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
NBPF1	55672	broad.mit.edu	37	1	16892156	16892156	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:16892156T>C	uc009vos.1	-	26	3924	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1012	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCCAACATGTTTTTCCTCCA	0.438												
MST1P9	11223	broad.mit.edu	37	1	17083787	17083787	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:17083787G>A	uc010ock.2	-	14	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.A270A					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCGTGAAGACGGCTGGCCAGC	0.552												
EPHA8	2046	broad.mit.edu	37	1	22924331	22924331	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:22924331G>A	uc001bfx.1	+	10	2218	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	698	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACATCATCCGCCTCGAGGGT	0.642												
ATP1A2	477	broad.mit.edu	37	1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:160106465G>A	uc001fvc.3	+	18	2801	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	890					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552												
SLC26A9	115019	broad.mit.edu	37	1	205897957	205897957	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:205897957G>A	uc001hdp.3	-	7	1065	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	317						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577												
RYR2	6262	broad.mit.edu	37	1	237659969	237659969	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:237659969C>A	uc001hyl.1	+	19	2240	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	707	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	p.G707A(1)		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)			TCTCCCTACCCTGGAGGGGGC	0.507												
ADARB2	105	broad.mit.edu	37	10	1284235	1284235	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:1284235C>T	uc009xhq.3	-	4	1646	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	440	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGTGCAGGAACGCCCGCCGGG	0.706												
C10orf71	118461	broad.mit.edu	37	10	50530623	50530623	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:50530623G>A	uc021pqb.1	+	0	33	c.33G>A	c.(31-33)gcG>gcA	p.A11A	C10orf71_uc021pqa.1_Silent_p.A10A|C10orf71_uc021pqc.1_Silent_p.A11A	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	11								p.A11A(2)		endometrium(1)	1						GCACAGACGCGTTCAGCGACT	0.542												
ANK3	288	broad.mit.edu	37	10	62149275	62149275	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:62149275A>C	uc001jky.3	-	0	360	c.22T>G	c.(22-24)Tta>Gta	p.L8V	ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|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.	8					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						TTTTTCTTTAATTGTGAGGCT	0.423												
ECHS1	1892	broad.mit.edu	37	10	135183513	135183513	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:135183513C>T	uc001lmu.3	-	2	380	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	103					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCAGGTTCTGCATTTCCTTGA	0.517												
KBTBD4	55709	broad.mit.edu	37	11	47594600	47594600	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:47594600C>G	uc001nfx.3	-	3	1610	c.1439G>C	c.(1438-1440)cGg>cCg	p.R480P	PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R505P|KBTBD4_uc001nfz.3_Missense_Mutation_p.R496P|KBTBD4_uc001nfy.3_Missense_Mutation_p.R480P	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	480										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATATCGGTCCCGGAAGACATA	0.527												
OR5AR1	219493	broad.mit.edu	37	11	56432005	56432005	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:56432005A>G	uc010rjm.2	+	0	844	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACGGTTATCATCCCCATGTT	0.423												
PRSS23	11098	broad.mit.edu	37	11	86519032	86519032	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:86519032G>A	uc021qok.1	+	0	347	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R116Q	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	116					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAACACCGAGACTCAGGG	0.517												
PVRL1	5818	broad.mit.edu	37	11	119510587	119510587	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:119510587G>A	uc001pwu.1	-	5	1311	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGCCCCATCCGTCTCCGGTGG	0.622												
KIRREL3	84623	broad.mit.edu	37	11	126343282	126343282	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:126343282G>A	uc001qea.3	-	4	874	c.513C>T	c.(511-513)caC>caT	p.H171H	KIRREL3_uc001qeb.3_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CATTGTCTGCGTGGCAGGTGA	0.642												
A2M	2	broad.mit.edu	37	12	9230302	9230302	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9230302T>C	uc001qvk.1	-	25	3384	c.3271A>G	c.(3271-3273)Ata>Gta	p.I1091V	A2M_uc009zgk.1_Missense_Mutation_p.I941V	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1091					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCACCTTTATGGCATTGTTG	0.443												
PZP	5858	broad.mit.edu	37	12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9345184G>A	uc001qvl.3	-	11	1435	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_uc009zgl.3_Missense_Mutation_p.T338M	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.T469M(2)|p.T338M(1)		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						GATAGTCTCCGTGTGGCCACA	0.512												
KLRC1	3821	broad.mit.edu	37	12	10600149	10600149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:10600149C>T	uc001qyl.3	-	5	786	c.572G>A	c.(571-573)gGt>gAt	p.G191D	KLRC1_uc009zhm.2_Missense_Mutation_p.G191D|KLRC1_uc001qym.3_Missense_Mutation_p.G173D|KLRC1_uc001qyn.3_Missense_Mutation_p.G191D|KLRC1_uc001qyo.3_Missense_Mutation_p.G173D	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	191	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GAAAGCCAAACCATTCATTGT	0.323												
LRRK2	120892	broad.mit.edu	37	12	40715936	40715936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:40715936A>G	uc001rmg.4	+	35	5391	c.5270A>G	c.(5269-5271)aAt>aGt	p.N1757S	LRRK2_uc009zjw.3_Missense_Mutation_p.N595S|LRRK2_uc001rmi.3_Missense_Mutation_p.N590S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1757					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTAGACAATCATCCAGAG	0.353												
COL2A1	1280	broad.mit.edu	37	12	48372465	48372465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:48372465G>A	uc001rqu.3	-	41	2991	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P868L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	937	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGCCAGGGGGGCCGCTGTC	0.632												
WNT1	7471	broad.mit.edu	37	12	49374347	49374348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:49374347_49374348insG	uc001rsu.3	+	2	697_698	c.499_500insG	c.(499-501)tggfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTGC	0.683												
PA2G4	5036	broad.mit.edu	37	12	56505022	56505022	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:56505022C>T	uc001sjm.3	+	10	1413	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	332	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCCCCATGCGGATAACCAG	0.438												
GRIP1	23426	broad.mit.edu	37	12	66788078	66788078	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:66788078C>T	uc001stk.3	-	15	2124	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.3_Missense_Mutation_p.G410E|GRIP1_uc001stm.3_Missense_Mutation_p.G628E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	680	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGGGGCCCCCCGTAGCGTTT	0.413												
COL4A1	1282	broad.mit.edu	37	13	110819539	110819539	+	Silent	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr13:110819539A>C	uc001vqw.4	-	43	4037	c.3915T>G	c.(3913-3915)ggT>ggG	p.G1305G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1305	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.K1304K(1)		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)			GCCCCATATCACCCTTAGAGC	0.507												
AHNAK2	113146	broad.mit.edu	37	14	105409917	105409917	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr14:105409917G>A	uc010axc.1	-	6	11991	c.11871C>T	c.(11869-11871)gcC>gcT	p.A3957A	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A3857A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3957						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCCTTGTCGGCCAGGGACA	0.622												
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:65918177_65918179delCTG	uc010ujf.2	+	1	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.2_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.2_In_Frame_Del_p.L591del	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547												
LOC645752	645752	broad.mit.edu	37	15	78207541	78207541	+	Silent	SNP	T	T	G	rs56259215	by1000genomes	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:78207541T>G	uc010bky.2	-	17	2135	c.1371A>C	c.(1369-1371)gtA>gtC	p.V457V	LOC645752_uc010umq.1_Silent_p.V104V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TGTCCTGCATTACAGGAGACA	0.567												
LRRK1	79705	broad.mit.edu	37	15	101464858	101464859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:101464858_101464859insC	uc002bwr.3	+	1	340_341	c.21_22insC	c.(19-24)agacccfs	p.R7fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	7					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCGCAAAGACCCCCCAGCAT	0.594												
AXIN1	8312	broad.mit.edu	37	16	347056	347056	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:347056C>G	uc002cgp.2	-	7	2344	c.1955_splice	c.e7+1	p.G652_splice	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Splice_Site_p.G652_splice	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	652	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGTGCTCACCCGTGGCCGGT	0.627												
ERCC4	2072	broad.mit.edu	37	16	14041971	14041971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:14041971G>A	uc002dce.2	+	10	2527	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	840	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCTTCCCGAGTCAGAGAA	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
PLCG2	5336	broad.mit.edu	37	16	81953271	81953271	+	Splice_Site	SNP	T	T	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:81953271T>A	uc002fgt.3	+	20	2413	c.2235_splice	c.e20+2	p.M745_splice	PLCG2_uc010chg.1_Splice_Site_p.M745_splice	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	745				M -> T (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACAATATGGTAGGTGGTGGA	0.493												
ANKRD11	29123	broad.mit.edu	37	16	89347130	89347130	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:89347130G>A	uc002fmx.1	-	8	6281	c.5820C>T	c.(5818-5820)agC>agT	p.S1940S	ANKRD11_uc002fmy.1_Silent_p.S1940S|ANKRD11_uc002fnc.1_Silent_p.S1940S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1897S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1940	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGACGGCGCTGAAGGGAC	0.692												
OR3A2	4995	broad.mit.edu	37	17	3181517	3181517	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr17:3181517C>T	uc002fvg.3	-	0	752	c.713G>A	c.(712-714)cGt>cAt	p.R238H		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	238					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCACTGAACGGATTCGTAG	0.527												
C19orf35	374872	broad.mit.edu	37	19	2278840	2278840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:2278840C>T	uc002lvn.2	-	2	455	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	119										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGTGGGGCGTCAGCCGGG	0.677												
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662												
TNPO2	30000	broad.mit.edu	37	19	12813636	12813636	+	Splice_Site	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:12813636C>T	uc002mup.3	-	19	3043	c.2581_splice	c.e19+1	p.A861_splice	TNPO2_uc002muq.3_Splice_Site_p.A769_splice|TNPO2_uc002muo.3_Splice_Site_p.G769_splice|TNPO2_uc002mur.3_Splice_Site_p.A769_splice	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	779					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTGCCCACCTGTGTTTTC	0.582												
KIR3DL2	3811	broad.mit.edu	37	19	55327961	55327961	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:55327961G>A	uc002qhl.4	+	0	69	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc010esf.3_Silent_p.S2S|KIR3DL2_uc021vbo.1_Silent_p.S2S|KIR3DL2_uc002qhk.4_Silent_p.S2S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	2					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)		GCACCATGTCGCTCATGGTCG	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:46608818G>A	uc002ruv.3	+	12	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	EPAS1_uc002ruw.3_Missense_Mutation_p.R176Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(4)|p.R710*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617												
GKN1	56287	broad.mit.edu	37	2	69207132	69207132	+	Missense_Mutation	SNP	G	G	A	rs145566771		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:69207132G>A	uc002sfc.3	+	4	508	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	149	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GAGCAAGTTCGGAAAAAACAT	0.507												
YSK4	80122	broad.mit.edu	37	2	135745418	135745418	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:135745418G>A	uc002tue.1	-	6	1055	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P70S|YSK4_uc002tui.4_Missense_Mutation_p.P359S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	342							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTAACTGCAGGAATATTGCCT	0.368												
RAPGEF4	11069	broad.mit.edu	37	2	173866027	173866027	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:173866027G>C	uc002uhv.4	+	16	1800	c.1613G>C	c.(1612-1614)tGt>tCt	p.C538S	RAPGEF4_uc002uhw.4_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	538	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATGCACTGTGTTTTTATG	0.398												
HCK	3055	broad.mit.edu	37	20	30674579	30674579	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:30674579C>T	uc002wxh.3	+	8	1221	c.984C>T	c.(982-984)ccC>ccT	p.P328P	HCK_uc010gdy.3_Silent_p.P308P|HCK_uc021wbv.1_Silent_p.P307P|HCK_uc002wxi.3_Silent_p.P306P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	328	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAAGGAGCCCATCTACATCA	0.587												
BPIFA1	51297	broad.mit.edu	37	20	31829275	31829275	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:31829275C>T	uc002wyt.4	+	6	736	c.666_splice	c.e6+1	p.N222_splice	BPIFA1_uc002wyu.4_Splice_Site_p.N222_splice|BPIFA1_uc002wyv.3_Splice_Site_p.N222_splice	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	222					innate immune response	extracellular region	lipid binding										TTCAGGGCAACGTAAGTAGGC	0.502												
DUSP18	150290	broad.mit.edu	37	22	31059768	31059768	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:31059768G>A	uc003aiu.3	-	1	724	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Intron|DUSP18_uc003aiw.1_Missense_Mutation_p.P75S|DUSP18_uc021wnv.1_Missense_Mutation_p.P75S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	75						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTGAGTTAGGGGAGTCAGCC	0.507												
CYP2D6	1565	broad.mit.edu	37	22	42525154	42525154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:42525154C>T	uc003bce.3	-	2	476	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	129							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCTGCTCGCGCCACGCGGG	0.687												
MOV10L1	54456	broad.mit.edu	37	22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	rs140536899		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:50581577G>A	uc003bjj.3	+	16	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_uc003bjk.4_Missense_Mutation_p.R762H|MOV10L1_uc011arp.2_Missense_Mutation_p.R742H|MOV10L1_uc011arq.1_Missense_Mutation_p.R523H	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	762					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468												
GRIP2	80852	broad.mit.edu	37	3	14555293	14555293	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:14555293G>A	uc021wtn.1	-	14	1807	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	507	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACAGGACACGGTCCCCCACC	0.647												
SCN5A	6331	broad.mit.edu	37	3	38645338	38645338	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:38645338G>A	uc021wvo.1	-	10	1807	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	SCN5A_uc021wvk.1_Silent_p.H585H|SCN5A_uc021wvl.1_Silent_p.H585H|SCN5A_uc021wvm.1_Silent_p.H585H|SCN5A_uc021wvn.1_Silent_p.H585H|SCN5A_uc021wvp.1_Silent_p.H585H|SCN5A_uc021wvq.1_Silent_p.H585H|SCN5A_uc021wvr.1_Silent_p.H585H|SCN5A_uc021wvs.1_Silent_p.H585H|SCN5A_uc021wvt.1_Silent_p.H585H|SCN5A_uc021wvu.1_Silent_p.H585H|SCN5A_uc021wvv.1_Silent_p.H585H|SCN5A_uc021wvj.1_Silent_p.H451H|SCN5A_uc021wvi.1_Silent_p.H451H|SCN5A_uc021wvw.1_Silent_p.H196H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	585					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)	CATGGAGGGCGTGGCCAGGAG	0.662												
CADPS	8618	broad.mit.edu	37	3	62423805	62423805	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:62423805C>T	uc003dll.2	-	27	4111	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K|CADPS_uc021wzv.1_Missense_Mutation_p.E1242K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1251	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGTACATCTCCTCATTGACC	0.458												
ADCY5	111	broad.mit.edu	37	3	123008753	123008753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:123008753C>T	uc003egh.2	-	18	3376	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ADCY5_uc021xdd.1_Missense_Mutation_p.G776S|ADCY5_uc003egg.2_Missense_Mutation_p.G784S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1126	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAGGTGCTGCCGATGGTCTTG	0.592												
LRPAP1	4043	broad.mit.edu	37	4	3534104	3534104	+	Silent	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:3534104C>G	uc003ghh.4	-	0	121	c.36G>C	c.(34-36)ggG>ggC	p.G12G		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	12					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCCGGGAGCCCGCGCAGAA	0.706												
OTOP1	133060	broad.mit.edu	37	4	4190625	4190625	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:4190625G>T	uc003ghp.1	-	5	1774	c.1744C>A	c.(1744-1746)Ccc>Acc	p.P582T		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	582					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTATCCAGGGTTCAAAGCCA	0.463												
ARHGAP10	79658	broad.mit.edu	37	4	148944421	148944421	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:148944421G>A	uc003ilf.3	+	18	1724	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	575					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGATTTTTCGGACGCCGCCC	0.488												
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589151	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:67589149_67589151delATT	uc003jva.3	+	9	1717_1719	c.1137_1139delATT	c.(1135-1140)aaatta>aaa	p.L380del	PIK3R1_uc003jvc.3_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L110del|PIK3R1_uc003jve.3_In_Frame_Del_p.L59del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L17del|PIK3R1_uc011crb.2_In_Frame_Del_p.L50del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	380	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L380del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAATA	0.305			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PRR16	51334	broad.mit.edu	37	5	120021674	120021674	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:120021674C>A	uc003ksq.3	+	1	348	c.185C>A	c.(184-186)aCc>aAc	p.T62N	PRR16_uc003ksp.3_Missense_Mutation_p.T39N|PRR16_uc003ksr.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	62										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACACCCTGACCTCTGACCTA	0.443												
MATR3	9782	broad.mit.edu	37	5	138658286	138658286	+	Splice_Site	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:138658286G>A	uc003ldw.3	+	13	2182	c.1779_splice	c.e13-1	p.R593_splice	MATR3_uc003ldt.3_Splice_Site_p.R255_splice|MATR3_uc003ldu.3_Splice_Site_p.R593_splice|MATR3_uc010jfb.3_Splice_Site_p.R593_splice|MATR3_uc003ldx.3_Splice_Site_p.R593_splice|MATR3_uc003ldy.3_Splice_Site_p.R270_splice|MATR3_uc003ldz.3_Splice_Site_p.R593_splice|MATR3_uc011czb.2_Splice_Site_p.R305_splice|MATR3_uc003leb.3_Splice_Site_p.R255_splice|MATR3_uc003lec.3_Splice_Site_p.R270_splice	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	593						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGATTTCAGAAAAAGATCT	0.338												
ARSI	340075	broad.mit.edu	37	5	149677472	149677472	+	Missense_Mutation	SNP	G	G	A	rs149628658	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:149677472G>A	uc003lrv.2	-	1	1604	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	339						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTTGTCCGTTGCTTTCGC	0.627												
FLT4	2324	broad.mit.edu	37	5	180041121	180041121	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:180041121G>A	uc003mlz.4	-	23	3357	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	FLT4_uc003mma.4_Missense_Mutation_p.T1093M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1093	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCACTCTGCGTGGTGTACAC	0.622												
DNAH8	1769	broad.mit.edu	37	6	38704949	38704949	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:38704949G>T	uc021yzh.1	+	5	978	c.869G>T	c.(868-870)gGt>gTt	p.G290V	DNAH8_uc003ooe.2_Missense_Mutation_p.G73V	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						AACAACTGGGGTGCTTTAAAC	0.353												
PKHD1	5314	broad.mit.edu	37	6	51900449	51900449	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:51900449C>T	uc003pah.1	-	27	3444	c.3168G>A	c.(3166-3168)tcG>tcA	p.S1056S	PKHD1_uc003pai.3_Silent_p.S1056S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1056	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S1056W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATGGCACACGAGTAAGATC	0.453												
KHDRBS2	202559	broad.mit.edu	37	6	62604661	62604661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:62604661C>T	uc003peg.2	-	5	936	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCGCTCCACGGGTTACAGT	0.627												
BCKDHB	594	broad.mit.edu	37	6	80881059	80881059	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:80881059A>G	uc003pjd.2	+	5	761	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	232					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATAGAGGATAAAAATCCTTG	0.294												
AIM1	202	broad.mit.edu	37	6	106999811	106999811	+	Silent	SNP	A	A	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:106999811A>T	uc003prh.3	+	11	5085	c.4173A>T	c.(4171-4173)ggA>ggT	p.G1391G	AIM1_uc003pri.3_Silent_p.G195G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1391	Beta/gamma crystallin 'Greek key' 8.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGACTGGGGAGGCAAAAATT	0.338												
YAE1D1	57002	broad.mit.edu	37	7	39612016	39612016	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:39612016T>C	uc003thc.4	+	2	407	c.392T>C	c.(391-393)gTa>gCa	p.V131A		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	131																	TCCCATGTTGTAGATTTATTG	0.373												
SPDYE1	285955	broad.mit.edu	37	7	44046879	44046879	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:44046879T>C	uc003tjf.3	+	4	781	c.645T>C	c.(643-645)aaT>aaC	p.N215N	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	215										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACCTGGCCAATGACATGGAGG	0.567												
EGFR	1956	broad.mit.edu	37	7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCACGT	rs121913445		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:55249017_55249018insCCACGT	uc003tqk.3	+	19	2561_2562	c.2315_2316insCCACGT	c.(2314-2316)ccc>ccCCACGTc	p.774_775insHV	EGFR_uc022adm.1_In_Frame_Ins_p.774_775insHV|EGFR_uc010kzg.2_In_Frame_Ins_p.729_730insHV|EGFR_uc022adn.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.2_In_Frame_Ins_p.721_722insHV|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.9_10insHV	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(15)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.P772_H773insX(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.C775Y(2)|p.P772_H773insYNP(2)|p.P772_H773insV(2)|p.H773L(2)|p.H773Y(2)|p.P772_H773insTHP(2)|p.P772_H773insHV(2)|p.H773>NPY(2)|p.C775R(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)|p.V774L(1)|p.P772_H773insDHP(1)|p.P772_H773insDNP(1)|p.P772_H773insQV(1)|p.N771_P772>SVDNR(1)|p.H773_V774>LM(1)|p.P772P(1)|p.P772R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGGACAACCCCCACGTGTGCC	0.644		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CLDN4	1364	broad.mit.edu	37	7	73245947	73245947	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:73245947C>T	uc003tzi.4	+	0	755	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	139					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTCCTGGACGGCCCACAAC	0.632												
SAMD9	54809	broad.mit.edu	37	7	92733004	92733004	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:92733004C>T	uc003umf.3	-	2	2677	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	SAMD9_uc003umg.3_Missense_Mutation_p.E803K|SAMD9_uc022ahg.1_Missense_Mutation_p.E803K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	803						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTATCTTGTTCTTCAAAATCA	0.353												
GIMAP4	55303	broad.mit.edu	37	7	150269429	150269429	+	Missense_Mutation	SNP	G	G	A	rs137872040		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:150269429G>A	uc003whl.3	+	2	353	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.D105N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	91							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCATTTTCGACACAGAGGT	0.507												
EPPK1	83481	broad.mit.edu	37	8	144940800	144940800	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr8:144940800G>C	uc003zaa.1	-	0	6635	c.6622C>G	c.(6622-6624)Caa>Gaa	p.Q2208E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2208						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)			ATGAGCTCTTGCGTCGTGCTC	0.622												
FAM75C1	441452	broad.mit.edu	37	9	90536103	90536103	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:90536103C>T	uc010mqi.3	+	3	1310	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	FAM75C1_uc004apq.4_Silent_p.D410D	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATCTCAGGACGTCTTTAGTG	0.493												
GFI1B	8328	broad.mit.edu	37	9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:135866288G>A	uc004ccg.3	+	6	1199	c.844G>A	c.(844-846)Gga>Aga	p.G282R	GFI1B_uc010mzy.3_Missense_Mutation_p.G236R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	282	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647												
COL5A1	1289	broad.mit.edu	37	9	137623480	137623480	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:137623480C>T	uc004cfe.3	+	7	1685	c.1303C>T	c.(1303-1305)Ccg>Tcg	p.P435S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGGGAATGCCGGCGAACCA	0.647												
IL13RA2	3598	broad.mit.edu	37	X	114249014	114249014	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chrX:114249014C>T	uc004epx.3	-	3	495	c.370G>A	c.(370-372)Gca>Aca	p.A124T	IL13RA2_uc010nqd.1_Missense_Mutation_p.A124T|IL13RA2_uc022cdb.1_Missense_Mutation_p.A124T	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	124	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAGTTTCTGCCCAGGAACTT	0.363