSF_uc010fel.3_Silent_p.R2031R|DYSF_uc010fem.3_Silent_p.R2066R|DYSF_uc002sif.3_Silent_p.R2045R|DYSF_uc010fek.3_Silent_p.R2062R|DYSF_uc010yqy.2_Silent_p.R925R|DYSF_uc010yqz.2_Silent_p.R805R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2044						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCGTTTCCGGTGGGCcatca	0.582000														59			17		0	0	0.000958276	0	0
SALL1	6299	broad.mit.edu	37	16	51173168	51173168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:51173168G>A	uc021tif.1	-	1	2996	c.2674C>T	c.(2674-2676)Ctc>Ttc	p.L892F	SALL1_uc021tid.1_Missense_Mutation_p.L892F|SALL1_uc021tie.1_Missense_Mutation_p.L989F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	989					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	p.G891V(1)		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)			AAAGGGAAGAGGATCCCCAAA	0.433000														43			5		0	0	0.00116845	0	0
ADCY8	114	broad.mit.edu	37	8	131826335	131826335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:131826335C>T	uc003ytd.4	-	13	3149	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	ADCY8_uc010mds.3_Missense_Mutation_p.E834K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	965					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGGTCCTTCTCTAGGAAATGG	0.522000										HNSCC(32;0.087)				74			17		0	0	0.00152264	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268042	103268042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:103268042C>T	uc004elr.3	-	0	215	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	64					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ATGGCGCCCTCGCTTCCTCTG	0.637000														21			10		0	0	0.000442599	0	0
ECM2	1842	broad.mit.edu	37	9	95284988	95284988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:95284988C>T	uc011lty.2	-	1	348	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G54E|ECM2_uc004asg.3_Missense_Mutation_p.G54E|ECM2_uc011ltz.1_Missense_Mutation_p.G54E|ECM2_uc004asi.3_Missense_Mutation_p.G54E	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	54					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTGCTGAATTCCAAGCTGTCT	0.373000														139			9		0	0	0.00136819	0	0
abParts	0	broad.mit.edu	37	14	107099220	107099220	+	RNA	SNP	A	T	T	rs148129115	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:107099220A>T	uc021ser.1	-	109		c.4854T>A								Parts of antibodies, mostly variable regions.																		GTCTCTGGAGATGGTGAATCG	0.498000														49			4		0	0	0.00024832	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581075	1581075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:1581075C>T	uc003wpl.3	+	4	1530	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	DLGAP2_uc003wpm.3_Missense_Mutation_p.A478V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	557					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCATGGATGCCCTCGACCTC	0.532000														38			7		0	0	0.00198382	0	0
GSTM4	2948	broad.mit.edu	37	1	110217428	110217428	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:110217428C>T	uc001dyi.3	+	7	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F	GSTM4_uc001dyj.3_Silent_p.F209F|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	209			Y -> F (in dbSNP:rs2229053).		xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACCTGTGTTCACAAAGATGG	0.582000														151			40		0	0	0.00222228	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202466597	202466597	+	Silent	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:202466597T>C	uc002uyf.3	-	3	433	c.381A>G	c.(379-381)caA>caG	p.Q127Q	ALS2CR11_uc002uye.3_Silent_p.Q127Q|ALS2CR11_uc010fti.3_Silent_p.Q127Q|ALS2CR11_uc021vvc.1_Silent_p.Q127Q	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	127										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAGCATAATGTTGTAAACTGA	0.269000														51			6		0	0	0.00198382	0	0
TARBP1	6894	broad.mit.edu	37	1	234586267	234586267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:234586267G>A	uc001hwd.3	-	9	1768	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	590					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTACACGTAGGGGATGGCTTA	0.358000														86			23		0	0	0.000586117	0	0
APOH	350	broad.mit.edu	37	17	64225487	64225487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:64225487G>A	uc002jfn.4	-	0	70	c.11C>T	c.(10-12)cCa>cTa	p.P4L		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	4					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GATGAGCACTGGAGAAATCAT	0.383000														22			5		0	0	0.00116845	0	0
ADAM2	2515	broad.mit.edu	37	8	39626988	39626988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39626988G>A	uc003xnj.3	-	11	1210	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ADAM2_uc003xnk.3_Missense_Mutation_p.P360S|ADAM2_uc011lck.2_Missense_Mutation_p.P379S|ADAM2_uc003xnl.3_Missense_Mutation_p.P253S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	379					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGAAAAAAGGATCTAAGCGA	0.443000														79			17		0	0	0.000566183	0	0
OR2T2	401992	broad.mit.edu	37	1	248616305	248616305	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:248616305C>T	uc001iek.1	+	0	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68F(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AGCTCTCCATCATGGATACCA	0.512000														194			12		0	0	0.000720815	0	0
OR5L1	219437	broad.mit.edu	37	11	55579281	55579281	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:55579281C>T	uc001nhw.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGAGGTCTTCCTGCTGGCCG	0.483000														138			24		0	0	0.00278032	0	0
TBRG4	9238	broad.mit.edu	37	7	45145221	45145221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:45145221G>A	uc011kcd.2	-	2	636	c.587C>T	c.(586-588)gCc>gTc	p.A196V	TBRG4_uc003tmu.3_Missense_Mutation_p.A10V|TBRG4_uc003tmv.3_Missense_Mutation_p.A185V|TBRG4_uc003tmw.3_Missense_Mutation_p.A185V|TBRG4_uc003tmx.3_Missense_Mutation_p.A185V|SNORA5A_uc003tmy.3_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	185					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.S195L(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGCCAGGAAGGCCAGGTGCTT	0.612000														95			31		0	0	0.001512	0	0
RASSF2	9770	broad.mit.edu	37	20	4766926	4766926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:4766926G>A	uc002wld.3	-	9	916	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Nonsense_Mutation_p.Q288*	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	288	SARAH.				cell cycle|signal transduction	nucleus	protein binding	p.Q288E(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGGAGCTTCTGAATGAAGCTT	0.498000														251			36		0	0	0.000692331	0	0
HTT	3064	broad.mit.edu	37	4	3213790	3213790	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:3213790C>T	uc021xkv.1	+	47	6694	c.6549C>T	c.(6547-6549)ctC>ctT	p.L2183L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2183					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCAGCAGCTCCCTGCTGTCC	0.532000														65			5		0	0	0.000602214	0	0
FAM123B	139285	broad.mit.edu	37	X	63410310	63410310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:63410310G>A	uc022byb.1	-	0	2857	c.2857C>T	c.(2857-2859)Cca>Tca	p.P953S	FAM123B_uc004dvo.3_Missense_Mutation_p.P953S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	953	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TAGGCCCCTGGGGGTTCAGTA	0.592000														14			15		0	0	0.000422831	0	0
USP43	124739	broad.mit.edu	37	17	9631342	9631343	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:9631342_9631343TC>CT	uc010cod.3	+	14	2407_2408	c.2407_2408TC>CT	c.(2407-2409)tcc>CTc	p.S803L	USP43_uc002gma.4_Missense_Mutation_p.S492L|USP43_uc010vva.2_Missense_Mutation_p.S798L|USP43_uc010coe.3_Missense_Mutation_p.S600L|USP43_uc002gmc.4_Missense_Mutation_p.S315L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	803					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACCCACCACTTCCCGAGCCAAG	0.564000														40			4		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179428070	179428070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179428070C>T	uc021vsy.1	-	274	75310	c.75085G>A	c.(75085-75087)Gat>Aat	p.D25029N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D18724N|TTN_uc021vta.1_Missense_Mutation_p.D18657N|TTN_uc021vtb.1_Missense_Mutation_p.D18532N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25956	Ig-like 123.						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)			GCGCCACCATCATAAATTGGC	0.498000														53			8		0	0	0.000157383	0	0
SCN5A	6331	broad.mit.edu	37	3	38645372	38645372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38645372C>T	uc021wvo.1	-	10	1773	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SCN5A_uc021wvk.1_Missense_Mutation_p.G574E|SCN5A_uc021wvl.1_Missense_Mutation_p.G574E|SCN5A_uc021wvm.1_Missense_Mutation_p.G574E|SCN5A_uc021wvn.1_Missense_Mutation_p.G574E|SCN5A_uc021wvp.1_Missense_Mutation_p.G574E|SCN5A_uc021wvq.1_Missense_Mutation_p.G574E|SCN5A_uc021wvr.1_Missense_Mutation_p.G574E|SCN5A_uc021wvs.1_Missense_Mutation_p.G574E|SCN5A_uc021wvt.1_Missense_Mutation_p.G574E|SCN5A_uc021wvu.1_Missense_Mutation_p.G574E|SCN5A_uc021wvv.1_Missense_Mutation_p.G574E|SCN5A_uc021wvj.1_Missense_Mutation_p.G440E|SCN5A_uc021wvi.1_Missense_Mutation_p.G440E|SCN5A_uc021wvw.1_Missense_Mutation_p.G185E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	574					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)	ACTGGGCTGTCCCTGGGCACT	0.627000														88			27		0	0	0.00127121	0	0
TGM2	7052	broad.mit.edu	37	20	36784484	36784484	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:36784484G>A	uc002xhr.3	-	2	298	c.198C>T	c.(196-198)gcC>gcT	p.A66A	TGM2_uc010zvx.2_Intron|TGM2_uc010zvy.2_Silent_p.A6A|TGM2_uc002xhs.1_Intron|TGM2_uc002xht.3_Silent_p.A66A|TGM2_uc002xhu.3_Silent_p.A66A	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	66					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCTGGCTAGGGGCTGGGCCTG	0.667000														29			5		0	0	0.00198382	0	0
COL1A2	1278	broad.mit.edu	37	7	94041986	94041986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:94041986G>A	uc003ung.1	+	24	1966	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	499					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACCCAAAGGCCCCACTGT	0.527000										HNSCC(75;0.22)				41			8		0	0	0.000442599	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058027	152058027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152058027C>T	uc001ezo.1	-	2	2196	c.2131G>A	c.(2131-2133)Gga>Aga	p.G711R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	711							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTGCTCTTCCTTTCTCTTCT	0.443000														147			26		0	0	0.000586117	0	0
OR8H1	219469	broad.mit.edu	37	11	56058178	56058178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56058178G>A	uc010rje.2	-	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCTACGTAGCGATCATAGGCC	0.438000														85			30		0	0	0.00127121	0	0
ABCC11	85320	broad.mit.edu	37	16	48218385	48218385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:48218385G>A	uc002eff.1	-	21	3574	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	ABCC11_uc002efg.1_Missense_Mutation_p.S1075F|ABCC11_uc002efh.1_Missense_Mutation_p.S1075F|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1075	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTAAAGGAGTAGGGGGT	0.557000														59			15		0	0	0.000308642	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447069	17447069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:17447069C>T	uc003wxr.3	+	2	593	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	50						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GCCCAAAATTCCTAAAATGAA	0.468000														138			24		0	0	0.00278032	0	0
DNAH5	1767	broad.mit.edu	37	5	13859660	13859660	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:13859660G>A	uc003jfd.2	-	29	4893	c.4851C>T	c.(4849-4851)aaC>aaT	p.N1617N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1617	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)					TGTCTGTTGAGTTGGAAAGGT	0.428000									Kartagener syndrome					133			35		0	0	0.000953801	0	0
RBM46	166863	broad.mit.edu	37	4	155749083	155749083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:155749083G>A	uc003ioo.3	+	4	1639	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	489							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTCTCTTCTGGGACTCCCAGC	0.418000														257			40		0	0	0.00148497	0	0
F3	2152	broad.mit.edu	37	1	95001606	95001606	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95001606G>A	uc001dqr.3	-	2	548	c.327C>T	c.(325-327)tcC>tcT	p.S109S	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Silent_p.S109S	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	109					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTGCAGGGTAGGAGAAGACCC	0.522000														175			36		0	0	0.00058488	0	0
OR2G3	81469	broad.mit.edu	37	1	247769216	247769216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:247769216C>T	uc010pyz.2	+	0	329	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGGCTCCACTGAATGTATC	0.493000														241			55		0	0	0.000781405	0	0
USP2	9099	broad.mit.edu	37	11	119229960	119229960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:119229960G>A	uc001pwm.4	-	4	1337	c.1042C>T	c.(1042-1044)Ccg>Tcg	p.P348S	USP2_uc001pwl.4_Missense_Mutation_p.P139S|USP2_uc001pwn.4_Missense_Mutation_p.P105S	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	348					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.A347V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACAAAGCGCGGTGCGTATCTC	0.502000														31			6		0	0	0.000157383	0	0
HHAT	55733	broad.mit.edu	37	1	210796966	210796966	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:210796966G>C	uc010psr.2	+	9	1450	c.1345G>C	c.(1345-1347)Ggg>Cgg	p.G449R	HHAT_uc009xcx.3_Missense_Mutation_p.G448R|HHAT_uc010psq.2_Missense_Mutation_p.G311R|HHAT_uc009xcy.3_Missense_Mutation_p.G383R|HHAT_uc010pss.2_Missense_Mutation_p.G403R|HHAT_uc010pst.2_Missense_Mutation_p.G385R|HHAT_uc001hhz.4_Missense_Mutation_p.G448R|HHAT_uc021pip.1_Missense_Mutation_p.G448R|HHAT_uc010psu.2_Missense_Mutation_p.G383R|HHAT_uc001hia.4_Missense_Mutation_p.G138R	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	448	GTP-binding (Probable).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.G448W(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGTATTTCTTGGGGGCAATGA	0.488000														260			16		0	0	0.000422831	0	0
C18orf25	147339	broad.mit.edu	37	18	43842988	43842988	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr18:43842988G>A	uc002lbw.3	+	4	1498	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	C18orf25_uc002lbx.3_Nonsense_Mutation_p.W312*	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	373										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CACAGTCATGGACTGCTGTGA	0.502000														58			9		0	0	0.000274275	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247447	55247447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:55247447G>A	uc002qgu.1	+	7	1135	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	373			E -> D (in allele KIR3DL3*027, allele KIR3DL3*029 and allele KIR3DL3*031).			integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.537000														135			18		0	0	0.00178596	0	0
RAB34	83871	broad.mit.edu	37	17	27042487	27042487	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:27042487G>A	uc010was.1	-	6	590	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	RAB34_uc002hce.2_Silent_p.L140L|RAB34_uc002hcg.2_Silent_p.L140L|RAB34_uc010wat.1_Silent_p.L197L|RAB34_uc002hch.2_Silent_p.L140L|RAB34_uc010wau.1_Silent_p.L118L|RAB34_uc010wav.1_Silent_p.L198L	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	140			V -> L (in dbSNP:rs12125).		protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GTATGTTCCAGAGATGCCACA	0.493000														66			8		0	0	0.000274275	0	0
C7	730	broad.mit.edu	37	5	40958291	40958291	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:40958291T>C	uc003jmh.3	+	10	1531	c.1417T>C	c.(1417-1419)Tgt>Cgt	p.C473R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	473	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGGGACCCATTGTCTGTGCCA	0.502000														83			8		0	0	0.000442599	0	0
DSCAM	1826	broad.mit.edu	37	21	41741076	41741076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41741076C>T	uc002yyq.1	-	3	1057	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGGTGTATCGATGCCGCGT	0.433000														73			14		0	0	0.00244969	0	0
PRSS55	203074	broad.mit.edu	37	8	10388838	10388838	+	Silent	SNP	C	T	T	rs35035741		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:10388838C>T	uc003wta.3	+	2	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.N127N|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	127	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N127N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507000														163			12		0	0	0.00136819	0	0
LRP2	4036	broad.mit.edu	37	2	169995190	169995190	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:169995190T>C	uc002ues.3	-	74	13628	c.13415A>G	c.(13414-13416)gAa>gGa	p.E4472G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTCCCATTTTCAGAGGGCTT	0.413000														42			8		0	0	0.000157383	0	0
ERAP2	64167	broad.mit.edu	37	5	96251465	96251465	+	Silent	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:96251465T>C	uc003kmq.3	+	17	3441	c.2731T>C	c.(2731-2733)Ttg>Ctg	p.L911L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.L911L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.L860L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	911					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CAAGGATAAGTTGCAAGAGGT	0.318000														149			15		0	0	0.00074312	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7807617	7807617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:7807617G>A	uc010lro.1	+	4	484	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	68	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						GCTGTGGTGGGAAGGAAGAGT	0.408000														10			4		0	0	0.000274275	0	0
C9	735	broad.mit.edu	37	5	39285309	39285309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:39285309C>T	uc003jlv.4	-	10	1761	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	558					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCTATTTTTCATTGGGGAAC	0.408000														60			16		0	0	0.00229938	0	0
SLFN13	146857	broad.mit.edu	37	17	33769237	33769237	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:33769237G>C	uc002hjk.1	-	2	1597	c.1267C>G	c.(1267-1269)Cta>Gta	p.L423V	SLFN13_uc010wch.1_Missense_Mutation_p.L423V|SLFN13_uc002hjl.2_Missense_Mutation_p.L423V|SLFN13_uc002hjm.2_Missense_Mutation_p.L92V|SLFN13_uc010ctt.2_Missense_Mutation_p.L105V	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	423						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACTCCTTTAGTCCTTCATGC	0.463000														57			7		0	0	0.000274275	0	0
PRB2	653247	broad.mit.edu	37	12	11546119	11546119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:11546119C>T	uc010shk.1	-	2	928	c.893G>A	c.(892-894)cGa>cAa	p.R298Q		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.612000														250			30		0	0	0.000814825	0	0
COL5A2	1290	broad.mit.edu	37	2	189927767	189927767	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:189927767T>G	uc002uqk.3	-	27	2167	c.1892A>C	c.(1891-1893)gAa>gCa	p.E631A	COL5A2_uc010frx.3_Missense_Mutation_p.E207A	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	631					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTTCCTGCTTCTCCAGGTTT	0.363000														167			10		0	0	0.00136819	0	0
OR2T10	127069	broad.mit.edu	37	1	248756553	248756553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:248756553C>T	uc010pzn.2	-	0	517	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TGCTGAATCTCATGGGATCTG	0.502000														80			21		0	0	0.00229938	0	0
COL7A1	1294	broad.mit.edu	37	3	48616931	48616931	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:48616931C>T	uc003ctz.2	-	58	5254	c.5253G>A	c.(5251-5253)cgG>cgA	p.R1751R	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1751	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGGGGTCCCCGAAACCCTT	0.607000														25			6		0	0	0.00198382	0	0
IQCF3	401067	broad.mit.edu	37	3	51864696	51864696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:51864696C>T	uc021wyy.1	+	6	1132	c.344C>T	c.(343-345)gCt>gTt	p.A115V	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.A115V	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	115	IQ.							p.A115V(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCAATGCTCTCTGCTTG	0.547000														80			8		0	0	0.000442599	0	0
MUC17	140453	broad.mit.edu	37	7	100677796	100677796	+	Silent	SNP	A	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:100677796A>T	uc003uxp.1	+	2	3152	c.3099A>T	c.(3097-3099)ccA>ccT	p.P1033P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1033	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)					CCAGCATGCCAACCTCAACTC	0.502000														322			22		0	0	0.000878237	0	0
AMELX	265	broad.mit.edu	37	X	11316686	11316686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:11316686G>A	uc004cus.3	+	5	273	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.E55K|AMELX_uc004cuu.3_Missense_Mutation_p.E39K	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	55					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTATGGTTACGAGCCCATGGG	0.547000														56			6		0	0	0.000157383	0	0
NUDT4	11163	broad.mit.edu	37	12	93793086	93793086	+	Silent	SNP	C	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:93793086C>A	uc010sup.2	+	4	875	c.477C>A	c.(475-477)tcC>tcA	p.S159S	NUDT4_uc001tcm.3_Silent_p.S158S|NUDT4_uc001tcn.3_Silent_p.S106S|NUDT4_uc010suq.2_Silent_p.S107S|NUDT4_uc001tco.3_Silent_p.S106S	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	158					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CAGTCCCTTCCCTTCCGGATA	0.473000														246			10		1.08611e-07	3.95115e-07	0.000978159	1	0
PTPRB	5787	broad.mit.edu	37	12	70933765	70933765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:70933765G>A	uc001swb.4	-	21	5008	c.4978C>T	c.(4978-4980)Cgt>Tgt	p.R1660C	PTPRB_uc010sto.2_Missense_Mutation_p.R1570C|PTPRB_uc010stp.2_Missense_Mutation_p.R1570C|PTPRB_uc001swc.4_Missense_Mutation_p.R1878C|PTPRB_uc001swa.4_Missense_Mutation_p.R1790C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1660					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGATCCCTACGAATGCTCAGA	0.408000														47			5		0	0	0.000602214	0	0
NRG1	3084	broad.mit.edu	37	8	32614018	32614018	+	Missense_Mutation	SNP	C	A	A	rs75779200		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:32614018C>A	uc003xiv.2	+	8	1418	c.901C>A	c.(901-903)Cca>Aca	p.P301T	NRG1_uc022ats.1_Missense_Mutation_p.P251T|NRG1_uc011lbf.1_Missense_Mutation_p.P298T|NRG1_uc010lvo.2_Missense_Mutation_p.P298T|NRG1_uc003xiu.2_Missense_Mutation_p.P306T|NRG1_uc003xiw.2_Missense_Mutation_p.P298T|NRG1_uc003xit.2_Missense_Mutation_p.P301T|NRG1_uc010lvr.2_Missense_Mutation_p.P43T|NRG1_uc010lvs.2_Missense_Mutation_p.P43T|NRG1_uc010lvp.2_Missense_Mutation_p.P255T|NRG1_uc010lvq.2_Missense_Mutation_p.P231T|NRG1_uc011lbg.1_Missense_Mutation_p.P147T|NRG1_uc011lbh.1_Missense_Mutation_p.P144T|NRG1_uc003xja.2_Missense_Mutation_p.P112T	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	301					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCATCCTAACCCACCCCCCGA	0.498000														97			10		0.000978159	0.00351883	0.000978159	1	0
FZD6	8323	broad.mit.edu	37	8	104337156	104337156	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:104337156C>T	uc003ylh.3	+	3	1112	c.822C>T	c.(820-822)gtC>gtT	p.V274V	FZD6_uc011lhn.2_Silent_p.V242V|FZD6_uc003ylj.3_Silent_p.V274V|FZD6_uc011lho.2_Intron|FZD6_uc011lhp.2_Silent_p.V219V	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	274					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACACTGTTGTCCTAGGCTCTC	0.423000														50			15		0	0	0.00244969	0	0
PPIC	5480	broad.mit.edu	37	5	122365059	122365059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:122365059G>A	uc003kth.3	-	1	277	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	PPIC_uc011cwp.1_Missense_Mutation_p.L58F	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	58	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TTTCCAAAGAGGCCAATCACA	0.403000														114			25		0	0	0.00106085	0	0
MGAT5	4249	broad.mit.edu	37	2	135076307	135076307	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:135076307T>G	uc002ttw.4	+	3	715	c.570T>G	c.(568-570)agT>agG	p.S190R		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	190					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.L189L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTTACCTCAGTGAGGTGAGTA	0.453000														103			7		0	0	0.000157383	0	0
MRC2	9902	broad.mit.edu	37	17	60766270	60766270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:60766270G>A	uc002jad.3	+	22	3685	c.3283G>A	c.(3283-3285)Gat>Aat	p.D1095N	MRC2_uc002jae.3_Missense_Mutation_p.D166N|MRC2_uc002jaf.3_Silent_p.T40T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1095	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCGCTGGGACGATCGGAGCTG	0.672000														47			6		0	0	0.000157383	0	0
CES5A	221223	broad.mit.edu	37	16	55880368	55880368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:55880368G>A	uc021tir.1	-	13	1956	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	CES5A_uc002eip.2_Missense_Mutation_p.P575S|CES5A_uc002eio.2_Missense_Mutation_p.P525S|CES5A_uc002eiq.2_Missense_Mutation_p.P336S|CES5A_uc002eir.2_Missense_Mutation_p.P469S	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	575						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACTTCTCAAGGAGCACAAAAG	0.468000														65			15		0	0	0.00244969	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503920	140503920	+	Silent	SNP	G	A	A	rs144682616		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:140503920G>A	uc003lip.1	+	0	2340	c.2340G>A	c.(2338-2340)agG>agA	p.R780R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	780					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCGGGAGGGAAGTTAAGG	0.448000														45			4		0	0	0.00198382	0	0
OR10G4	390264	broad.mit.edu	37	11	123886812	123886812	+	Silent	SNP	C	T	T	rs3017764		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:123886812C>T	uc010sac.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCACTACTTCTGTGACGCAC	0.552000														157			16		0	0	0.000958276	0	0
CDH10	1008	broad.mit.edu	37	5	24535336	24535336	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:24535336G>A	uc003jgr.2	-	4	1205	c.699C>T	c.(697-699)taC>taT	p.Y233Y	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	233	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACCACTTGGTATTGCTCTC	0.448000										HNSCC(23;0.051)				78			11		0	0	0.00244969	0	0
USP33	23032	broad.mit.edu	37	1	78191366	78191366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:78191366G>A	uc001dht.3	-	11	1657	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	USP33_uc001dhs.3_Missense_Mutation_p.S158L|USP33_uc001dhu.3_Missense_Mutation_p.S406L|USP33_uc001dhv.3_Missense_Mutation_p.S242L|USP33_uc001dhw.3_Missense_Mutation_p.S437L	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	437					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGGGCTTGCCGATAAACGTGG	0.403000														67			10		0	0	0.000978159	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:145393464C>T	uc003lnt.3	+	4	1137	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S300F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000														74			12		0	0	0.00244969	0	0
MYO18B	84700	broad.mit.edu	37	22	26422903	26422903	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26422903G>A	uc003abz.1	+	42	7213	c.6963G>A	c.(6961-6963)ttG>ttA	p.L2321L	MYO18B_uc003aca.1_Silent_p.L2202L|MYO18B_uc010guy.1_Silent_p.L2203L|MYO18B_uc010guz.1_Silent_p.L2201L|MYO18B_uc011aka.1_Silent_p.L1475L|MYO18B_uc011akb.1_Silent_p.L1834L|MYO18B_uc010gva.1_Silent_p.L304L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2321						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGGTCTCTTGAGGTCCACCA	0.582000														44			13		0	0	0.00244969	0	0
OR2W1	26692	broad.mit.edu	37	6	29012641	29012641	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:29012641G>C	uc003nlw.2	-	0	312	c.312C>G	c.(310-312)taC>taG	p.Y104*	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CCAACCACATGTAAACATAGA	0.438000														41			11		0	0	0.000673444	0	0
PLCE1	51196	broad.mit.edu	37	10	96018860	96018860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:96018860C>T	uc001kjk.3	+	12	4401	c.3767C>T	c.(3766-3768)aCc>aTc	p.T1256I	PLCE1_uc010qnx.2_Missense_Mutation_p.T1240I|PLCE1_uc001kjm.3_Missense_Mutation_p.T948I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1256					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)				CCACTCTACACCAACCTGACA	0.473000														114			22		0	0	0.000586117	0	0
MOV10	4343	broad.mit.edu	37	1	113232048	113232048	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:113232048T>C	uc001eck.3	+	3	623	c.353T>C	c.(352-354)cTt>cCt	p.L118P	MOV10_uc001ecl.2_Missense_Mutation_p.L118P|MOV10_uc001ecn.3_Missense_Mutation_p.L118P|MOV10_uc001ecm.3_Missense_Mutation_p.L58P|MOV10_uc009wgj.1_Missense_Mutation_p.L58P	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	118					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTGAGTATCTTCATGGGAAA	0.597000														64			10		0	0	0.00244969	0	0
DAB2IP	153090	broad.mit.edu	37	9	124521267	124521267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:124521267C>T	uc004bln.3	+	4	592	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	DAB2IP_uc004blo.3_Missense_Mutation_p.P79S	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	203	PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCGGTGCATCCCAACAAGGT	0.572000														35			5		0	0	0.000602214	0	0
DSPP	1834	broad.mit.edu	37	4	88534086	88534086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:88534086G>A	uc003hqu.3	+	3	868	c.748G>A	c.(748-750)Gga>Aga	p.G250R		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	250					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGTGGGAATGGAGCAGATGA	0.498000														66			12		0	0	0.000308642	0	0
KIF21B	23046	broad.mit.edu	37	1	200978520	200978520	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:200978520C>T	uc001gvs.2	-	1	455	c.138G>A	c.(136-138)aaG>aaA	p.K46K	KIF21B_uc009wzl.2_Silent_p.K46K|KIF21B_uc001gvr.2_Silent_p.K46K|KIF21B_uc010ppn.2_Silent_p.K46K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	46	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGGTGAAGGCCTTGTCCTTCC	0.567000														56			10		0	0	0.000442599	0	0
TMEM219	124446	broad.mit.edu	37	16	29974552	29974552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:29974552C>T	uc002duw.2	+	1	255	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.L30F|TMEM219_uc010bzk.1_Missense_Mutation_p.L30F|TMEM219_uc010bzl.1_Non-coding_Transcript	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.	30						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CCTGCTGCTCCTTGGCCTCTC	0.657000														65			18		0	0	0.00074312	0	0
C1orf38	9473	broad.mit.edu	37	1	28209071	28209071	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:28209071G>A	uc001bpc.4	+	3	1264	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Silent_p.E216E|C1orf38_uc010ofo.2_Silent_p.E283E	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	412	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAAAGAGGAGGCAGAGA	0.627000														42			4		0	0	0.00024832	0	0
XIST	7503	broad.mit.edu	37	X	73065748	73065748	+	RNA	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:73065748G>A	uc004ebm.1	-	0		c.6841C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGGCCTTGGTGATCAGCACCC	0.507000														57			28		0	0	0.00209593	0	0
WDFY3	23001	broad.mit.edu	37	4	85731442	85731442	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:85731442A>G	uc003hpd.3	-	13	2351	c.1943T>C	c.(1942-1944)gTt>gCt	p.V648A	WDFY3_uc003hpf.3_Missense_Mutation_p.V648A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	648						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATCCTCCAACTTTCCTAAA	0.418000														39			11		0	0	0.00136819	0	0
PMS2P4	5382	broad.mit.edu	37	7	66760755	66760755	+	RNA	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:66760755C>T	uc003tvo.2	-	3		c.305G>A			PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA.																		TCCCAACCTTCGCCGATGCGT	0.517000														100			8		0	0	0.000442599	0	0
CSMD2	114784	broad.mit.edu	37	1	34033312	34033312	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:34033312T>C	uc001bxm.1	-	52	8438	c.8261A>G	c.(8260-8262)aAc>aGc	p.N2754S	CSMD2_uc001bxn.1_Missense_Mutation_p.N2731S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2731	Sushi 18.					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)				GTAGCTGTAGTTCTCCCCATT	0.557000														30			6		0	0	0.00198382	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683192	50683192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:50683192C>T	uc003day.2	+	8	1322	c.680C>T	c.(679-681)tCc>tTc	p.S227F	MAPKAPK3_uc003daz.2_Missense_Mutation_p.S227F|MAPKAPK3_uc003dba.2_Missense_Mutation_p.S227F|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.S227F	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	227	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GACATGTGGTCCCTGGGTGTC	0.597000														57			8		0	0	0.000274275	0	0
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:134670597C>T	uc003eqt.3	+	2	883	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R170L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463000														217			26		0	0	0.0024448	0	0
MPP3	4356	broad.mit.edu	37	17	41879100	41879100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:41879100G>A	uc002ieh.3	-	17	2063	c.1802C>T	c.(1801-1803)aCt>aTt	p.T601I	MPP3_uc002iei.4_Missense_Mutation_p.T576I|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	576					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TACCCAGTGAGTGTCCTTGCT	0.532000														85			9		0	0	0.000978159	0	0
CD1D	912	broad.mit.edu	37	1	158151902	158151902	+	Nonsense_Mutation	SNP	C	T	T	rs149673076	by1000genomes	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:158151902C>T	uc001frr.3	+	3	908	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	CD1D_uc009wsr.1_Nonsense_Mutation_p.Q137*|CD1D_uc009wss.3_Nonsense_Mutation_p.Q137*|CD1D_uc009wst.1_Nonsense_Mutation_p.Q33*	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	137					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGTAGCATTTCAAGGAAAAGA	0.507000														204			28		0	0	0.000720815	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603424	31603424	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:31603424C>T	uc003nvb.4	+	23	5688	c.5439C>T	c.(5437-5439)tcC>tcT	p.S1813S	PRRC2A_uc003nvc.4_Silent_p.S1813S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1813						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCCACAATCCAAGAACCTGG	0.597000														43			17		0	0	0.000566183	0	0
ZNF570	148268	broad.mit.edu	37	19	37975746	37975746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:37975746C>T	uc010efl.1	+	5	1509	c.1390C>T	c.(1390-1392)Cat>Tat	p.H464Y	ZNF570_uc002ogk.1_Missense_Mutation_p.H408Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H205Y	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGAGA	0.423000														72			15		0	0	0.000308642	0	0
FHL5	9457	broad.mit.edu	37	6	97058559	97058559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:97058559G>A	uc003pos.2	+	5	1032	c.616G>A	c.(616-618)Gac>Aac	p.D206N	FHL5_uc003pot.2_Missense_Mutation_p.D206N	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	206	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTCCAGAGACGACTATCCATT	0.433000														101			24		0	0	0.00106085	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097910	56097910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:56097910G>A	uc002rzi.3	-	10	1766	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	EFEMP1_uc002rzj.3_Missense_Mutation_p.T422I|EFEMP1_uc010ypc.2_Missense_Mutation_p.T284I	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	422	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	p.N421N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTATTGATGGTGTTGGCATA	0.418000														71			12		0	0	0.000978159	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574866	115574866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:115574866G>A	uc004eqi.3	+	4	695	c.564G>A	c.(562-564)atG>atA	p.M188I	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	188					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCATCCAAATGAATAAAAGCT	0.353000														20			19		0	0	0.00074312	0	0
FGF16	8823	broad.mit.edu	37	X	76709678	76709678	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:76709678G>C	uc011mqp.2	+	0	32	c.32G>C	c.(31-33)gGg>gCg	p.G11A		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	102					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CTGGCTGTGGGGCTGATCAGC	0.453000														16			4		0	0	0.00024832	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139326	93139326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:93139326G>A	uc001tcj.2	+	4	504	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	92	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTTTTATCTTGAGAGCCTGAG	0.403000														195			26		0	0	0.00178596	0	0
OR5M11	219487	broad.mit.edu	37	11	56310098	56310098	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56310098G>A	uc010rjl.2	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACACCAAGACGATGGTGAGGG	0.502000														46			7		0	0	0.00198382	0	0
DAB2	1601	broad.mit.edu	37	5	39383359	39383359	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:39383359G>A	uc003jlx.3	-	9	1233	c.702C>T	c.(700-702)atC>atT	p.I234I	DAB2_uc003jlw.3_Silent_p.I213I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	234					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.D233H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCACTAACAGGATATCTTTGC	0.348000														100			20		0	0	0.00278032	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888782	51888782	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:51888782C>T	uc001rys.1	+	20	3001	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F	SLC4A8_uc001rym.3_Silent_p.F888F|SLC4A8_uc001ryn.3_Silent_p.F888F|SLC4A8_uc001ryo.2_Silent_p.F888F|SLC4A8_uc010snj.2_Silent_p.F968F|SLC4A8_uc001ryr.3_Silent_p.F941F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	941					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCCAGATTTCATCTACCTGC	0.527000														94			14		0	0	0.000422831	0	0
TGM1	7051	broad.mit.edu	37	14	24718595	24718595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr14:24718595C>T	uc001wod.3	-	14	2502	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E	TGM1_uc010tog.2_Missense_Mutation_p.G351E	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	793					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GAAGAAGCCCCCATCCCCAGG	0.632000														51			5		0	0	0.00116845	0	0
BOC	91653	broad.mit.edu	37	3	112987254	112987254	+	Missense_Mutation	SNP	G	A	A	rs149634735		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:112987254G>A	uc003dzx.3	+	4	1106	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	BOC_uc010hqi.3_Missense_Mutation_p.R162Q|BOC_uc003dzy.3_Missense_Mutation_p.R162Q|BOC_uc003dzz.3_Missense_Mutation_p.R162Q|BOC_uc003eab.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	162	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCCAGGTCCGGTACAGCGTC	0.592000														21			5		0	0	0.000157383	0	0
TMEM186	25880	broad.mit.edu	37	16	8890377	8890377	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:8890377C>G	uc002cze.3	-	1	108	c.74G>C	c.(73-75)tGg>tCg	p.W25S	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	25						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTGCAGCACCACAGCCCATG	0.552000														65			4		0	0	0.00024832	0	0
SCN5A	6331	broad.mit.edu	37	3	38629053	38629053	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38629053C>T	uc021wvo.1	-	13	2326	c.2274G>A	c.(2272-2274)ggG>ggA	p.G758G	SCN5A_uc021wvk.1_Silent_p.G758G|SCN5A_uc021wvl.1_Silent_p.G758G|SCN5A_uc021wvm.1_Silent_p.G758G|SCN5A_uc021wvn.1_Silent_p.G758G|SCN5A_uc021wvp.1_Silent_p.G758G|SCN5A_uc021wvq.1_Silent_p.G758G|SCN5A_uc021wvr.1_Silent_p.G758G|SCN5A_uc021wvs.1_Silent_p.G758G|SCN5A_uc021wvt.1_Silent_p.G758G|SCN5A_uc021wvu.1_Silent_p.G758G|SCN5A_uc021wvv.1_Silent_p.G758G|SCN5A_uc021wvj.1_Silent_p.G624G|SCN5A_uc021wvi.1_Silent_p.G624G|SCN5A_uc021wvw.1_Silent_p.G369G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	758					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)	CTGTGAAAATCCCTGTGAAGA	0.537000														38			11		0	0	0.00244969	0	0
WDR17	116966	broad.mit.edu	37	4	177069353	177069353	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:177069353G>A	uc003iuj.3	+	13	2139	c.1836G>A	c.(1834-1836)gtG>gtA	p.V612V	WDR17_uc003ium.4_Silent_p.V588V|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	612										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGCACCTGTGAGAGGATTAA	0.408000														173			11		0	0	0.000422831	0	0
ARNT	405	broad.mit.edu	37	1	150811929	150811929	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:150811929G>A	uc001evr.2	-	5	675	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ARNT_uc001evs.2_Silent_p.F143F|ARNT_uc009wmd.2_Silent_p.F143F|ARNT_uc009wmb.2_Silent_p.F149F|ARNT_uc009wmc.2_Silent_p.F158F|ARNT_uc009wme.2_Silent_p.F158F|ARNT_uc010pcl.2_Silent_p.F142F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	158					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GATCAGTGAGGAAAGACGGCT	0.453000			T	ETV6	AML									151			14		0	0	0.000308642	0	0
DMBT1	1755	broad.mit.edu	37	10	124399818	124399818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:124399818C>T	uc001lgk.1	+	51	6924	c.6818C>T	c.(6817-6819)cCt>cTt	p.P2273L	DMBT1_uc001lgl.1_Missense_Mutation_p.P2263L|DMBT1_uc001lgm.1_Missense_Mutation_p.P1645L|DMBT1_uc021qaf.1_Missense_Mutation_p.P2273L|DMBT1_uc021qag.1_Missense_Mutation_p.P2263L|DMBT1_uc021qah.1_Missense_Mutation_p.P1645L|DMBT1_uc009xzz.1_Missense_Mutation_p.P2272L|DMBT1_uc010qtx.1_Missense_Mutation_p.P993L|DMBT1_uc009yab.1_Missense_Mutation_p.P976L|DMBT1_uc009yac.1_Missense_Mutation_p.P567L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2273	ZP.				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)				ACCAGCCGCCCTTACTACGTG	0.473000														92			22		0	0	0.00229938	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716343	153716343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:153716343G>A	uc022cig.1	-	0	937	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.H284Y|SLC10A3_uc004flq.3_Missense_Mutation_p.H313Y|SLC10A3_uc004flp.3_Missense_Mutation_p.H313Y	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	313					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCGTCTCATGGATGCTGAGC	0.597000														28			18		0	0	0.000958276	0	0
ANAPC1	64682	broad.mit.edu	37	2	112582574	112582574	+	Silent	SNP	A	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:112582574A>C	uc002thi.3	-	23	3028	c.2781T>G	c.(2779-2781)gcT>gcG	p.A927A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	927					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						CCAATCTTTCAGCTAGACTAG	0.373000														225			19		0	0	0.00278032	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234911	26234911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:26234911C>T	uc003nhd.3	-	0	306	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	84	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCTCTTGAGGCCAAGCTTGAT	0.547000														130			14		0	0	0.000422831	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22142479	22142479	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:22142479C>T	uc001bfg.1	+	2	742	c.555C>T	c.(553-555)atC>atT	p.I185I		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	185	LDL-receptor class A.					integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCAGGTGCATCCCCTCAAGCC	0.627000														81			7		0	0	0.000157383	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				164			35		1.04594e-18	3.85566e-18	0.00128727	1	0
PRR21	643905	broad.mit.edu	37	2	240981461	240981461	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:240981461G>A	uc010zod.2	-	0	939	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	313	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAAGAGGCATGGACGAAGGGC	0.607000														100			21		0	0	0.00047179	0	0
POF1B	79983	broad.mit.edu	37	X	84561251	84561251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:84561251C>T	uc004eer.2	-	11	1399	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	POF1B_uc004ees.3_Missense_Mutation_p.R418K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	418							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCTTTTAGTCTGTATTCCAT	0.338000														43			19		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	2	90008044	90008044	+	RNA	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:90008044C>T	uc010yts.2	+	14		c.2332C>T								Parts of antibodies, mostly variable regions.																		TCAGGGGGTCCCATCTCGGTT	0.473000														71			25		0	0	0.00106085	0	0
PTPRB	5787	broad.mit.edu	37	12	71029486	71029486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:71029486C>T	uc001swc.4	-	1	461	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PTPRB_uc001swa.4_Missense_Mutation_p.G139E|PTPRB_uc001swd.4_Missense_Mutation_p.G138E|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.G139E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACCAGTTTTCCCTCCTTGTT	0.413000														64			5		0	0	0.00198382	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933650	22933650	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:22933650T>C	uc001yus.3	+	6	763	c.659T>C	c.(658-660)aTc>aCc	p.I220T	CYFIP1_uc001yut.3_Missense_Mutation_p.I220T|CYFIP1_uc010aya.1_Missense_Mutation_p.I248T	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	220					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CATAACAAGATCACACAGGTA	0.522000														66			6		0	0	0.000157383	0	0
MYO18B	84700	broad.mit.edu	37	22	26423606	26423606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:26423606G>A	uc003abz.1	+	42	7916	c.7666G>A	c.(7666-7668)Gat>Aat	p.D2556N	MYO18B_uc003aca.1_Missense_Mutation_p.D2437N|MYO18B_uc010guy.1_Missense_Mutation_p.D2438N|MYO18B_uc010guz.1_Missense_Mutation_p.D2436N|MYO18B_uc011aka.1_Missense_Mutation_p.D1710N|MYO18B_uc011akb.1_Missense_Mutation_p.D2069N|MYO18B_uc010gva.1_Missense_Mutation_p.D539N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2556						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGACGACGATGTTGCGAG	0.552000														18			4		0	0	0.000602214	0	0
DPYD	1806	broad.mit.edu	37	1	98039396	98039396	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:98039396T>A	uc001drv.3	-	10	1396	c.1259A>T	c.(1258-1260)aAt>aTt	p.N420I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	420					'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)	TTCATCTTCATTCCATTTTCC	0.453000														120			16		0	0	0.000566183	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948485	82948485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:82948485C>T	uc003kim.3	-	1	330	c.259G>A	c.(259-261)Gat>Aat	p.D87N	HAPLN1_uc003kin.3_Missense_Mutation_p.D87N	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	87	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TTGAGGTAATCCGAAGTTAGC	0.433000														95			15		0	0	0.000566183	0	0
FETUB	26998	broad.mit.edu	37	3	186358421	186358421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:186358421G>A	uc010hyq.3	+	1	433	c.172G>A	c.(172-174)Gat>Aat	p.D58N	FETUB_uc011brz.2_Intron|FETUB_uc003fqn.3_Missense_Mutation_p.D58N|FETUB_uc010hyr.3_Missense_Mutation_p.D58N|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Missense_Mutation_p.D58N	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	58	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGACAGAAAGGATGGCTATGT	0.582000														164			15		0	0	0.000566183	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55354350	55354350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:55354350C>T	uc002qhm.1	+	5	714	c.668C>T	c.(667-669)cCc>cTc	p.P223L	KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	326					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGCCTTCACCCACTGAACCA	0.493000														173			25		0	0	0.00283554	0	0
TBC1D21	161514	broad.mit.edu	37	15	74173842	74173842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:74173842G>A	uc002avz.3	+	1	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TBC1D21_uc010ulc.2_Intron	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	55						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TAACATCCTGGAAAGGGTGGG	0.542000														55			12		0	0	0.00244969	0	0
FLNB	2317	broad.mit.edu	37	3	58095323	58095323	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:58095323C>T	uc003djj.2	+	14	2385	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	FLNB_uc010hne.2_Silent_p.S740S|FLNB_uc003djk.2_Silent_p.S740S|FLNB_uc010hnf.2_Silent_p.S740S|FLNB_uc003djl.2_Silent_p.S571S|FLNB_uc003djm.2_Silent_p.S571S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	740					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCAAGGTAGCCATCCTCAGA	0.468000														94			7		0	0	0.000157383	0	0
ZBBX	79740	broad.mit.edu	37	3	166960340	166960340	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:166960340G>A	uc011bpc.2	-	20	2683	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F	ZBBX_uc003feq.3_Silent_p.F714F|ZBBX_uc003fep.3_Silent_p.F743F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	743	Poly-Glu.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGGTCTTAAGGAAATCTGTGG	0.368000														71			5		0	0	0.000602214	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162325	142162325	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:142162325G>A	uc011krw.2	-	0	83	c.39C>T	c.(37-39)ctC>ctT	p.L13L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc022ani.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGCCCACAGGAGAGGAAAGG	0.582000														41			5		0	0	0.00198382	0	0
OR13C8	138802	broad.mit.edu	37	9	107331487	107331487	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:107331487C>T	uc011lvo.2	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAGAATTTTTCCTGGTAGGGC	0.413000														86			14		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179424718	179424718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179424718C>T	uc021vsy.1	-	274	78662	c.78437G>A	c.(78436-78438)gGa>gAa	p.G26146E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19841E|TTN_uc021vta.1_Missense_Mutation_p.G19774E|TTN_uc021vtb.1_Missense_Mutation_p.G19649E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27073	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E26146K(1)		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)			TGTTGTTAGTCCGCTTATTGT	0.413000														57			5		0	0	0.000602214	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84922916	84922916	+	Silent	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:84922916G>T	uc010voh.1	+	13	1613	c.1386G>T	c.(1384-1386)gtG>gtT	p.V462V	CRISPLD2_uc010vog.1_Intron	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	462	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGATGCCCGTGGATAAAAAGA	0.562000														85			12		1.41608e-15	5.2102e-15	0.00185496	1	0
NBPF16	728936	broad.mit.edu	37	1	148754896	148754896	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:148754896T>G	uc010pba.1	+	13	1743	c.1552T>G	c.(1552-1554)Tat>Gat	p.Y518D	NBPF16_uc009wkt.1_Missense_Mutation_p.Y298D	NM_001102663	NP_001096133			Homo sapiens neuroblastoma breakpoint family, member 16 (NBPF16), mRNA.											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					ACTGGATAGATATTATTCAAC	0.463000														9			4		0	0	0.00024832	0	0
PZP	5858	broad.mit.edu	37	12	9353640	9353640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:9353640C>T	uc001qvl.3	-	5	547	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	PZP_uc009zgl.3_Missense_Mutation_p.R42Q	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGCAATTCGATTTCTTCT	0.443000														86			8		0	0	0.000157383	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186965	47186965	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:47186965T>C	uc001rpi.2	-	3	288	c.-111_splice	c.e3-1		SLC38A4_uc001rpj.2_Splice_Site|SLC38A4_uc009zkl.2_Splice_Site	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GAACACTCTGTTCTGCAAACA	0.348000														23			4		0	0	0.00024832	0	0
SNRPN	6638	broad.mit.edu	37	15	25468337	25468337	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:25468337G>A	uc001yzw.1	+	3		c.885_splice	c.e3+1		SNORD115-15_uc001yzq.1_Intron|SNORD115-11_uc001yzx.1_5'Flank|SNORD115-30_uc001yzy.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-15 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACTGAGCTGTGGTGAGCACAT	0.567000									Prader-Willi syndrome					68			10		0	0	0.000442599	0	0
SWT1	54823	broad.mit.edu	37	1	185143999	185143999	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:185143999C>T	uc001grg.4	+	4	834	c.720C>T	c.(718-720)tcC>tcT	p.S240S	SWT1_uc001grh.4_Silent_p.S240S	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	240										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTATAAAATCCCGTGACACCC	0.368000														145			26		0	0	0.00106085	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059398	152059398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152059398G>A	uc001ezo.1	-	2	825	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	254							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTCCTTCCTGTTCTCCAAAC	0.443000														188			14		0	0	0.00074312	0	0
PLK2	10769	broad.mit.edu	37	5	57751416	57751416	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:57751416G>A	uc003jrn.3	-	10	1755	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	PLK2_uc021xyx.1_Silent_p.V511V	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	525	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AAAGGACACCGACGGTGTGGT	0.438000														31			7		0	0	0.000157383	0	0
IGFL2	147920	broad.mit.edu	37	19	46664099	46664099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:46664099C>T	uc002peb.3	+	3	626	c.335C>T	c.(334-336)tCc>tTc	p.S112F	IGFL2_uc010xxv.2_Missense_Mutation_p.S101F	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	101						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GGTGTGAATTCCCAGTGCCAC	0.562000														73			8		0	0	0.000157383	0	0
PTPN13	5783	broad.mit.edu	37	4	87679897	87679897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:87679897C>T	uc003hpz.3	+	21	3860	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	PTPN13_uc003hpy.3_Missense_Mutation_p.A1127V|PTPN13_uc003hqa.3_Missense_Mutation_p.A1108V|PTPN13_uc003hqb.3_Missense_Mutation_p.A936V	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1127	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTTCAGTTGCCCCTGGAGGA	0.378000														175			50		0	0	0.000781405	0	0
MEGF8	1954	broad.mit.edu	37	19	42848171	42848171	+	Silent	SNP	T	C	C			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:42848171T>C	uc002otl.4	+	9	2369	c.1734T>C	c.(1732-1734)agT>agC	p.S578S	MEGF8_uc002otm.4_Silent_p.S119S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	578	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGAATGCAGTTGGTGCCAAG	0.627000														44			5		0	0	0.00116845	0	0
AHDC1	27245	broad.mit.edu	37	1	27876232	27876232	+	Silent	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:27876232G>T	uc021ojw.1	-	0	2395	c.2395C>A	c.(2395-2397)Cgg>Agg	p.R799R	AHDC1_uc009vsy.3_Silent_p.R799R|AHDC1_uc009vsz.1_Silent_p.R799R	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	799	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCAAAGGCCCGGGCCTCGGTC	0.682000														82			19		2.94398e-08	1.073e-07	0.000958276	1	0
COL6A6	131873	broad.mit.edu	37	3	130381032	130381032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:130381032G>A	uc010htl.3	+	33	6413	c.6382G>A	c.(6382-6384)Gaa>Aaa	p.E2128K	COL6A6_uc003eni.4_Missense_Mutation_p.E227K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2128	Nonhelical region.|VWFA 9.				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						GGATGACAAGGAACTGGAGGA	0.478000														107			18		0	0	0.000566183	0	0
RYR2	6262	broad.mit.edu	37	1	237660020	237660020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237660020C>T	uc001hyl.1	+	19	2291	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	724	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATCTCTTCTCCTATGGATTT	0.493000														170			26		0	0	0.000878237	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333197	33333197	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:33333197G>A	uc002ntv.4	-	10	1218	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I367I|SLC7A9_uc021usa.1_Silent_p.I367I|SLC7A9_uc002ntw.4_Silent_p.I158I	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.	367					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)	TGTCACCAGGGATGATATAAA	0.393000														69			21		0	0	0.00278032	0	0
NRG3	10718	broad.mit.edu	37	10	84744859	84744859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:84744859C>T	uc021pvc.1	+	9	1688	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	NRG3_uc010qlz.1_Missense_Mutation_p.S529L|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.S530L|NRG3_uc001kcp.2_Missense_Mutation_p.S333L|NRG3_uc001kcq.2_Missense_Mutation_p.S180L|NRG3_uc021pvd.1_Missense_Mutation_p.S309L|NRG3_uc021pve.1_Missense_Mutation_p.S334L|NRG3_uc021pvf.1_Missense_Mutation_p.S180L|NRG3_uc021pvg.1_Missense_Mutation_p.S358L|NRG3_uc021pvh.1_Missense_Mutation_p.S142L|NRG3_uc021pvi.1_Missense_Mutation_p.S360L|NRG3_uc021pvk.1_Missense_Mutation_p.S70L|NRG3_uc001kcr.2_Missense_Mutation_p.S204L|NRG3_uc021pvl.1_Missense_Mutation_p.S180L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	554					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCAGGTATTCATCCAGTGGT	0.393000														205			21		0	0	0.00188189	0	0
KAT8	84148	broad.mit.edu	37	16	31141410	31141410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:31141410C>T	uc002eay.3	+	6	862	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	KAT8_uc002eax.3_Missense_Mutation_p.P282S|KAT8_uc002eaz.3_Missense_Mutation_p.P124S|KAT8_uc002eba.3_Missense_Mutation_p.P66S	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	282					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										TGACGTGGAGCCGTTCGTCTT	0.562000														219			49		0	0	0.000781405	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482452	152482452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:152482452G>A	uc022chs.1	-	0	559	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	MAGEA1_uc004fhf.2_Nonsense_Mutation_p.Q187*	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	187	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGATCTGATTATCACCC	0.542000														54			25		0	0	0.000720815	0	0
HHLA2	11148	broad.mit.edu	37	3	108072453	108072453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:108072453G>A	uc003dwz.3	+	3	658	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.E82K|HHLA2_uc003dwy.4_Missense_Mutation_p.E82K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	82	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGACCATTTGGAAAGCCAAGA	0.413000														54			6		0	0	0.000157383	0	0
FAM83A	84985	broad.mit.edu	37	8	124206364	124206364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:124206364G>A	uc003ypv.3	+	3	2763	c.749G>A	c.(748-750)aGa>aAa	p.R250K	FAM83A_uc003ypw.3_Missense_Mutation_p.R250K|FAM83A_uc003ypx.3_Missense_Mutation_p.R250K|FAM83A_uc003ypy.3_Missense_Mutation_p.R194K|FAM83A_uc003ypz.3_Missense_Mutation_p.R250K	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	250										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGGACTGGAGATTTGTCCTG	0.512000														85			13		0	0	0.00185496	0	0
OPCML	4978	broad.mit.edu	37	11	132290109	132290109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:132290109G>A	uc010sck.2	-	7	1093	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	OPCML_uc001qgu.3_Missense_Mutation_p.A332V|OPCML_uc001qgs.3_Missense_Mutation_p.A339V|OPCML_uc001qgt.3_Missense_Mutation_p.A338V|OPCML_uc010scl.2_Missense_Mutation_p.A298V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	339					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GAAGAAGTGGGCTAAGAGGGT	0.502000														79			15		0	0	0.000958276	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:38798333C>T	uc003ciq.3	-	8	1122	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	374					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAAAAGATCATATAGATTT	0.473000														108			10		0	0	0.000442599	0	0
CACNG2	10369	broad.mit.edu	37	22	36960604	36960604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:36960604C>T	uc003aps.2	-	3	835	c.766G>A	c.(766-768)Ggc>Agc	p.G256S		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	256					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCTTGATGCCCACGGGGGAG	0.682000														105			28		0	0	0.00178596	0	0
CMTM8	152189	broad.mit.edu	37	3	32398964	32398964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:32398964C>T	uc003cex.3	+	1	541	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	CMTM8_uc010hfu.3_Intron	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA.	83	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTACTGGGTCCTCACCGTCTT	0.517000														95			10		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179597057	179597057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179597057C>T	uc021vsy.1	-	53	13132	c.12907G>A	c.(12907-12909)Gaa>Aaa	p.E4303K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E964K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5230	Ig-like 23.		G -> D.				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)			TCTAACTTTTCAACAAATGTG	0.393000														136			28		0	0	0.000692331	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175049	102175049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:102175049C>T	uc003dvt.1	+	3	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	ZPLD1_uc003dvs.1_Missense_Mutation_p.P114S|ZPLD1_uc011bhg.1_Missense_Mutation_p.P114S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	114	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCCACAATTCCTGGAGTCAG	0.348000														64			7		0	0	0.000274275	0	0
TNKS2	80351	broad.mit.edu	37	10	93579031	93579031	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr10:93579031A>T	uc001khp.3	+	3	822	c.525A>T	c.(523-525)gaA>gaT	p.E175D		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	175					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCACAGGTGAATATAAGAAAG	0.239000														23			11		0	0	0.000978159	0	0
ZNF792	126375	broad.mit.edu	37	19	35449031	35449031	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:35449031G>A	uc002nxh.1	-	3	2115	c.1728C>T	c.(1726-1728)acC>acT	p.T576T		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCGAATGAGGGTAGGCCTTT	0.502000														27			6		0	0	0.00116845	0	0
ZNF683	257101	broad.mit.edu	37	1	26694131	26694131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:26694131G>A	uc001bmg.1	-	2	390	c.272C>T	c.(271-273)cCc>cTc	p.P91L	ZNF683_uc001bmh.1_Missense_Mutation_p.P91L|ZNF683_uc009vsj.1_Missense_Mutation_p.P91L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGTGCCCAGGGGTGCCGGCTG	0.692000														36			6		0	0	0.00198382	0	0
OR2V2	285659	broad.mit.edu	37	5	180582469	180582469	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:180582469A>G	uc011dhj.2	+	0	527	c.527A>G	c.(526-528)aAc>aGc	p.N176S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAAGGTGAACCATTTCTTC	0.473000														188			30		0	0	0.000692331	0	0
ZIM3	114026	broad.mit.edu	37	19	57646378	57646378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr19:57646378C>T	uc002qnz.1	-	4	1713	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTTTTGTCCAGTATGGGTT	0.418000														172			21		0	0	0.00229938	0	0
SETD2	29072	broad.mit.edu	37	3	47129691	47129691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:47129691G>A	uc003cqv.3	-	10	5476	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	SETD2_uc003cqs.3_Missense_Mutation_p.S1730F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTTTTTATCAGAGAGACCCTC	0.383000			"""N, F, S, Mis"""		clear cell renal carcinoma									125			15		0	0	0.000308642	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	A	A	rs140332483		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:55846490G>A	uc001sgz.1	+	0	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000														111			10		0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13824441	13824441	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:13824441A>G	uc003jfd.2	-	39	6487	c.6445_splice	c.e39-1	p.V2149_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2149	AAA 1 (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)					GTCATAATGAACCTAGAGAAT	0.378000									Kartagener syndrome					44			7		0	0	0.000157383	0	0
SYNJ2	8871	broad.mit.edu	37	6	158502225	158502225	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:158502225C>T	uc003qqx.2	+	18	2758	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	SYNJ2_uc003qqw.2_Silent_p.F884F|SYNJ2_uc003qqy.2_Silent_p.F647F|SYNJ2_uc003qqz.2_Silent_p.F501F|SYNJ2_uc003qra.2_Silent_p.F227F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	884							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTCCTCCTTCCAGGGCCCCC	0.532000														72			11		0	0	0.00136819	0	0
CLCN1	1180	broad.mit.edu	37	7	143036627	143036627	+	Missense_Mutation	SNP	G	A	A	rs121912807		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:143036627G>A	uc003wcr.1	+	13	1582	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	CLCN1_uc011ktc.1_Missense_Mutation_p.G111R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	499					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAGGCTGGTAGGAGAAATCAT	0.443000														81			6		0	0	0.00198382	0	0
GPR112	139378	broad.mit.edu	37	X	135430025	135430025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:135430025C>T	uc004ezu.1	+	5	4451	c.4160C>T	c.(4159-4161)cCa>cTa	p.P1387L	GPR112_uc010nsb.1_Missense_Mutation_p.P1182L|GPR112_uc010nsc.1_Missense_Mutation_p.P1154L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1387					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTGCCCTTCCAGCATATACT	0.453000														79			49		0	0	0.000781405	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675518	3675518	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:3675518C>T	uc002wja.3	-	10	2736	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	SIGLEC1_uc002wiz.4_Silent_p.V912V|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	912	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTCAGGACCACAGCCTGGC	0.632000														32			5		0	0	0.00116845	0	0
ETV1	2115	broad.mit.edu	37	7	13971334	13971334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:13971334G>A	uc021zzz.1	-	6	682	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ETV1_uc021zzt.1_Missense_Mutation_p.P159S|ETV1_uc021zzu.1_Missense_Mutation_p.P96S|ETV1_uc021zzv.1_Missense_Mutation_p.P141S|ETV1_uc021zzw.1_Missense_Mutation_p.P159S|ETV1_uc021zzx.1_Missense_Mutation_p.P96S|ETV1_uc021zzy.1_Missense_Mutation_p.P141S|ETV1_uc022aaa.1_Missense_Mutation_p.P181S|ETV1_uc022aab.1_Missense_Mutation_p.P199S|ETV1_uc003ssw.4_Missense_Mutation_p.P199S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P181S|ETV1_uc022aad.1_Missense_Mutation_p.P181S|ETV1_uc010ktv.3_Missense_Mutation_p.P68S	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	199					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGCAAAGGAGGAAAGGAG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									39			10		0	0	0.000978159	0	0
ST18	9705	broad.mit.edu	37	8	53062383	53062383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:53062383G>A	uc003xqz.2	-	10	2117	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V	ST18_uc011ldq.1_Missense_Mutation_p.A301V|ST18_uc011ldr.1_Missense_Mutation_p.A619V|ST18_uc011lds.1_Missense_Mutation_p.A559V|ST18_uc003xra.2_Missense_Mutation_p.A654V|ST18_uc003xrb.2_Missense_Mutation_p.A654V	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	654						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATAGAATGCTGCATTGACCAG	0.458000														85			10		0	0	0.000442599	0	0
ATR	545	broad.mit.edu	37	3	142231206	142231206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:142231206G>A	uc003eux.4	-	26	4870	c.4748C>T	c.(4747-4749)tCc>tTc	p.S1583F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1583					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCAAGCATGGAGAACACAGT	0.428000								Other conserved DNA damage response genes						104			18		0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21230873	21230873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:21230873G>A	uc002red.3	-	25	8995	c.8867C>T	c.(8866-8868)tCc>tTc	p.S2956F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2956					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S2956F(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTCCAAAGGAAGTGAGGGG	0.408000														475			107		0	0	0.000781405	0	0
COL1A1	1277	broad.mit.edu	37	17	48262930	48262930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:48262930G>A	uc002iqm.3	-	50	4454	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1443	Fibrillar collagen NC1.				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)	GTCCAAGGGGGCCACATCGAT	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							88			15		0	0	0.000422831	0	0
SPRR3	6707	broad.mit.edu	37	1	152975541	152975541	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:152975541G>A	uc021ozo.1	+	0	45	c.45G>A	c.(43-45)caG>caA	p.Q15Q	SPRR3_uc001fax.4_Silent_p.Q15Q|SPRR3_uc001faz.4_Silent_p.Q15Q|SPRR3_uc001fay.2_Silent_p.Q15Q	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	15					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCACCTCAGCTTCAACAGC	0.488000														69			10		0	0	0.000978159	0	0
CYFIP2	26999	broad.mit.edu	37	5	156736808	156736808	+	Nonsense_Mutation	SNP	A	T	T	rs3207362		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:156736808A>T	uc021ygm.1	+	9	1093	c.955A>T	c.(955-957)Aag>Tag	p.K319*	CYFIP2_uc011ddn.2_Nonsense_Mutation_p.K294*|CYFIP2_uc011ddo.2_Nonsense_Mutation_p.K124*|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.K319*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.K319*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.K198*|CYFIP2_uc011ddp.2_Nonsense_Mutation_p.K54*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	320					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGATACATTAAGACCAGTGC	0.577000														201			30		0	0	0.00209593	0	0
DDR1	780	broad.mit.edu	37	6	30857097	30857097	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:30857097C>A	uc003nrv.3	+	2	349	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_uc010jse.3_Missense_Mutation_p.Q103K|DDR1_uc003nrq.3_Missense_Mutation_p.Q103K|DDR1_uc003nrr.3_Missense_Mutation_p.Q103K|DDR1_uc003nrs.3_Missense_Mutation_p.Q103K|DDR1_uc003nrt.3_Missense_Mutation_p.Q103K|DDR1_uc011dms.2_Missense_Mutation_p.Q121K|DDR1_uc011dmt.2_Missense_Mutation_p.Q129K|DDR1_uc003nru.3_Missense_Mutation_p.Q103K|DDR1_uc011dmu.1_Missense_Mutation_p.Q103K|DDR1_uc003nry.2_Missense_Mutation_p.Q103K|DDR1_uc003nrx.2_Missense_Mutation_p.Q103K|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	103	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGTGGGCACCCAGGGACGGCA	0.672000														63			6		0.00116845	0.00419558	0.00116845	1	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														59			16		0	0	0.00074312	0	0
C20orf79	140856	broad.mit.edu	37	20	18794566	18794566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr20:18794566C>T	uc002wrk.3	+	0	197	c.107C>T	c.(106-108)cCt>cTt	p.P36L	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	36							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						ATGCCACATCCTCTAGAGCTG	0.502000														50			9		0	0	0.000673444	0	0
MAP7	9053	broad.mit.edu	37	6	136704811	136704811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:136704811C>T	uc011edg.2	-	5	950	c.701G>A	c.(700-702)aGa>aAa	p.R234K	MAP7_uc011edf.2_Missense_Mutation_p.R197K|MAP7_uc010kgu.3_Missense_Mutation_p.R234K|MAP7_uc011edh.2_Intron|MAP7_uc010kgv.3_Missense_Mutation_p.R234K|MAP7_uc010kgs.3_Missense_Mutation_p.R66K|MAP7_uc011edi.2_Missense_Mutation_p.R66K|MAP7_uc010kgq.2_Missense_Mutation_p.R118K|MAP7_uc003qgz.3_Missense_Mutation_p.R212K|MAP7_uc003qha.2_Intron|MAP7_uc010kgr.2_Missense_Mutation_p.R66K|MAP7_uc010kgt.2_Missense_Mutation_p.R234K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	212					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GACTGTACCTCTATCTGGAGA	0.373000														48			12		0	0	0.00185496	0	0
OR5T1	390155	broad.mit.edu	37	11	56043872	56043872	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:56043872G>T	uc001nio.1	+	0	758	c.758G>T	c.(757-759)tGt>tTt	p.C253F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTCTCTACATGTGGAGCTCAC	0.433000														124			30		3.1745e-13	1.16579e-12	0.001512	1	0
RNF123	63891	broad.mit.edu	37	3	49753850	49753850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:49753850C>T	uc003cxh.3	+	34	3526	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1147						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACCACTATCCCATTCTGGTG	0.642000														207			27		0	0	0.00178596	0	0
CNTFR	1271	broad.mit.edu	37	9	34556385	34556385	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:34556385G>A	uc003zup.2	-	6	930	c.636C>T	c.(634-636)gcC>gcT	p.A212A	CNTFR_uc003zuq.2_Silent_p.A212A|CNTFR_uc022bgg.1_Silent_p.A212A	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	212	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCACTGGCCGGGCTACCACAT	0.552000														57			5		0	0	0.00116845	0	0
ABCA12	26154	broad.mit.edu	37	2	215839571	215839571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:215839571G>A	uc002vew.3	-	34	5619	c.5399C>T	c.(5398-5400)aCg>aTg	p.T1800M	ABCA12_uc002vev.3_Missense_Mutation_p.T1482M|ABCA12_uc010zjn.2_Missense_Mutation_p.T727M	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1800					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T1800M(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGTGCTTCCGTGCTCGGGTG	0.378000														115			16		0	0	0.000422831	0	0
GADL1	339896	broad.mit.edu	37	3	30842485	30842485	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:30842485G>A	uc003cep.2	-	11	1193	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GADL1_uc003ceq.1_Silent_p.I382I	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	382					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCTACACTGGATAGACTTGT	0.438000														61			16		0	0	0.000422831	0	0
IL1RN	3557	broad.mit.edu	37	2	113885205	113885205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:113885205G>A	uc002tjb.3	+	0	68	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	IL1RN_uc002tix.1_Intron|IL1RN_uc002tiz.3_Intron|IL1RN_uc002tiy.3_Intron|IL1RN_uc002tja.3_Intron	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	2					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TCACAGAATGGAAATCTGCAG	0.527000									Lichen Sclerosis et Atrophicus, Familial Clustering of					25			9		0	0	0.000274275	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605268	140605268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:140605268C>T	uc003ljb.3	+	0	2191	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCGAGGGTCCCTTTCCAGG	0.647000														128			28		0	0	0.00106085	0	0
TTC26	79989	broad.mit.edu	37	7	138853127	138853127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr7:138853127G>A	uc003vus.2	+	10	1103	c.989G>A	c.(988-990)gGc>gAc	p.G330D	TTC26_uc003vur.4_Missense_Mutation_p.G330D|TTC26_uc011kqn.1_Missense_Mutation_p.G330D|TTC26_uc011kqo.1_Missense_Mutation_p.G299D|TTC26_uc011kqp.1_Missense_Mutation_p.G225D|TTC26_uc003vut.2_Missense_Mutation_p.G190D|TTC26_uc011kqq.1_Missense_Mutation_p.G199D	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	330							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCAGCCCTTGGCCAGGAAATG	0.368000														44			6		0	0	0.000157383	0	0
CT47B1	643311	broad.mit.edu	37	X	120008798	120008798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:120008798C>T	uc011muc.2	-	0	982	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	243								p.K235_E243delKLTEEATEE(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCGGTtcctctgtggcc	0.687000														59			17		0	0	0.000958276	0	0
IDO1	3620	broad.mit.edu	37	8	39775406	39775406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:39775406G>A	uc003xnm.3	+	1	214	c.100G>A	c.(100-102)Gat>Aat	p.D34N		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	34					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAATCTACCTGATTTTTATAA	0.358000														36			8		0	0	0.000157383	0	0
ULK1	8408	broad.mit.edu	37	12	132394839	132394839	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:132394839G>A	uc001uje.3	+	10	1117	c.849G>A	c.(847-849)tcG>tcA	p.S283S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	283					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)		CCAGCCCCTCGGTCAGGAAAT	0.617000														119			17		0	0	0.00188189	0	0
FGFR4	2264	broad.mit.edu	37	5	176524534	176524534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:176524534G>A	uc003mfl.3	+	17	2433	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	FGFR4_uc003mfm.3_Missense_Mutation_p.D756N|FGFR4_uc011dfu.2_Missense_Mutation_p.D688N|FGFR4_uc003mfo.3_Missense_Mutation_p.D716N	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	756					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACAGTACCTCGACCTCCGCCT	0.672000										TSP Lung(9;0.080)				58			10		0	0	0.000978159	0	0
PSD2	84249	broad.mit.edu	37	5	139216477	139216477	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr5:139216477C>T	uc003leu.1	+	9	1690	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	495					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCGAATCCTGGATGGTG	0.577000														79			11		0	0	0.00244969	0	0
DNAH9	1770	broad.mit.edu	37	17	11535910	11535910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:11535910G>A	uc002gne.3	+	7	1593	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	509	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGGACTTTGAAAATGACGT	0.393000														62			12		0	0	0.00185496	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154146	248154146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:248154146G>A	uc001idv.1	+	0	578	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						GGATACCTGGGTCTATGAGTG	0.458000														69			12		0	0	0.000978159	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:18955621G>A	uc001mpg.3	-	0	929	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	237					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAAAAATAGGAAAAACTGAA	0.488000														25			6		0	0	0.00116845	0	0
ABCB11	8647	broad.mit.edu	37	2	169780299	169780299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:169780299C>T	uc002ueo.1	-	27	3925	c.3799G>A	c.(3799-3801)Ggt>Agt	p.G1267S	ABCB11_uc010zda.1_Missense_Mutation_p.G685S|ABCB11_uc010zdb.1_Missense_Mutation_p.G743S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1267	ABC transporter 2.				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)	CAGGTCCGACCCTCTCTGGCT	0.527000														47			11		0	0	0.00185496	0	0
OR10C1	442194	broad.mit.edu	37	6	29408667	29408667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:29408667G>A	uc011dlp.2	+	0	952	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TACAGCCTGCGGAACACAGAG	0.542000														139			8		0	0	0.000673444	0	0
CFHR5	81494	broad.mit.edu	37	1	196952077	196952077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:196952077C>T	uc001gts.4	+	1	249	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	41	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGATTATAACCCTTTTTCCCA	0.338000														83			10		0	0	0.000442599	0	0
PAPOLG	64895	broad.mit.edu	37	2	61019409	61019409	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:61019409T>A	uc002sai.3	+	16	1913	c.1664T>A	c.(1663-1665)gTa>gAa	p.V555E	PAPOLG_uc002saj.3_Missense_Mutation_p.V244E|PAPOLG_uc002sak.3_Missense_Mutation_p.V90E|PAPOLG_uc010fch.3_Missense_Mutation_p.V244E	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	555					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGCCCTTCTGTAGGAGAAACA	0.388000														55			12		0	0	0.00244969	0	0
POP1	10940	broad.mit.edu	37	8	99153020	99153020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:99153020C>T	uc003yij.4	+	10	1598	c.1498C>T	c.(1498-1500)Ccg>Tcg	p.P500S	POP1_uc011lgv.2_Missense_Mutation_p.P500S|POP1_uc003yik.3_Missense_Mutation_p.P500S|TRNA_Und_uc022aza.1_5'Flank	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	500					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGCAGAAATTCCGGCAGGTAC	0.368000														71			10		0	0	0.000978159	0	0
MUCL1	118430	broad.mit.edu	37	12	55252002	55252002	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:55252002C>T	uc001sgk.3	+	3	317	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	83						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TTGGGGATCTCCCGAATGGTA	0.413000														142			21		0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179477551	179477551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179477551C>T	uc021vsy.1	-	213	42418	c.42193G>A	c.(42193-42195)Gaa>Aaa	p.E14065K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7760K|TTN_uc021vta.1_Missense_Mutation_p.E7693K|TTN_uc021vtb.1_Missense_Mutation_p.E7568K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14992	Fibronectin type-III 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E14065*(2)|p.E7693*(1)|p.E7568*(1)|p.E7760*(1)		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)			GGTTCACTTTCCCCAGCCTTA	0.502000														21			4		0	0	0.000602214	0	0
SLC44A3	126969	broad.mit.edu	37	1	95303320	95303320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:95303320C>T	uc001dqv.4	+	5	670	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLC44A3_uc001dqx.4_Missense_Mutation_p.S188F|SLC44A3_uc010otq.2_Missense_Mutation_p.S120F|SLC44A3_uc010otr.2_Missense_Mutation_p.S152F|SLC44A3_uc001dqw.4_Missense_Mutation_p.S140F|SLC44A3_uc010ots.2_Missense_Mutation_p.S108F|SLC44A3_uc009wds.3_Missense_Mutation_p.S91F|SLC44A3_uc010ott.2_Missense_Mutation_p.S108F|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	188						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAGTGCTACTCCCTATTTGCA	0.378000														107			27		0	0	0.00106085	0	0
CPA6	57094	broad.mit.edu	37	8	68396082	68396082	+	Nonsense_Mutation	SNP	C	T	T	rs139178030	byFrequency	TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr8:68396082C>T	uc003xxq.4	-	7	1015	c.759G>A	c.(757-759)tgG>tgA	p.W253*	CPA6_uc003xxr.4_Nonsense_Mutation_p.W105*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W253*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	253					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTTTTCTCCAAAATCGAT	0.398000														162			14		0	0	0.00244969	0	0
MRC2	9902	broad.mit.edu	37	17	60742070	60742070	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:60742070C>T	uc002jad.3	+	1	682	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	94	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CATGCAGTGCCTGGGCACAGG	0.617000														70			6		0	0	0.00198382	0	0
KCNA10	3744	broad.mit.edu	37	1	111061064	111061064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:111061064C>T	uc001dzt.1	-	0	734	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	116						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATCCTTTTTTCCCGGTCTCCC	0.468000														72			28		0	0	0.00178596	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450602	105450602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:105450602G>A	uc022cca.1	+	0	1177	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	MUM1L1_uc004emg.2_Missense_Mutation_p.G393R|MUM1L1_uc004emf.2_Missense_Mutation_p.G393R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	393	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTTGAAACAGGAATGATAGT	0.368000														24			7		0	0	0.00198382	0	0
RND1	27289	broad.mit.edu	37	12	49255887	49255887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:49255887C>T	uc001rsn.3	-	2	326	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	75					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CGGACATTATCGTAGTAGGGA	0.507000														71			7		0	0	0.000274275	0	0
RGPD4	285190	broad.mit.edu	37	2	108488418	108488418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:108488418G>A	uc010ywk.2	+	19	4040	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	RGPD4_uc002tdu.3_Missense_Mutation_p.E507K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1320					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGCACTGATGAAGAATCTGA	0.408000														171			47		0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857008	9857008	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:9857008A>T	uc010uym.2	-	13	4703	c.4393T>A	c.(4393-4395)Taa>Aaa	p.*1465K	GRIN2A_uc002czo.4_Nonstop_Mutation_p.*1465K|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	0					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGATTTTTAAACATCAGAT	0.378000														49			6		0	0	0.00116845	0	0
GPR114	221188	broad.mit.edu	37	16	57600608	57600608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:57600608C>T	uc002ely.3	+	6	1167	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GPR114_uc002elx.4_Missense_Mutation_p.S215F|GPR114_uc010vhr.2_Missense_Mutation_p.S215F	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	215	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAGCAGCCCTCCCACTCTCAG	0.607000														57			17		0	0	0.000958276	0	0
IL17RC	84818	broad.mit.edu	37	3	9970149	9970149	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:9970149C>T	uc003bua.3	+	10	1469	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.S321S|IL17RC_uc003btz.3_Silent_p.S346S|IL17RC_uc011atp.2_Silent_p.S202S|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.S346S|IL17RC_uc010hcu.3_Silent_p.S346S|IL17RC_uc003bub.3_Silent_p.S331S|IL17RC_uc010hcv.3_Silent_p.S331S|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.S331S|IL17RC_uc003bue.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	417						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACCGCTTTCCTGGGAGAACG	0.672000														86			9		0	0	0.000673444	0	0
SPP1	6696	broad.mit.edu	37	4	88902665	88902665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:88902665G>A	uc003hra.3	+	5	420	c.255G>A	c.(253-255)atG>atA	p.M85I	SPP1_uc011cde.2_Missense_Mutation_p.M98I|SPP1_uc003hrb.3_Missense_Mutation_p.M58I|SPP1_uc003hrc.3_Missense_Mutation_p.M71I|SPP1_uc003hrd.3_Missense_Mutation_p.M44I	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	85					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATGACCACATGGATGATATGG	0.413000														190			97		0	0	0.000781405	0	0
SYT9	143425	broad.mit.edu	37	11	7441752	7441752	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:7441752G>A	uc001mfe.3	+	5	1590	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTCACAATGAGATCATCGGCG	0.438000														53			11		0	0	0.000308642	0	0
WWC3	55841	broad.mit.edu	37	X	10085262	10085262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:10085262C>T	uc004csx.4	+	10	1361	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	WWC3_uc010nds.3_Missense_Mutation_p.S52L|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	388	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCCTGAGCTCGGTCAGCTTC	0.667000														27			19		0	0	0.00278032	0	0
MYH15	22989	broad.mit.edu	37	3	108158647	108158647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr3:108158647C>T	uc003dxa.1	-	24	3129	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1024						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.M1024T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTCCTCCTCCATGTGCAGGT	0.483000														135			12		0	0	0.000978159	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:84454471C>T	uc001vlk.3	-	0	2058	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000														139			32		0	0	0.0024448	0	0
TMEM192	201931	broad.mit.edu	37	4	166021901	166021901	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr4:166021901G>A	uc003iqz.4	-	2	417	c.318C>T	c.(316-318)ctC>ctT	p.L106L		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	Homo sapiens transmembrane protein 192 (TMEM192), mRNA.	106						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GGAGTAAATGGAGAATCCACA	0.403000														80			15		0	0	0.000422831	0	0
IGF2	3481	broad.mit.edu	37	11	2156625	2156625	+	Silent	SNP	G	A	A	rs140032633		TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:2156625G>A	uc009yde.3	-	1	232	c.129C>T	c.(127-129)ttC>ttT	p.F43F	IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Silent_p.F43F|IGF2_uc009ydf.3_Silent_p.F99F|IGF2_uc021qcb.1_Silent_p.F43F|IGF2_uc001lvh.3_Silent_p.F43F|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	43	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCCACAGACGAACTGGAGGG	0.627000														17			6		0	0	0.00116845	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840442	1840442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr17:1840442G>A	uc002ftp.3	-	1	693	c.674C>T	c.(673-675)aCc>aTc	p.T225I		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	225					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GAGGAAGAGGGTGGTCAGCCT	0.652000														18			5		0	0	0.00198382	0	0
DSCAM	1826	broad.mit.edu	37	21	41414516	41414516	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr21:41414516A>G	uc002yyq.1	-	31	5920	c.5468T>C	c.(5467-5469)aTg>aCg	p.M1823T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1823					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCTCTTCCATCTTGGCGTG	0.537000														83			10		0	0	0.000978159	0	0
RYR2	6262	broad.mit.edu	37	1	237796904	237796904	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:237796904C>T	uc001hyl.1	+	42	6702	c.6582C>T	c.(6580-6582)gcC>gcT	p.A2194A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2194	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATGGTGGCCAACTGTTGCC	0.393000														257			38		0	0	0.000781405	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873317	182873317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr1:182873317G>A	uc001gpu.3	-	7	1870	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.Q410*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.Q387*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.Q249*	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	601										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAAATACCTGGGCGCCAGTT	0.358000														61			13		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179440104	179440104	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:179440104C>T	uc021vsy.1	-	274	63276	c.63051G>A	c.(63049-63051)gtG>gtA	p.V21017V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V14712V|TTN_uc021vta.1_Silent_p.V14645V|TTN_uc021vtb.1_Silent_p.V14520V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21944	Fibronectin type-III 52.						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)			CTAACCCTTTCACGGTTGTGA	0.498000														65			7		0	0	0.00198382	0	0
FLT3	2322	broad.mit.edu	37	13	28608116	28608116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr13:28608116C>T	uc001urw.3	-	14	1932	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.G617E	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	617	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(1)|p.V615_L616ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCACCTGATCCTAGTACCTT	0.403000			"""Mis, O"""		"""AML, ALL"""									162			28		0	0	0.00106085	0	0
COL4A6	1288	broad.mit.edu	37	X	107417830	107417830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chrX:107417830C>T	uc004enw.4	-	30	3084	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q	COL4A6_uc004env.4_Missense_Mutation_p.R993Q|COL4A6_uc011msn.2_Missense_Mutation_p.R993Q|COL4A6_uc010npk.3_Missense_Mutation_p.R993Q	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	994	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P994H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGTCCAGGTCGACCAGCCTC	0.547000									Alport syndrome with Diffuse Leiomyomatosis					22			9		0	0	0.00136819	0	0
LALBA	3906	broad.mit.edu	37	12	48962902	48962902	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:48962902G>A	uc001rrt.3	-	1	281	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	85					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TTGACTGAGGGACCTGGCTGC	0.468000														107			12		0	0	0.000978159	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264378	85264378	+	Silent	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:85264378G>A	uc001szv.3	-	8	1867	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	SLC6A15_uc010sul.2_Silent_p.F351F	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	458					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCACTGACCAGAAGGGAGATG	0.443000														96			20		0	0	0.00278032	0	0
EPHA7	2045	broad.mit.edu	37	6	94066482	94066482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:94066482C>T	uc003poe.3	-	4	1518	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	EPHA7_uc003pof.3_Missense_Mutation_p.R426Q|EPHA7_uc011eac.2_Missense_Mutation_p.R426Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	426	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R426*(1)|p.R426R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTCTGGGATCGGCTTAAGTC	0.418000														66			17		0	0	0.00074312	0	0
DNAH3	55567	broad.mit.edu	37	16	20976501	20976501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:20976501G>A	uc010vbe.2	-	52	8705	c.8705C>T	c.(8704-8706)gCt>gTt	p.A2902V	DNAH3_uc010vbd.2_Missense_Mutation_p.A337V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2902	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTTTGGGAGCCACCACCTT	0.582000														112			36		0	0	0.00058488	0	0
ALK	238	broad.mit.edu	37	2	29436869	29436869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr2:29436869C>T	uc002rmy.3	-	23	4676	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	ALK_uc010ymo.2_Missense_Mutation_p.E174K	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1242	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGTGGTTTTCCTCCAAATAC	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					61			9		0	0	0.000442599	0	0
EP400	57634	broad.mit.edu	37	12	132551330	132551330	+	Silent	SNP	C	T	T			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:132551330C>T	uc001ujn.3	+	48	8717	c.8565C>T	c.(8563-8565)ccC>ccT	p.P2855P	EP400_uc021rgq.1_Silent_p.P2854P|EP400_uc001ujm.3_Silent_p.P2774P|EP400_uc001ujp.3_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2891					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGGTTCCCACTTCTCAGC	0.572000														49			5		0	0	0.00116845	0	0
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr6:71508370delA	uc003pfr.3	+	5	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													---	5	---	---	3	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr9:133759490_133759492delAAG	uc004bzw.3	+	10	1816_1818	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del	ABL1_uc004bzv.3_In_Frame_Del_p.K628del	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	609	Poly-Lys.				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)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								---	146	---	---	10	---					
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr11:68480836delT	uc001ooc.3	-	7	1200	c.1060delA	c.(1060-1062)attfs	p.I354fs		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	354					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473													---	392	---	---	7	---					
VEZT	55591	broad.mit.edu	37	12	95689830	95689830	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr12:95689830delT	uc001tdz.2	+	10	1732	c.1627delT	c.(1627-1629)ttafs	p.L543fs	VEZT_uc001tds.3_Frame_Shift_Del_p.L495fs|VEZT_uc001tdv.3_Frame_Shift_Del_p.L516fs|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	543						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTTCAGGAATTAGAAGCTTA	0.308													---	4	---	---	2	---					
TRPM1	4308	broad.mit.edu	37	15	31341630	31341631	+	Frame_Shift_Ins	INS	-	CTCCGTTT	CTCCGTTT			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr15:31341630_31341631insCTCCGTTT	uc021sia.1	-	11	1884_1885	c.1570_1571insAAACGGAG	c.(1570-1572)gtgfs	p.V524fs	TRPM1_uc010azy.3_Frame_Shift_Ins_p.V392fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Ins_p.V507fs|TRPM1_uc001zfm.3_Frame_Shift_Ins_p.V485fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	485					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.P524L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCATGTTCACTCCGTTTTCA	0.495													---	127	---	---	7	---					
TAOK2	9344	broad.mit.edu	37	16	29990310	29990310	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr16:29990310delT	uc010bzm.2	+	4	403	c.368delT	c.(367-369)cttfs	p.L123fs	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Frame_Shift_Del_p.L123fs|TAOK2_uc021tgf.1_Frame_Shift_Del_p.L123fs|TAOK2_uc002dva.2_Frame_Shift_Del_p.L123fs|TAOK2_uc002dvc.2_Frame_Shift_Del_p.L123fs|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	123	Protein kinase.				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						AAGAAACCCCTTCAGGAGGTA	0.572													---	129	---	---	32	---					
PHF5A	84844	broad.mit.edu	37	22	41863532	41863532	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29G-06A-12D-A196-08	TCGA-EE-A29G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd	690d6c02-e369-4216-9557-5cf4d697ebb0	g.chr22:41863532delG	uc003bab.3	-	2	214	c.163delC	c.(163-165)cagfs	p.Q55fs	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	55					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CAGCGCCCCTGGTAAGATCCA	0.498													---	80	---	---	8	---					
