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
GJA5	2702	broad.mit.edu	37	1	147230966	147230966	+	Silent	SNP	C	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:147230966C>G	uc021ovl.1	-	0	381	c.381G>C	c.(379-381)gtG>gtC	p.V127V	GJA5_uc001eps.1_Silent_p.V127V|GJA5_uc001ept.1_Silent_p.V127V	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	127					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCTTCTCTGCCACCGGGTACT	0.612000														65			14		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005017	41005017	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41005017C>T	uc003jmj.4	-	35	4360	c.3870G>A	c.(3868-3870)atG>atA	p.M1290I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M845I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1290							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGGTTCCTTCATGAGCTGAA	0.488000														16			4		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3661109	3661109	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:3661109G>A	uc002fwo.4	-	8	1010	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	304	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CATGACCTTGGATGCCTTTCT	0.532000														118			23		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28622457	28622457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:28622457C>T	uc001urw.3	-	8	1242	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.R387Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	387					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	AAATGATTTTCGAGAGAAGGT	0.373000			"""Mis, O"""		"""AML, ALL"""									56			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730651	140730651	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:140730651C>T	uc003ljo.2	+	0	824	c.824C>T	c.(823-825)aCc>aTc	p.T275I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.T275I	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	278	Cadherin 3.		G -> S (in dbSNP:rs2233603).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGATCACCTATGCCTTC	0.493000														64			8		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627211	40627211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:40627211C>T	uc001cfc.4	+	0	171	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	47					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCGGGAGCCTCGGGACTGCGG	0.652000														31			12		0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2773086	2773086	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:2773086C>T	uc004cqs.1	+	5	752	c.470C>T	c.(469-471)cCg>cTg	p.P157L	GYG2_uc004cqu.1_Missense_Mutation_p.P126L|GYG2_uc004cqx.2_Missense_Mutation_p.P157L|GYG2_uc004cqt.1_Missense_Mutation_p.P126L|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.P117L|GYG2_uc010ndc.1_5'UTR	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	157					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	p.P157P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGCGGCCCCGGACCCCGGA	0.557000														38			16		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619604	52619604	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:52619604G>A	uc001jjj.3	-	2	285	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Nonsense_Mutation_p.Q33*|A1CF_uc001jji.3_Nonsense_Mutation_p.Q33*|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Nonsense_Mutation_p.Q33*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	33					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTCCTACCTGGACCAAGCTA	0.498000														21			6		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415173	46415173	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:46415173C>T	uc003cpo.4	+	2	902	c.780C>T	c.(778-780)ttC>ttT	p.F260F	CCR5_uc010hjd.3_Silent_p.F260F|CCR5_uc021wxb.1_Silent_p.F260F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	260					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGAACACCTTCCAGGAATTCT	0.473000														189			30		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208227799	208227799	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:208227799G>A	uc001hgz.3	-	13	3581	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	941	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTTCGTCATGAACTCTGGCT	0.587000														31			10		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816838	23816838	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:23816838G>A	uc001wjl.3	-	6	1284	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	SLC22A17_uc010akk.3_Silent_p.A131A|SLC22A17_uc001wjm.3_Silent_p.A349A|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	349					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CACAGGCCAGGGCTGCGGTGC	0.637000														38			8		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028072	69028072	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:69028072G>T	uc003xxv.1	+	25	3258	c.3231G>T	c.(3229-3231)aaG>aaT	p.K1077N		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1077					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						ACAATGAGAAGGGAGAAAGAA	0.388000														44			7		1.26484e-09	1.29412e-09	1	1	0
ROR1	4919	broad.mit.edu	37	1	64643703	64643703	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:64643703C>T	uc001dbj.2	+	8	2378	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	660	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CGCTGGATGCCCCCTGAAGCC	0.458000														36			5		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151921636	151921636	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:151921636C>T	uc003wla.3	-	18	3261	c.3042G>A	c.(3040-3042)ggG>ggA	p.G1014G	MLL3_uc003wkz.3_Silent_p.G75G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1014					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGTTGCCTTCCCACAGGCCT	0.473000			N		medulloblastoma									14			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987133	215987133	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:215987133C>T	uc001hku.1	-	48	10071	c.9684G>A	c.(9682-9684)caG>caA	p.Q3228Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3228					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGTGCCTCCTGTATTCGGC	0.453000										HNSCC(13;0.011)				50			21		0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25639378	25639378	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:25639378C>T	uc002gzd.1	+	8	1565	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F	WSB1_uc002gze.1_Missense_Mutation_p.L271F|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	417	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTTGGAGTTTCTCTCGTATCG	0.443000														166			25		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641421	57641421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:57641421C>T	uc002qny.3	+	3	1734	c.1378C>T	c.(1378-1380)Caa>Taa	p.Q460*	USP29_uc021vci.1_Nonsense_Mutation_p.Q460*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	460					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)		CAACCTGCACCAAGAAACAAA	0.358000														72			13		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:6690673G>A	uc010vtg.2	+	3	1375	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	FBXO39_uc010cls.1_Intron	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	419								p.Q418*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418000														26			7		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116710	161116710	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:161116710G>A	uc003lyu.2	+	5	936	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	200					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGTCCCAGAAGAATCTTC	0.338000										TCGA Ovarian(5;0.080)				27			4		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111147	7111147	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:7111147C>T	uc001mfc.2	+	0	983	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	266	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R266H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACGGAGGTCGCGACCGTGA	0.672000														51			4		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122672	24122672	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr22:24122672C>T	uc002zxx.3	+	2	487	c.465C>T	c.(463-465)atC>atT	p.I155I	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	155					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GTGCTGACATCATGATCGACT	0.637000														49			8		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232840	13232840	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:13232840T>A	uc001rbi.3	+	11	1783	c.1760T>A	c.(1759-1761)aTg>aAg	p.M587K	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	587						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGGCACTAATGGAGGGCCAG	0.537000														28			10		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770108	112770108	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:112770108G>A	uc003kqm.2	-	0	621	c.429C>T	c.(427-429)ctC>ctT	p.L143L	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	143	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CCTTGTCAAGGAGAAGGTTGT	0.542000														31			7		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739528	121739528	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:121739528G>A	uc003ksw.1	+	2	304	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.R33Q|SNCAIP_uc003ksy.1_Missense_Mutation_p.E18K|SNCAIP_uc003ksx.1_Missense_Mutation_p.R80Q|SNCAIP_uc003ksz.1_Missense_Mutation_p.E18K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E18K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E18K|SNCAIP_uc003kta.1_Missense_Mutation_p.E16K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E18K|SNCAIP_uc010jcx.1_Missense_Mutation_p.R33Q	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	33					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAACTGTGCCGAAGATGTGAT	0.453000														68			7		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45743216	45743216	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:45743216C>T	uc003tne.4	+	15	2607	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	863					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTACCAGTCCTACTCCCAGG	0.577000														47			4		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383185	22383185	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:22383185C>T	uc001yuc.1	+	6	1694	c.713C>T	c.(712-714)tCc>tTc	p.S238F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.S238F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGGCCATGTCCACGTGCACC	0.493000														52			5		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727018	73727018	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:73727018C>T	uc002jpg.3	+	8	1252	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ITGB4_uc002jph.3_Silent_p.I355I|ITGB4_uc010dgo.3_Silent_p.I355I|ITGB4_uc002jpi.4_Silent_p.I355I|ITGB4_uc010dgp.1_Silent_p.I355I|ITGB4_uc002jpj.3_Silent_p.I355I|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	355					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCAACATCGTGGAGCTGC	0.612000														83			18		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903196	22903196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:22903196G>A	uc001bfx.1	+	2	771	c.646G>A	c.(646-648)Gag>Aag	p.E216K	EPHA8_uc001bfw.3_Missense_Mutation_p.E216K	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	216	Cys-rich.					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)		TGCCTTCTCGGAGGCAGTGAC	0.632000														33			12		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39466601	39466601	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:39466601G>A	uc003xni.3	+	3	284	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	ADAM18_uc003xnh.3_Missense_Mutation_p.E77K|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E77K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	77					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACATATAATGAAACTGGATC	0.244000														16			3		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964912	40964912	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:40964912G>A	uc003jmh.3	+	13	1933	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	607	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTCTCTTATTGGAAACCCAGT	0.398000														36			8		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:17085910G>A	uc001ioo.3	-	25	3797	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1249	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTAGAACGAATAAGAGGG	0.428000														22			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794105	13794105	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:13794105C>T	uc003jfd.2	-	47	7992	c.7950G>A	c.(7948-7950)aaG>aaA	p.K2650K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2650	AAA 3 (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)					CAGTCATCTTCTTTCCCGCAG	0.358000									Kartagener syndrome					26			13		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383918	108383918	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:108383918G>A	uc001pkk.3	-	5	2427	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	EXPH5_uc010rvz.2_Silent_p.V616V|EXPH5_uc010rvy.2_Silent_p.V584V	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	772					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCTGGAAAAGACTCTGGGTG	0.373000														58			14		0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3196257	3196257	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:3196257G>A	uc002qxj.2	-	7	1110	c.917C>T	c.(916-918)tCg>tTg	p.S306L	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	306							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GGGCTCCGACGAGATGGACAC	0.572000														40			6		0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978438	11978438	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:11978438C>T	uc002mss.3	+	2	682	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZNF439_uc002msr.3_Missense_Mutation_p.P49L	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAAAGAAACCCTATGCTTGT	0.393000														53			12		0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459496	122459496	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:122459496A>G	uc003efu.2	-	7	1302	c.1163T>C	c.(1162-1164)tTt>tCt	p.F388S	HSPBAP1_uc003eft.2_Missense_Mutation_p.F99S	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	388						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ATCAGGGCCAAAGGGACTTGC	0.498000														117			15		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35888299	35888299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:35888299G>A	uc003olj.3	-	1	144	c.20C>T	c.(19-21)gCg>gTg	p.A7V	SRPK1_uc003olh.3_5'UTR|SRPK1_uc003oli.3_5'UTR|SRPK1_uc011dtg.2_5'UTR	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	7					RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGCCTGGAGCGCAAGCACTGC	0.587000														123			4		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132512040	132512040	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:132512040C>T	uc001ujn.3	+	25	5225	c.5073C>T	c.(5071-5073)gcC>gcT	p.A1691A	EP400_uc021rgq.1_Silent_p.A1690A|EP400_uc001ujm.3_Silent_p.A1610A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1727					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)		CCGGAACGGCCTCCAAACCAG	0.577000														22			6		0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31125283	31125283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:31125283G>A	uc003nsp.4	-	0	284	c.95C>T	c.(94-96)cCc>cTc	p.P32L	CCHCR1_uc011dne.2_5'Flank|CCHCR1_uc003nsq.4_Missense_Mutation_p.P32L|CCHCR1_uc003nsr.4_Intron|CCHCR1_uc010jsk.1_Intron|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AAGGCCTGAGGGAAGCCCATC	0.607000														27			5		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748431	111748431	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:111748431C>T	uc001tsa.2	+	14	1999	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	615						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGAAGCAGTTCCTGTCGGATG	0.647000														48			4		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648636	130648636	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:130648636C>T	uc001uii.3	+	0	1633	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	383					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCACCGGGGTCTGCTACGTGG	0.652000														53			11		0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36651786	36651786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:36651786C>T	uc003zzn.3	+	11	1103	c.965C>T	c.(964-966)gCc>gTc	p.A322V	MELK_uc011lpm.2_Missense_Mutation_p.A191V|MELK_uc011lpn.2_Missense_Mutation_p.A322V|MELK_uc011lpo.2_Missense_Mutation_p.A128V|MELK_uc010mll.3_Missense_Mutation_p.A290V|MELK_uc011lpp.2_Missense_Mutation_p.A274V|MELK_uc010mlm.3_Missense_Mutation_p.A251V|MELK_uc011lpr.2_Missense_Mutation_p.A251V|MELK_uc011lpq.2_Missense_Mutation_p.A128V|MELK_uc011lps.2_Missense_Mutation_p.A242V	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	322						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTGCTTCTAGCCAAGAAGGCT	0.428000														152			33		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927048	130927048	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:130927048G>A	uc001uil.2	-	7	1014	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RIMBP2_uc001uim.3_Silent_p.D174D	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	266						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGTGGAGGTCCAGGATGT	0.592000														60			15		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913440	77913440	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:77913440C>T	uc022bzi.1	-	0	478	c.478G>A	c.(478-480)Gat>Aat	p.D160N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D160N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	160	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGGGGGATCCTGGGGTTCT	0.562000														9			3		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472466	88472466	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:88472466C>T	uc002bme.2	-	16	2395	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N	NTRK3_uc002bmh.2_Missense_Mutation_p.D689N|NTRK3_uc002bmf.2_Missense_Mutation_p.D697N|NTRK3_uc021sua.1_Missense_Mutation_p.D689N|NTRK3_uc010upl.1_Missense_Mutation_p.D599N|NTRK3_uc010bnh.1_Missense_Mutation_p.D689N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	697	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGCCGAAGTCCCCAATCTTC	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				59			10		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140246656	140246656	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:140246656G>A	uc010lnk.3	-	12	2641	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.F707F|DENND2A_uc003vvw.3_Silent_p.F707F|DENND2A_uc003vvx.3_Silent_p.F707F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	707	DENN.							p.F707F(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCAGGGCTGGGAAAGGGGCTT	0.537000														19			4		0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662920	227662920	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:227662920G>A	uc021vxn.1	-	0	535	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	IRS1_uc002voh.4_Silent_p.L179L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	179	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACCAATCAGGTTCTTTGTC	0.577000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			4		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084500	58084500	+	Silent	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:58084500T>C	uc003djj.2	+	7	1375	c.1210T>C	c.(1210-1212)Ttg>Ctg	p.L404L	FLNB_uc010hne.2_Silent_p.L404L|FLNB_uc003djk.2_Silent_p.L404L|FLNB_uc010hnf.2_Silent_p.L404L|FLNB_uc003djl.2_Silent_p.L235L|FLNB_uc003djm.2_Silent_p.L235L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	404					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)		CACCGTGGAGTTGCTCGTGGA	0.532000														45			8		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10979981	10979981	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:10979981G>A	uc003bvz.3	+	13	1826	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	598					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R597W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GAAAATGCGGGGCAAGCTTGG	0.552000														52			14		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282893	59282893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:59282893G>A	uc010rkv.2	+	0	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTTTCTGTGGACCCAATGT	0.532000														72			8		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603012	111603012	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:111603012G>A	uc010hqa.3	+	1	499	c.88G>A	c.(88-90)Gat>Aat	p.D30N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D57N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D30N|PHLDB2_uc003dye.4_Missense_Mutation_p.D30N|PHLDB2_uc003dyf.4_Missense_Mutation_p.D30N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	30						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTGAGAACGATTCCCAAAA	0.418000														92			15		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027666	37027666	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:37027666C>T	uc004ddl.2	+	0	1235	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	395								p.P395H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGACCCCCAAGAATGG	0.612000														26			10		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17153524	17153524	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:17153524C>T	uc004cxv.1	+	15	1974	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	REPS2_uc004cxw.1_Silent_p.V600V|REPS2_uc011miw.1_Silent_p.V399V	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	601	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					ATCCAACAGTCCAAAAGTAAG	0.473000														33			17		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331194	55331194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:55331194G>A	uc002qhl.4	+	3	445	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.A128T|KIR3DL2_uc010esf.3_Missense_Mutation_p.A33T|KIR3DL2_uc021vbo.1_Missense_Mutation_p.A128T|KIR3DL2_uc002qhk.4_Missense_Mutation_p.A128T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	128					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)		TTCCCTCCTGGCCCACCCAGG	0.483000														39			7		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121980	73121980	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:73121980C>T	uc001jrr.4	+	5	1100	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.P202L|SLC29A3_uc001jrt.4_Missense_Mutation_p.P142L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	348					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTTTCATCCCCCTCACTACC	0.582000														134			23		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569096	73569096	+	Splice_Site	SNP	T	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:73569096T>G	uc002joh.3	+	20	2615	c.2461_splice	c.e20-1	p.V821_splice	LLGL2_uc002joi.3_Splice_Site_p.V821_splice|LLGL2_uc010dgg.2_Splice_Site_p.V821_splice|LLGL2_uc002joj.3_Splice_Site_p.V810_splice|LLGL2_uc010wsd.2_Splice_Site_p.V448_splice	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	821					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCCCCCAGGTGTTCACGCTG	0.657000														25			4		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805735	91805735	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:91805735G>A	uc010aty.3	-	7	850	c.696C>T	c.(694-696)tcC>tcT	p.S232S	CCDC88C_uc010twk.1_Silent_p.S196S	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	232					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)				AGTCGGCGCTGGAGGACTTGA	0.667000														17			4		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123395	40123395	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:40123395C>T	uc003guy.4	+	8	4002	c.3664C>T	c.(3664-3666)Ccc>Tcc	p.P1222S	N4BP2_uc010ifq.3_Missense_Mutation_p.P1142S|N4BP2_uc010ifr.3_Missense_Mutation_p.P1142S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1222						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGTATATTTCCCAGTGCTGC	0.413000														56			9		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770069	38770069	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:38770069G>A	uc003ciq.3	-	14	2604	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	868					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)	TCAAGAAAAGGATGAGGCATA	0.517000														21			9		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101812152	101812152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:101812152C>T	uc004azb.1	+	29	3085	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	960	Nonhelical region 6 (NC6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCCAATACCCGTCCGACCA	0.498000														71			10		0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37571958	37571958	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:37571958G>A	uc002rqg.3	+	0	206	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	28					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CATCCAGGGGGGTCAGTCCGA	0.672000														23			5		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970516	160970516	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:160970516G>A	uc009wtt.3	-	3	563	c.293C>T	c.(292-294)tCc>tTc	p.S98F	F11R_uc010pjv.2_Intron|F11R_uc010pjw.2_Missense_Mutation_p.S102F|F11R_uc001fxf.4_Missense_Mutation_p.S98F	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	98	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCGTGTCACGGACTTGAAGGT	0.532000														72			11		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735446	54735446	+	Silent	SNP	G	A	A	rs150957238		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:54735446G>A	uc003pck.3	+	1	518	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	134										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATCTACTTACGATAAAAGAAA	0.373000														36			9		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155269944	155269944	+	Silent	SNP	C	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:155269944C>A	uc001fkb.4	-	1	267	c.228G>T	c.(226-228)ctG>ctT	p.L76L	PKLR_uc001fka.4_Silent_p.L45L|PKLR_uc010pga.1_Silent_p.L12L	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.L76K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTCAATGTCCAGTAGGCAGA	0.602000														25			14		2.61681e-11	2.68984e-11	1	1	0
TPTE2	93492	broad.mit.edu	37	13	20000654	20000654	+	Silent	SNP	A	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:20000654A>G	uc001umd.3	-	18	1517	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Silent_p.L325L|TPTE2_uc001ume.3_Silent_p.L359L|TPTE2_uc009zzm.3_Silent_p.L107L|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Silent_p.L107L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	436	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTCATGCAATATCTATGAA	0.328000														38			3		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574481	82574481	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:82574481T>C	uc002bgv.3	+	2	344	c.275T>C	c.(274-276)cTt>cCt	p.L92P	FAM154B_uc010unr.2_Missense_Mutation_p.L77P|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	92								p.D91N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GCTTGGGACCTTCATAAAAGT	0.333000														58			7		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542579	182542579	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:182542579C>T	uc021vto.1	-	0	1009	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.D337N|NEUROD1_uc021vtn.1_Missense_Mutation_p.D337N	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	337					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAATGGCTATCGAAGGACATA	0.532000														69			13		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41529904	41529904	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:41529904G>A	uc003xok.3	-	37	5148	c.5064C>T	c.(5062-5064)acC>acT	p.T1688T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.T842T|ANK1_uc003xoi.3_Silent_p.T1688T|ANK1_uc003xoj.3_Silent_p.T1688T|ANK1_uc003xol.3_Silent_p.T1526T|ANK1_uc003xom.3_Silent_p.T1729T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1688	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGACTCACGGTGGGGGAAT	0.567000														57			13		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75858109	75858109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:75858109C>T	uc021zbv.1	-	20	4287	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	COL12A1_uc021zbw.1_Missense_Mutation_p.E254K|COL12A1_uc003phs.3_Missense_Mutation_p.E1418K|COL12A1_uc003pht.3_Missense_Mutation_p.E254K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1418	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGATAGTATTCCACCTTATAT	0.433000														18			7		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778965	84778965	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:84778965C>T	uc010voe.2	+	4	1141	c.890C>T	c.(889-891)tCg>tTg	p.S297L	USP10_uc002fii.3_Missense_Mutation_p.S293L|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	293					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTTGAATCCTCGGGTGAGGGC	0.557000														27			6		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373274	59373274	+	Silent	SNP	A	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:59373274A>T	uc002afv.3	+	7	2367	c.2088A>T	c.(2086-2088)atA>atT	p.I696I	RNF111_uc002afs.3_Silent_p.I696I|RNF111_uc002aft.3_Silent_p.I696I|RNF111_uc002afu.3_Silent_p.I695I|RNF111_uc002afw.3_Silent_p.I696I|RNF111_uc002afx.3_Silent_p.I222I	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	696	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATTCTCAAATATCTTCTCATG	0.517000														60			17		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949528	45949528	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:45949528G>A	uc001nbv.1	+	11	1773	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	GYLTL1B_uc001nbw.1_Silent_p.P523P|GYLTL1B_uc001nbx.1_Silent_p.P554P	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	554					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGTGGTGCCGGCATTCGAGA	0.642000														38			5		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480520	181480520	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:181480520C>T	uc009wxt.3	+	2	581	c.386C>T	c.(385-387)cCt>cTt	p.P129L	CACNA1E_uc001gow.3_Missense_Mutation_p.P129L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P129L|CACNA1E_uc009wxr.3_Missense_Mutation_p.P36L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	129					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						AAGACAGAACCTTATTTCATT	0.502000														143			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049206	9049206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:9049206G>A	uc002mkp.3	-	4	32629	c.32425C>T	c.(32425-32427)Cga>Tga	p.R10809*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10811	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						GTCAGAGCTCGATTAGTTGTA	0.498000														79			12		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605217	37605217	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:37605217C>T	uc002yvg.3	+	14	2545	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	DOPEY2_uc011aeb.2_Silent_p.N822N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	822					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane		p.I821M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGTGATAAACCATTCCCAGT	0.488000														66			13		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698738	169698738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:169698738C>T	uc001ggm.4	-	5	949	c.792G>A	c.(790-792)tgG>tgA	p.W264*	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	264	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGGTTGTGTTCCATGGGAAGC	0.468000														64			14		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33469070	33469070	+	Silent	SNP	A	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:33469070A>G	uc002hiy.1	-	1	118	c.90T>C	c.(88-90)ggT>ggC	p.G30G	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	30						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGAACGGGGAACCCAGCAGCT	0.687000														13			5		0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67457361	67457361	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:67457361C>T	uc002aqj.3	+	1	633	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SMAD3_uc010ujr.2_Missense_Mutation_p.A7V|SMAD3_uc010ujs.2_Missense_Mutation_p.A68V|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	112	MH1.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TGTGAGTTCGCCTTCAATATG	0.592000														81			13		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322705	5322705	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:5322705G>A	uc010qza.2	-	0	472	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGTGAAAGAATTATGGGC	0.453000														38			4		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708363	141708363	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:141708363C>T	uc003vwy.3	+	2	239	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	62	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCCCAGATCCTGGAACAACT	0.478000														24			5		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72083623	72083623	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:72083623G>A	uc001jqx.1	-	3	618	c.396C>T	c.(394-396)atC>atT	p.I132I	LRRC20_uc001jqy.1_Intron|LRRC20_uc001jqz.1_Silent_p.I82I	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	132										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						ACTCACCTACGATCTCGTTCT	0.637000														29			10		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409703	80409703	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:80409703G>A	uc003kha.2	+	14	2484	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	812					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCACGCGTGGATCTGTGTAA	0.488000														45			9		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205818	43205818	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:43205818C>T	uc002lbe.3	+	2	1137	c.321C>T	c.(319-321)atC>atT	p.I107I	SLC14A2_uc002lbb.3_Silent_p.I107I|SLC14A2_uc010dnj.3_Silent_p.I107I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	107						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTACAGGATCTGGCTGAAAG	0.592000														14			3		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37310509	37310509	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:37310509C>T	uc021utk.1	-	4	1166	c.737G>A	c.(736-738)aGa>aAa	p.R246K	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.R246K|ZNF790_uc021utl.1_Missense_Mutation_p.R246K|ZNF790_uc021utm.1_Missense_Mutation_p.R246K	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTATGAATTCTCTTATGACC	0.353000														20			6		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416587	113416587	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:113416587G>T	uc002tib.3	+	6	1503	c.964G>T	c.(964-966)Gga>Tga	p.G322*	SLC20A1_uc002tic.1_Nonsense_Mutation_p.G134*	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	322					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ATTCAAACTTGGAGATTTGGA	0.502000														45			4		0.00909568	0.00913702	1	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138714853	138714853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:138714853G>A	uc004cgr.4	-	10	1654	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P442S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P274S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	552						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTGCTGGGGAACCACGTCT	0.607000														157			24		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765443	18765443	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:18765443C>T	uc010exr.3	-	4	920	c.808G>A	c.(808-810)Gag>Aag	p.E270K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E268K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E311K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E345K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E330K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E268K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E120K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	328	Poly-Gln.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCCTCTTGCTCGTAGATTTTC	0.552000														77			25		0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5927180	5927180	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr20:5927180C>T	uc002wmh.1	-	2	251	c.129_splice	c.e2-1	p.K43_splice	TRMT6_uc010zra.1_Splice_Site|TRMT6_uc010gbn.1_Splice_Site|TRMT6_uc010gbo.1_Splice_Site	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	43					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AGTTACTTTTCTAGGGAAAAA	0.373000														15			7		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775501	38775501	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:38775501C>T	uc003gtj.3	-	3	2349	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TLR10_uc021xnk.1_Missense_Mutation_p.E557K|TLR10_uc003gti.3_Missense_Mutation_p.E571K|TLR10_uc021xnl.1_Missense_Mutation_p.E571K|TLR10_uc003gtk.3_Missense_Mutation_p.E571K|TLR10_uc021xnm.1_Missense_Mutation_p.E571K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	571	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAAGATAATTCGTGGAGATGA	0.438000														60			8		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137339517	137339517	+	Silent	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:137339517T>C	uc003vtt.3	-	4	700	c.699A>G	c.(697-699)aaA>aaG	p.K233K	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	233					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAAATGTTGGTTTACATCTGA	0.323000														22			5		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38287422	38287422	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:38287422G>A	uc022aua.1	-	2	1078	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	FGFR1_uc011lbu.2_Missense_Mutation_p.H79Y|FGFR1_uc011lbv.2_Missense_Mutation_p.H46Y|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Missense_Mutation_p.H46Y|FGFR1_uc022aub.1_Missense_Mutation_p.H46Y|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Missense_Mutation_p.H38Y|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	46	Ig-like C2-type 1.				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)	TCACCGGGGTGGACCAGGAAG	0.682000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							22			3		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041863	14041863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:14041863C>T	uc002dce.2	+	10	2419	c.2410C>T	c.(2410-2412)Ccc>Tcc	p.P804S	ERCC4_uc010uyz.1_Missense_Mutation_p.P354S	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	804	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	p.P804H(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTCTGGTGCCCCTCTCCTCA	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					32			6		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242430480	242430480	+	Missense_Mutation	SNP	C	T	T	rs143557762	byFrequency	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:242430480C>T	uc002wbi.2	+	22	2673	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	837	PH 1.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTGCAGCACTCGGCTGGAGAA	0.637000														65			15		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203186139	203186139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:203186139G>A	uc001gzn.2	-	10	1375	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.L189F|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.L418F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	427	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGGGATAGAGCCCATCAGCT	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			49		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463090	150463090	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:150463090C>T	uc001euq.3	+	3	408	c.401C>T	c.(400-402)tCc>tTc	p.S134F	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.3_Missense_Mutation_p.S134F|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Missense_Mutation_p.S134F	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	134					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTCTGGCACTCCAGCACCCAT	0.483000														47			13		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197087	38197087	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:38197087C>T	uc009vvi.3	-	6	1745	c.1659G>A	c.(1657-1659)ggG>ggA	p.G553G	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	553						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTTACCCTCCCCCAGGGTCT	0.592000														53			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638752	179638752	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:179638752C>T	uc021vsy.1	-	30	7368	c.7143G>A	c.(7141-7143)ttG>ttA	p.L2381L	TTN_uc021vsz.1_Silent_p.L2335L|TTN_uc021vta.1_Silent_p.L2335L|TTN_uc021vtb.1_Silent_p.L2335L|TTN_uc002unb.2_Silent_p.L2381L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2381	Ig-like 13.						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)			CCACACTTTCCAAGGAGACTT	0.473000														51			5		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33140809	33140809	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:33140809C>T	uc001iwm.1	+	18	1947	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	C10orf68_uc001iwl.1_Missense_Mutation_p.P526S|C10orf68_uc001iwn.4_Missense_Mutation_p.P567S|C10orf68_uc010qei.1_Missense_Mutation_p.P543S|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	567										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAGGGCTGGTCCAAGCTTTTC	0.328000														52			15		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117633178	117633178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:117633178C>T	uc001egy.3	+	14	2541	c.2521C>T	c.(2521-2523)Cag>Tag	p.Q841*		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	841					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCGTAAATTTCAGTTGCACCA	0.368000														20			7		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98545883	98545883	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:98545883C>T	uc003upp.3	+	32	4776	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	TRRAP_uc011kis.2_Silent_p.L1505L|TRRAP_uc003upr.3_Silent_p.L1222L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1523					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTTTTTCATCTGATCCCGGC	0.443000														37			11		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					40			6		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48258890	48258890	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:48258890G>A	uc001rql.3	-	3	768	c.367C>T	c.(367-369)Cga>Tga	p.R123*	VDR_uc001rqm.3_Nonsense_Mutation_p.R73*|VDR_uc001rqn.3_Nonsense_Mutation_p.R73*|VDR_uc010slq.2_Nonsense_Mutation_p.R41*	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	73	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGTGGCGTCGGTTGTCCTTG	0.627000														83			18		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802784	31802784	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:31802784C>T	uc011acw.2	+	0	191	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	64	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGCCAGAAATCCTGCTACCGC	0.612000														48			5		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120360	94120360	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:94120360G>A	uc003poe.3	-	2	932	c.691C>T	c.(691-693)Cga>Tga	p.R231*	EPHA7_uc003pof.3_Nonsense_Mutation_p.R231*|EPHA7_uc011eac.2_Nonsense_Mutation_p.R231*|EPHA7_uc003pog.4_Nonsense_Mutation_p.R231*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			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)		CATGTCCCTCGAACCTCGACT	0.458000														29			7		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77236315	77236315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:77236315C>T	uc001xst.2	+	1	1249	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S	VASH1_uc001xss.3_Missense_Mutation_p.P107S	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	107					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCCCATACCGAGTGTGCC	0.592000														81			12		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112566676	112566676	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:112566676A>T	uc002thi.3	-	28	3927	c.3680T>A	c.(3679-3681)cTt>cAt	p.L1227H		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1227					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						AATGCTAAGAAGCCGAGTAAT	0.468000														53			8		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464494	10464494	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:10464494G>A	uc003wtc.3	-	3	7343	c.7114C>T	c.(7114-7116)Cta>Tta	p.L2372L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2372					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTCTTGTAGGTCATAACCT	0.552000														58			13		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20610062	20610062	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr20:20610062C>T	uc002wrz.3	-	9	1321	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	RALGAPA2_uc002wry.3_Missense_Mutation_p.R8Q|RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	393					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAAGAGAATCCGCTGTACCAT	0.468000														22			3		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487730	248487730	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248487730G>A	uc010pzk.2	-	0	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGTAGATGAGGAGAACCATGA	0.527000														174			33		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561163	41561163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:41561163G>A	uc002yyq.1	-	11	2811	c.2359C>T	c.(2359-2361)Cct>Tct	p.P787S	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.	787	Ig-like C2-type 9.				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	p.P787H(1)		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)				ATCATCGCAGGAACTGAAAAA	0.468000														32			5		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38179446	38179446	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:38179446G>A	uc002hts.3	-	18	2463	c.2263C>T	c.(2263-2265)Cac>Tac	p.H755Y	MED24_uc010weq.2_5'Flank|MED24_uc010wer.2_Missense_Mutation_p.H65Y|MED24_uc010wes.2_Missense_Mutation_p.H590Y|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.H730Y|MED24_uc002htu.3_Missense_Mutation_p.H717Y|MED24_uc010cwn.3_Missense_Mutation_p.H717Y|MED24_uc010weu.2_Missense_Mutation_p.H640Y|MED24_uc010wev.1_Missense_Mutation_p.H680Y|MED24_uc010wew.1_Missense_Mutation_p.H671Y	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	730					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCAAAGATGTGGATGGAGCGG	0.592000														37			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428625	10428625	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:10428625C>T	uc010coi.3	-	32	4706	c.4578G>A	c.(4576-4578)ggG>ggA	p.G1526G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G1526G|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1526					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGATACGTTTCCCTCCTTCTG	0.398000														37			4		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55026970	55026970	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:55026970C>A	uc001sgi.1	-	1	144	c.106G>T	c.(106-108)Ggg>Tgg	p.G36W		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	36					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	p.G36G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TCACAGGTCCCAGCTTCCTGG	0.587000														137			15		4.7546e-09	4.84225e-09	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19284560	19284560	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:19284560C>T	uc002gvn.3	+	3	1424	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	MAPK7_uc002gvo.3_Silent_p.F207F|MAPK7_uc002gvq.3_Silent_p.F346F|MAPK7_uc002gvp.3_Silent_p.F346F	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	346	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|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 activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCACCCTTTCCTGGCCAAGT	0.617000														33			3		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49723650	49723650	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:49723650C>T	uc009zlh.3	+	11	1342	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	TROAP_uc001rtx.4_Missense_Mutation_p.A392V	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	392					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAGCAGGTTGCCGTCCGGTTG	0.567000														108			22		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160460	9160460	+	RNA	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrY:9160460G>A	uc004frl.1	-	0		c.24C>T								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		AGCTTGCCAGGATGATCTGCC	0.333000														28			9		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3769274	3769274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:3769274G>A	uc002fwv.3	-	15	1635	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	CAMKK1_uc002fwt.3_Missense_Mutation_p.S458F|CAMKK1_uc002fwu.3_Missense_Mutation_p.S458F	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	458					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTTCCCAAAGGAACGCTTCCT	0.597000														20			6		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196682875	196682875	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:196682875C>T	uc001gtj.4	+	9	1587	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	449	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAACATGTTCCAAATCAAGTA	0.249000														11			7		0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125618506	125618506	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:125618506C>T	uc001qct.3	+	4	271	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	PATE1_uc009zbr.3_Missense_Mutation_p.P75S	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	Homo sapiens prostate and testis expressed 1 (PATE1), mRNA.	87						extracellular region				large_intestine(1)|lung(5)	6						GGATGGTAATCCCTGGTTAAC	0.463000														20			5		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271564	22271564	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:22271564C>T	uc010ecx.3	+	3	1181	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H306Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGATGATTCATACTGGAGA	0.403000														23			6		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164190	150164190	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150164190G>A	uc003whj.3	+	1	734	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	135						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.R135Q(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCTTCACTCGGAAGGATGAT	0.468000														23			10		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22207041	22207041	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:22207041G>A	uc009vqd.3	-	15	2053	c.2013C>T	c.(2011-2013)gtC>gtT	p.V671V	HSPG2_uc001bfj.3_Silent_p.V670V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	670	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGACTCATGGACCCAGTGCT	0.642000														18			3		0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70736559	70736559	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:70736559G>A	uc001dex.4	-	11	1801	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L	ANKRD13C_uc009wbk.3_Missense_Mutation_p.P457L	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	492					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGAAAGCCTGGAGGAAGCTT	0.303000														14			4		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482295	87482295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:87482295G>A	uc004aoa.1	+	14	2472	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	NTRK2_uc004any.1_Missense_Mutation_p.E512K|NTRK2_uc004anz.1_Missense_Mutation_p.E528K|NTRK2_uc011lsz.2_Missense_Mutation_p.E528K|NTRK2_uc011lta.2_Missense_Mutation_p.E512K|NTRK2_uc004aoc.3_Missense_Mutation_p.E63K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	512					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCCTGTCATTGAAAATCCCCA	0.463000										TSP Lung(25;0.17)				89			8		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156461	101156461	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:101156461G>A	uc004ays.3	-	8	1834	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	458					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCTTACCTTGGAACCTGATGG	0.572000														26			7		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170502561	170502561	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:170502561C>T	uc002ufe.2	-	8	1543	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	483										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TTGTTGTTTCCGATTCAAGTT	0.413000														86			19		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36552187	36552187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:36552187C>T	uc002hqa.3	+	8	1833	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	SOCS7_uc010cvl.3_Missense_Mutation_p.S537F|SOCS7_uc002hqb.3_Intron	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	571					intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CAGCTCATTTCCAAACAGAAG	0.498000														27			5		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570874	71570874	+	Silent	SNP	A	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:71570874A>T	uc021tkt.1	+	0	294	c.294A>T	c.(292-294)atA>atT	p.I98I	CHST4_uc002fan.3_Silent_p.I98I|CHST4_uc002fao.3_Silent_p.I98I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	98					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGGATCTGATACGGGCCGTCT	0.592000														43			10		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245939	45245939	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:45245939T>C	uc001myo.3	+	7	1265	c.1016T>C	c.(1015-1017)tTc>tCc	p.F339S		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	339										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GACCTGATTTTCAAGGATGTT	0.517000														82			20		0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30302607	30302607	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:30302607C>T	uc002hgs.2	+	6	920	c.698C>T	c.(697-699)tCc>tTc	p.S233F	SUZ12_uc002hgt.2_Missense_Mutation_p.S210F	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	233					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTGCAGTTTCCAGTAATGAA	0.418000			T	JAZF1	endometrial stromal tumours									37			11		0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325291	132325291	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:132325291C>T	uc001ujc.1	+	3	695	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MMP17_uc001ujd.1_Missense_Mutation_p.P115L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	199					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.N198N(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GACGGCTACCCCTTCGACGGC	0.677000														53			17		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														62			9		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438142	58438142	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:58438142G>A	uc002qqs.1	-	3	1699	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.L384L	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GGTGTTCAATGAGGTGGGACT	0.458000														78			15		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167642176	167642176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:167642176C>T	uc010jjd.3	+	20	3950	c.3950C>T	c.(3949-3951)tCg>tTg	p.S1317L	ODZ2_uc003lzr.4_Missense_Mutation_p.S1087L|ODZ2_uc003lzt.4_Missense_Mutation_p.S690L|ODZ2_uc010jje.3_Missense_Mutation_p.S581L	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)		GCTGGGAATTCGGAAGTTGTG	0.592000														59			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90060884	90060884	+	RNA	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:90060884C>T	uc010yts.2	+	21		c.2543C>T								Parts of antibodies, mostly variable regions.																		TCTCAGGGGTCCCCTCGAGGT	0.507000														47			7		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409936	13409936	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:13409936C>T	uc002mwy.3	-	18	2747	c.2511G>A	c.(2509-2511)aaG>aaA	p.K837K	CACNA1A_uc010dzc.2_Silent_p.K363K|CACNA1A_uc010xnd.2_Silent_p.K840K|CACNA1A_uc021ups.1_Silent_p.K837K|CACNA1A_uc010xne.2_Silent_p.K840K|CACNA1A_uc010dze.2_Silent_p.K837K|CACNA1A_uc021upt.1_Silent_p.K838K	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	838					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGCCCGGCTCTTGTTGGTGT	0.692000														19			3		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30318518	30318518	+	Silent	SNP	T	A	A	rs149435090	by1000genomes	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:30318518T>A	uc002ymr.2	-	19	3730	c.3717A>T	c.(3715-3717)atA>atT	p.I1239I		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1193							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCCAGGATATTATGATTTTTA	0.308000														28			8		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922731	24922731	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:24922731C>T	uc001ywo.3	+	0	2191	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	573					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)		TGCGGTAGACCCTGAAGTAGT	0.463000														52			13		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41061770G>A	uc003jmj.4	-	5	1007	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	HEATR7B2_uc021xxt.1_Missense_Mutation_p.P173S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	173							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTGGGGTAGGGAAAATCTCTC	0.448000														42			6		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998723	120998723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:120998723G>A	uc003eec.4	+	18	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	STXBP5L_uc011bji.2_Missense_Mutation_p.G677E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	677					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTAAGCATGGGGACCATTGAC	0.398000														39			6		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71410896	71410896	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:71410896G>A	uc010dfm.3	-	17	2371	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SDK2_uc010dfn.2_Missense_Mutation_p.P470S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	791	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGACCGTGGGAACTAGAGGA	0.612000														30			8		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679659	33679659	+	Missense_Mutation	SNP	C	T	T	rs71366434		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:33679659C>T	uc002hjg.4	-	4	2669	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	SLFN11_uc010ctr.3_Missense_Mutation_p.D808N|SLFN11_uc010ctp.3_Missense_Mutation_p.D808N|SLFN11_uc010ctq.3_Missense_Mutation_p.D808N|SLFN11_uc002hjh.4_Missense_Mutation_p.D808N	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	808						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGCAACATCCTTTGGAGAA	0.468000														25			3		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243768	43243768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:43243768C>T	uc002lbe.3	+	10	2186	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	SLC14A2_uc010dnj.3_Missense_Mutation_p.P457L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	457						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGGAGCATCCACCCACAGCA	0.587000														19			4		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100712025	100712025	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:100712025C>T	uc003yiv.3	+	35	6505	c.6394C>T	c.(6394-6396)Caa>Taa	p.Q2132*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.Q2107*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2132					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTGCTTTCAAAAAATTTC	0.403000														28			3		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5735093	5735093	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:5735093G>A	uc003gil.1	+	4	817	c.633G>A	c.(631-633)ctG>ctA	p.L211L	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	211					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACGTTGACCTGTGTATCTACA	0.443000														214			36		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432246	228432246	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:228432246G>A	uc009xez.1	+	10	3499	c.3455G>A	c.(3454-3456)aGa>aAa	p.R1152K	OBSCN_uc001hsn.3_Missense_Mutation_p.R1152K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1152	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGAGAGTCTCCTTC	0.542000														43			13		0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486228	41486228	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:41486228C>T	uc009vwg.1	-	2	489	c.105G>A	c.(103-105)acG>acA	p.T35T	LOC100507178_uc021omd.1_Intron|SLFNL1_uc009vwf.1_Silent_p.T35T|SLFNL1_uc001cgn.2_Silent_p.T35T|SLFNL1_uc001cgm.2_Silent_p.T35T	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	35							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGAGTACTCCGTCAGGGACT	0.622000														48			9		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873639	20873639	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:20873639A>C	uc002dhz.3	-	1	363	c.222T>G	c.(220-222)gaT>gaG	p.D74E	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	74					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCCTCCCAGCATCTCCCGAGG	0.572000														120			11		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164371	150164371	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150164371G>A	uc003whj.3	+	1	915	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	195						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGTGAATACGAACGGAGGAC	0.423000														50			13		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497481	50497481	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:50497481G>A	uc001zxw.3	+	3	1125	c.893G>A	c.(892-894)tGg>tAg	p.W298*	SLC27A2_uc010bes.3_Nonsense_Mutation_p.W245*|SLC27A2_uc001zxx.3_Nonsense_Mutation_p.W63*	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	298					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGCCAGTTTTGGGATGACTGC	0.438000														58			6		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044741	56044741	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:56044741C>T	uc003pcs.3	-	2	507	c.275G>A	c.(274-276)gGa>gAa	p.G92E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G92E|COL21A1_uc003pcu.1_Missense_Mutation_p.G92E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	92	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATCATAGCTTCCGAGAGGAAT	0.448000														18			6		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020509	167020509	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:167020509G>A	uc003irh.2	+	19	3384	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	TLL1_uc011cjn.2_Missense_Mutation_p.G936R|TLL1_uc011cjo.2_Missense_Mutation_p.G737R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	913	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACTACCCAGGACAGGTTGA	0.448000														69			21		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98902346	98902346	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:98902346G>A	uc003htt.2	-	5	826	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	246										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TGTGTGAATCGAACAGCACTT	0.388000														52			8		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817962	183817962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:183817962G>A	uc002upc.3	-	20	2653	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*	NCKAP1_uc002upb.3_Nonsense_Mutation_p.Q757*	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	751					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTATTGACTGGAGTACGGTC	0.368000														25			7		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300222	10300222	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:10300222C>T	uc002gmm.2	-	30	4355	c.4260G>A	c.(4258-4260)acG>acA	p.T1420T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCGCTGCTTCGTCTTCTCAA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					34			12		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757907	156757907	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:156757907G>A	uc003ipe.1	-	7	1216	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	390						integral to membrane|plasma membrane											ACTTGGAAAAGAGGAATAAGA	0.343000														35			5		0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45797951	45797951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:45797951G>A	uc001cnm.3	-	9	1027	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	MUTYH_uc001cnf.3_Missense_Mutation_p.R246W|MUTYH_uc009vxo.3_Missense_Mutation_p.R246W|MUTYH_uc001cng.3_Missense_Mutation_p.R257W|MUTYH_uc001cnj.3_Missense_Mutation_p.R154W|MUTYH_uc001cni.3_Missense_Mutation_p.R246W|MUTYH_uc001cnh.3_Missense_Mutation_p.R247W|MUTYH_uc001cnl.3_Missense_Mutation_p.R260W|MUTYH_uc009vxp.3_Missense_Mutation_p.R274W|MUTYH_uc001cnn.3_Missense_Mutation_p.R261W|MUTYH_uc001cno.3_Missense_Mutation_p.R154W|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	271					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding	p.A270A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCTCCTGGCCGGGCTGGGTCC	0.612000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					26			7		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39545914	39545914	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:39545914C>T	uc003oot.2	-	9	1194	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	KIF6_uc010jxa.1_Missense_Mutation_p.E158K|KIF6_uc011dua.1_Missense_Mutation_p.E367K|KIF6_uc010jxb.1_Missense_Mutation_p.E367K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCTGGATTTCCTTTTGTAGG	0.453000														66			9		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961924	1961924	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:1961924C>T	uc002cnf.3	-	1	603	c.603G>A	c.(601-603)ctG>ctA	p.L201L	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	201										endometrium(2)|lung(2)	4						GCCAGTGGTCCAGGTGCTGGG	0.726000														42			4		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915072	176915072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:176915072C>T	uc001glc.3	-	12	2451	c.2239G>A	c.(2239-2241)Gga>Aga	p.G747R	ASTN1_uc001glb.1_Missense_Mutation_p.G747R|ASTN1_uc001gld.1_Missense_Mutation_p.G747R|ASTN1_uc009wwx.1_Missense_Mutation_p.G747R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	755					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGAATGTTCCTTTCAGCACC	0.443000														83			7		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3639990	3639990	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:3639990T>A	uc001akp.3	+	5	799	c.689T>A	c.(688-690)gTc>gAc	p.V230D	TP73_uc021ofb.1_Missense_Mutation_p.V230D|TP73_uc021ofc.1_Missense_Mutation_p.V230D|TP73_uc021ofd.1_Missense_Mutation_p.V230D|TP73_uc021ofe.1_Missense_Mutation_p.V230D|TP73_uc021off.1_Missense_Mutation_p.V230D|TP73_uc010nzj.2_Missense_Mutation_p.V181D|TP73_uc021ofg.1_Missense_Mutation_p.V181D|TP73_uc021ofh.1_Missense_Mutation_p.V181D|TP73_uc021ofi.1_Missense_Mutation_p.V181D|TP73_uc001akr.3_Missense_Mutation_p.V181D|TP73_uc009vlk.2_Missense_Mutation_p.V181D|TP73_uc001aks.3_Missense_Mutation_p.V181D|TP73_uc010nzk.2_Missense_Mutation_p.V159D	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	230	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GATGACCCTGTCACCGGCAGG	0.642000														16			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107211006	107211006	+	RNA	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:107211006C>T	uc021ser.1	-	15		c.1368G>A								Parts of antibodies, mostly variable regions.																		TTCTTTGAATCATCTCTGGAG	0.507000														78			24		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45509063	45509063	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:45509063G>A	uc001cnd.2	-	5	1665	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	479							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTCTGGATAAGGAGTCTGGAG	0.458000														35			11		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47788478	47788478	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:47788478G>A	uc002lee.2	-	1	272	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	61										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTTTCAAGCGATCCCGCTCA	0.468000														52			9		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63231041	63231041	+	Silent	SNP	C	T	T	rs150197207		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:63231041C>T	uc001nwy.2	-	5	948	c.774G>A	c.(772-774)gcG>gcA	p.A258A	HRASLS5_uc001nwz.2_Silent_p.A248A|HRASLS5_uc010rmq.1_Missense_Mutation_p.E242K|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	258			A -> V (in dbSNP:rs35375575).							endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGCAGCCTTCGCTCCTTCCA	0.512000														53			4		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371196	240371196	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:240371196G>A	uc010pye.2	+	5	3321	c.3096G>A	c.(3094-3096)gcG>gcA	p.A1032A	FMN2_uc010pyd.2_Silent_p.A1028A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1028	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741000														12			3		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95816686	95816686	+	Silent	SNP	A	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:95816686A>C	uc001vmd.4	-	15	2240	c.2121T>G	c.(2119-2121)gcT>gcG	p.A707A	ABCC4_uc010afk.3_Intron|ABCC4_uc001vme.2_Silent_p.A707A|ABCC4_uc010tih.1_Silent_p.A632A	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	707					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			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)	AGTGAGCACCAGCTCTGAAGT	0.398000														27			8		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789868	59789868	+	Silent	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:59789868T>C	uc001xdz.1	+	5	824	c.699T>C	c.(697-699)gtT>gtC	p.V233V	DAAM1_uc001xea.1_Silent_p.V233V|DAAM1_uc001xeb.1_Silent_p.V233V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	233	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTGCCTGGTTCCCGGGGGCC	0.532000														23			3		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789865	59789865	+	Silent	SNP	G	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:59789865G>T	uc001xdz.1	+	5	821	c.696G>T	c.(694-696)ctG>ctT	p.L232L	DAAM1_uc001xea.1_Silent_p.L232L|DAAM1_uc001xeb.1_Silent_p.L232L	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	232	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCGTGTGCCTGGTTCCCGGGG	0.537000														22			3		0.115264	0.115264	1	1	0
ASS1	445	broad.mit.edu	37	9	133364772	133364772	+	Silent	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:133364772C>T	uc010mza.3	+	12	1627	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ASS1_uc004bzm.3_Silent_p.I297I|ASS1_uc004bzn.3_Silent_p.I297I	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	297					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATTTAGACATCGAGGCCTTCA	0.502000														101			13		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														42			4		0	0	1	0	0
WASH1	100287171	broad.mit.edu	37	9	14865	14865	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:14865G>C	uc010mgm.1	-	10	1483	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	447					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGCGGCAAAGGAGGGATGGA	0.652000														14			3		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367179	248367179	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248367179G>A	uc010pzg.2	+	0	810	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q270K(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCAACACAGGACAAGATGG	0.488000														106			19		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525721	248525721	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248525721T>C	uc001ieh.1	+	0	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V279V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGACTGTGGTCATCCTCTTC	0.537000														110			20		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574755	22574755	+	Missense_Mutation	SNP	G	A	A	rs74170714		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:22574755G>A	uc002nqt.2	-	3	1404	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H428P(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTCTCTTA	0.373000														20			3		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142627	177142627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:177142627G>A	uc003iuq.2	-	3	623	c.509C>T	c.(508-510)tCc>tTc	p.S170F	ASB5_uc003iup.2_Missense_Mutation_p.S117F	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	170					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGCGTTGGGGATGGAAGACA	0.502000														57			8		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14851524	14851524	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrY:14851524T>A	uc004fst.1	+	11	2328	c.1383T>A	c.(1381-1383)ttT>ttA	p.F461L	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	461					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTGGGATTTTTCTCCTGGAC	0.328000														16			13		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538520	58538520	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:58538520G>A	uc002enm.3	+	6	836	c.495G>A	c.(493-495)gtG>gtA	p.V165V	NDRG4_uc002enk.3_Silent_p.V145V|NDRG4_uc010vif.2_Silent_p.V145V|NDRG4_uc002eno.3_Silent_p.V113V|NDRG4_uc010cdk.3_Silent_p.V131V|NDRG4_uc010vig.2_Silent_p.V143V|NDRG4_uc010vih.2_Silent_p.V58V|NDRG4_uc010vii.2_Silent_p.V131V|NDRG4_uc002enp.3_Silent_p.V113V|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	113					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCATCGGAGTGGGCGCCGGAG	0.592000														61			6		0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40498317	40498317	+	Silent	SNP	A	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:40498317A>G	uc004dew.3	-	2	462	c.415T>C	c.(415-417)Tta>Cta	p.L139L	CXorf38_uc010nhd.3_Non-coding_Transcript|CXorf38_uc004dev.1_Silent_p.L20L|CXorf38_uc011mko.2_Intron	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	Homo sapiens chromosome X open reading frame 38 (CXorf38), mRNA.	139										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATGAGACTTAAAAGAGCAACT	0.498000														15			4		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760756	21760756	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:21760756C>T	uc010iuc.2	-	9	2002	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CDH12_uc011cno.1_Missense_Mutation_p.R475Q|CDH12_uc003jgk.2_Missense_Mutation_p.R515Q|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	515	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAAGATCTCGGTCTGCAGC	0.408000										HNSCC(59;0.17)				67			12		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209188	193209188	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:193209188C>T	uc003ftd.3	-	6	642	c.534_splice	c.e6-1	p.R178_splice	ATP13A4_uc003fte.1_Splice_Site_p.R178_splice|ATP13A4_uc011bsr.1_Splice_Site	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	178					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATTAACCTCCTATAGAAAGA	0.358000														35			7		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948940	198948940	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:198948940G>A	uc010fsp.3	+	1	1097	c.699G>A	c.(697-699)gaG>gaA	p.E233E	PLCL1_uc002uuv.4_Silent_p.E154E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	233					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTTTATGGAGGGCAACCAGA	0.473000														42			13		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136494965	136494965	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:136494965C>T	uc003qgp.3	+	8	1045	c.742C>T	c.(742-744)Cga>Tga	p.R248*	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Nonsense_Mutation_p.R300*	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TCATCACTGGCGATCTACAAT	0.413000														25			6		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55817624	55817624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:55817624C>T	uc002qkf.3	+	18	2070	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L	BRSK1_uc002qkg.3_Missense_Mutation_p.P632L|BRSK1_uc002qkh.3_Missense_Mutation_p.P327L|Mir_324_uc021vbu.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	632					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCTCAGATCCCCAGCCTGAGT	0.617000														21			3		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187860	42187861	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:42187860_42187861CC>TT	uc002ori.1	-	2	563_564	c.561_562GG>AA	c.(559-564)ctggtc>ctAAtc	p.V188I	CEACAM7_uc010ehx.2_Missense_Mutation_p.V188I|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	188	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTGGGACTGACCAGGAGGCTCT	0.485000														75			20		0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141008818	141008818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:141008818G>A	uc003llf.2	-	6	598	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	HDAC3_uc003lle.1_Nonsense_Mutation_p.Q121*|HDAC3_uc010jgd.1_Nonsense_Mutation_p.Q103*|HDAC3_uc010jge.1_Non-coding_Transcript	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	178	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AAAGCTTCTTGAACCCCGTCA	0.512000														25			5		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150903121	150903121	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:150903121C>T	uc003eyp.3	+	10	1628	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	MED12L_uc011bnz.2_Missense_Mutation_p.A360V|MED12L_uc003eyn.3_Missense_Mutation_p.A500V|MED12L_uc003eyo.3_Missense_Mutation_p.A500V|5S_rRNA_uc021xfx.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	500					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.A500V(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATTAGGTTGCGCCCAACGAT	0.517000														42			4		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658543	129658543	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:129658543G>A	uc003vpi.3	-	9	1497	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ZC3HC1_uc010lma.3_Silent_p.F306F	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	490					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GAAATATTCGGAATACTTTCC	0.393000														67			9		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150815687	150815687	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150815687G>A	uc003wjg.1	+	6	940	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	AGAP3_uc003wje.1_Missense_Mutation_p.A85T|AGAP3_uc003wjf.1_Missense_Mutation_p.A313T|AGAP3_uc010lpy.1_Missense_Mutation_p.A313T|AGAP3_uc003wjh.1_Missense_Mutation_p.A493T|AGAP3_uc003wji.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	277	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGCCGTGTCCGCCGCCTCCAT	0.662000														121			4		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194300	57194300	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:57194300C>T	uc010kzo.3	-	3	437	c.166_splice	c.e3+1	p.G56_splice		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L55L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATCCTCACCCAGGGAGACCA	0.368000														75			6		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400118	138400118	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:138400118C>A	uc002tva.1	+	19	3770	c.3770C>A	c.(3769-3771)cCc>cAc	p.P1257H	THSD7B_uc010zbj.1_Intron	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)		CGGCCATGCCCCACAGAGCTT	0.502000														67			10		3.07112e-06	3.11338e-06	1	1	0
MPZL3	196264	broad.mit.edu	37	11	118106283	118106283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:118106283G>A	uc001psm.3	-	3	475	c.473C>T	c.(472-474)tCt>tTt	p.S158F	MPZL3_uc010rxy.2_Missense_Mutation_p.S146F|MPZL3_uc010rxz.2_Non-coding_Transcript|MPZL3_uc009yzy.3_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA.	158					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGGGCCACAGAGGAAAGCAT	0.527000														41			9		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573845	48573845	+	Silent	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:48573845G>A	uc003ctv.3	-	7	701	c.684C>T	c.(682-684)aaC>aaT	p.N228N	PFKFB4_uc003ctx.3_Silent_p.N185N|PFKFB4_uc010hkb.3_Silent_p.N228N|PFKFB4_uc003ctw.3_Silent_p.N37N|PFKFB4_uc010hkc.3_Silent_p.N228N|PFKFB4_uc011bbm.2_Silent_p.N217N|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	228	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCCACACGGTTCACCACGT	0.572000														87			17		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:20010235A>G	uc001vwc.3	-	4	975	c.923T>C	c.(922-924)gTt>gCt	p.V308A	POTEM_uc001vwb.3_Non-coding_Transcript|P712P_uc001vwd.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000														31			3		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042360	4042360	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:4042360G>A	uc002cvx.3	-	4	2533	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	665					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 plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGTCCTCCAGAAGCCTGCCT	0.612000														36			4		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347692	38347692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:38347692G>A	uc003cib.2	+	0	248	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	SLC22A14_uc010hhc.1_Missense_Mutation_p.V59M|SLC22A14_uc003cia.2_Missense_Mutation_p.V59M|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	59						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTGGATGCGGTGGGGGAGTT	0.537000														55			8		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313733	41313733	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41313733C>T	uc003jmm.1	-	2	1054	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	318					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGTTGGCTTCTCCTTCATCA	0.403000														32			6		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72082882	72082882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:72082882G>A	uc004ahh.2	-	4	1615	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	447	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGGGTCCCGGAACTGTAACA	0.557000														99			22		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	31973489	31973489	+	RNA	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:31973489C>T	uc002ect.3	+	0		c.81C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		CCTCTGGATTCACCTTCAGTA	0.577000														95			8		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303725	171303725	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:171303725C>T	uc001gho.3	+	7	1220	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	335					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCTTTTCCATTTTTTGA	0.363000														40			11		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	-	-	rs66614970	by1000genomes	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	uc001blw.3	-	15	1783_1806	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_uc001bly.3_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blx.3_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.3_In_Frame_Del_p.GPGPGPSP471del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													---	7	---	---	6	---					
TIE1	7075	broad.mit.edu	37	1	43779573	43779573	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:43779573delA	uc001ciu.3	+	13	2520	c.2343delA	c.(2341-2343)ttafs	p.L781fs	TIE1_uc010oke.2_Frame_Shift_Del_p.L736fs|TIE1_uc009vwq.3_Frame_Shift_Del_p.L737fs|TIE1_uc010okf.1_Frame_Shift_Del_p.L426fs|TIE1_uc010okg.2_Frame_Shift_Del_p.L426fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	781					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCCTTTTAACCCTGGTGT	0.642													---	63	---	---	7	---					
GPSM1	26086	broad.mit.edu	37	9	139231460	139231460	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:139231460delC	uc004chd.2	+	3	729	c.509delC	c.(508-510)gccfs	p.A170fs	GPSM1_uc004chc.3_Frame_Shift_Del_p.A170fs	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	170	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCCGCAAACGCCACGCAGGAC	0.667													---	4	---	---	2	---					
GSDMB	55876	broad.mit.edu	37	17	38061748	38061749	+	Splice_Site	DEL	CT	-	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:38061748_38061749delCT	uc010cwj.3	-	10	1159	c.1028_splice	c.e10-1	p.E343_splice	GSDMB_uc010cwi.3_Splice_Site_p.E90_splice|GSDMB_uc010cwl.3_Splice_Site|GSDMB_uc010cwm.3_Splice_Site|GSDMB_uc010cwk.3_Splice_Site|GSDMB_uc002htg.3_Splice_Site_p.E321_splice|GSDMB_uc002hth.3_Splice_Site_p.E330_splice|GSDMB_uc010wem.2_Splice_Site_p.E334_splice	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	338						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTCAGACAGCTCTGGGGGCAA	0.540													---	4	---	---	2	---